Endokrinologi Anak

PENGANTAR
PEDIATRIC ENDOCRINOLOGY

RUANG LINGKUP ENDOKRINOLOGI ANAK

Satriono, M.Sc., Dr., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

TUJUAN INTRUKSIONAL UMUM:

Mahasiswa memahami penyakit-penyakit endokrinologi anak yang sering ditemukan.

TUJUAN INSTRUKSIONAL KHUSUS

1.Menyebutkan ruang lingkup endokrinologi anak.
2.Mampu menggunakan Growth chart untuk menilai pertumbuhan anak.
3.Membuat diagnosis hipotiroidisme pada anak dan bayi. Berdasarkan riwayat penyakit,
gejala klinik, laboratorium, pemeriksaan penunjang lainnya.
4.Membuat diagnosis diferensial hipotiroidisme dengan Downs syndrome.
Berdasarkan riwayat penyakit, gejala klinik, laboratorium, pemeriksaan penunjang
lainnya.
5.Menyebutkan dasar-dasar penatalaksanaan asuhan medik gangguan pertumbuhan pada
anak.
6. Menyebutkan dasar-dasar penatalaksanaan asuhan medik hipotiroidisme pada anak.
7.Menyebutkan dasar-dasar penatalaksanaan asuhan medik struma pada anak.
8.Menyebutkan dasar-dasar penatalaksanaan asuhan medik diabetes mellitus pada anak.
9. Menyebutkan macam-macam kelainan genitalia pada anak.

Ruang Lingkup Penyakit

1.Patologi Pertumbuhan
2.Hipofise
Hipopituitarisme
Defisiensi Growth Hormone
TSH
ACTH
FSH , LH
ADH

2.Hipofise
Hiperpituitarisme
Gangguan Hipotalamus Hipofise
3.Tiroid
Hipotiroidisme
Hipertiroidisme
GONDOK pada Anak
Tiroiditis
Karsinoma tiroid Bedah

4.Suprarenalis
Hipofungsi
Penyakit Addison
Insufisiensi Suprarenalis Akut
Hiperfungsi:
Hiperplasia suprarenalis kongenital
Sindroma Cushing

5.Gonad
Pubertas terlambat & Hipogonadisme
Pubertas Prekoks
Status Intersexual (Pseudo Hermafroditisme)
Hermafroditisme
Disgenesis Gonad
Kelainan Kromosom sex Sindroma Turner
Kriptorkidisme (Undescended Testis)
Mikropenis

6.Pankreas
Diabetes Mellitus
Hipoglisemia spontan

7.Patologi Paratiroid
Metabolisme Calcium Vit D

8. Obesitas

Yang akan dibahas untuk S1 Ked

1.Hipotiroidisme
2.DD nya Downs Syndrome
3.Diabetes Mellitus pada Anak
4.Struma pada Anak.
5.Gangguan pertumbuhan , Penggunaan Growth Chart.
6.Kelainan Genitalia pada anak.
7.Hiperplasia adrenal kongenital.
8.Obesitas anak
 Endokrinologi Anak
HIPOTIROIDISME

Satriono, M.Sc., Dr., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

DEFINISI :
Defisiensi hormon tiroid.
T4 = tiroksin
T3 = triiodo tironin

KLASIFIKASI

I. HIPOTIROIDISME KONGENITAL
HIPOTIRODISME DIDAPAT (ACQUIRED)
Istilah KRETINISME? --- dipakai untuk hipotiroidisme kongenital di daerah endemik
GAKI

II. - H ENDEMIK GAKI

- H SPORADIK

III. - H BAYI ---- H KONGENITAL

- H ANAK ---- H JUVENIL

Penyebab H Kongenital
1.Disgenesis /Atireosis : aplasi, hipoplasi, Maldescent Kelenjar ektopik
2.Dyshormogenesis
3.Obat-obatan (KJ, Goitrogen)
4.Defisiensi Iodium
5.Thyroid HormonE Unresponsiveness
6.Defisisensi TSH

Penyebab H didapat (Acquired)

1.Operasi
2.Auto immune Disease- Tiroidits Limfositik Kronik (HASHIMOTO)
3.Infeksi
4.Obat-obatan
5.Defisiensi Iodium

1.H Primer - Tiroid

2.H Sekunder - Hipofisis 3.H Tersier -Hipotalamus
4.H --End Organ
HIPOTIROIDISME BAYI
Insidens 1:4000 (3750 10000)
Perempuan : Laki-laki = 3: 1
Gejala baru muncul 1-3 bulan sesudah lahir

Simtom
1.Obstipasi
2.Malas menetek (Minum susu)
3.Letargi - mau tidur saja
4.Ikterus neonatorum Prolongatus
5.Hipotermi

Signs (Gejala Klinik)

1.UUB Lebar *)
2.Rambut kering
3.Hipertelorisme
4.Makroglosi
5.Muka Sembab (a Puffy Face)
*) Fontanela post terbuka waktu lahir Hipotiroidisme Bayi
6.Leher Pendek
7.Kulit: tebal, kering, Kuning, Pucat, miksedema
8.Suara serak
9.Hipotoni
10. Distenden Abdomen
11.Hernia umbilikaslis
12.Gondok bisa ada / tidak
13. Jantung :
Kardiomegali
Bising +
GAMBAR HIPOTIROIDISME KONGENITAL

1.UUB Lebar
2.Rambut kering
3.Hipertelorisme
4.Makroglosi
5.Muka Sembab
(a Puffy Face)
HIPOTIROIDISME ANAK
Simtom
1.Pertumbuhan terlambat
- Mental - Fisik - Dentisi
2.Gemuk : Muka sembab
3.Struma
4.Bodoh
5.Cold Intolerance
6.Menometrorhagi
(pada anak perempuan
pubertas)

Signs (Gejala Klinik)

1.Bradikardi
2.Pendek
Ratio Upper:Lower Segment
>Normal
3.Overweight
4.Miksedema
5.Goiter bisa ada / tidak
6.Kulit: Pucat, Tebal, Karotinemik,
Dingin, Miksedema
7.Hipotoni Otot Lembek
8.APR , KPR Lambat
(Waktu refleks memanjang)

Pemeriksaan
DARAH:
- Hb menurun
- Alkali fosfatase menurun
- Hiperkolesterolemia

X Ray
- disgenesis epifisis (Wilkin)
- Bone Age terlambat

Pemeriksaan
Bone Age terlambat

Pemeriksaan Hormonal
Free T4 menurun
TSH sensitif meningkat
Jaman Dulu : T4 total menurun , TSH meningkat

Jaman dulu sekali :

PBI (protein Bound Iodine)
Pemeriksaan Lain
Scanning (Sidik Tiroid)
EEG Low Voltage
EKG Low Voltage
EMG (Electromyogram) memanjang
BMR menurun
Tak dilakukan pada Anak

Pemeriksaan Lain
Uji TRH
Untuk bedakan H Primer dan H Sekunder

Diagnostik H
Signs dan Symptoms H
Laboratorium: dulu Hiperkolesterolemia Hb rendah
Bone Age terlambat
Hormonal :
TSH sensitif meningkat
Free T4 menurun
DULU Diagnosis ex juvantibus

PENGOBATAN H
Dulu : obat dessicated thyroid extract
Contoh Thyranon 1 tablet 100 mg
Dosis optimal 100 mg / m2

Sekarang : Sodium Levo Thyroxin

0,1 mg L Thyroxin = 60 100 Extract Thyroid
Contoh: Thyrax (Organon)
Euthyrox (Merck)
Dosis 5-8 ug/kg BB

Diagnosis Banding
Downs Syndrome
Anak Pendek:
1.Kondrodistrofi (Akondroplasia)
2.Dwarfism Hipopituitarisme Defisiensi Growth Hormone
3.Turner Syndrome pada anak perempuan

Prognosis
Bila terapi terlambat / tanpa terapi
1.Kematian o.k.:
- Obstruksi saluran nafas
- Infeksi
2.Growth Retardation
3.Maturasi otot terlambat
4.Mental Retardation
5.Sequele Nerologik :
- inkoordinasi
- ataksi
- spastik
- strabismus , dll

Prognosis
Qu ad Vitam
Bonam
Dubia
Malam - Infaust
Qu ad sanationem
Bonam
Dubia
Jelek
Prognosis
Cepatnya Diagnosis
< 3 bulan rata-rata IQ 89
3 6 bulan rata-rata IQ 70
> 7 bulan rata-rata IQ 54
Etiologi IQ>85
Atierotik 41%
Dishormogenesis 44%
Ektopik 78%

MAKIN DINI TERAPI

Potensi intelek makin tinggi
Kelaianan nerologik makin kurang

PERLU UJI SARING (SCREENING TEST) PADA NEONATUS

dipakai TSH
 Endokrinologi Anak
DD Hipotiroidisme:

Terakhir diperbaharui pada / Page updated :10/10/2006

KULIAH 2004
DOWNS SYNDROME (MONGOLISME)
Satriono,M.Sc.,Dr.,SpA(K)
BIKA FK UNHAS, Makassar

DOWNS SYNDROME (DS)

1866 J.L.H. Down : Downs Syndrome
Insidens : 1-2 /1000 kelahiran

ETIOLOGI :
1959 Le Jeune dkk TRISOMI 21

TRISOMI 21
Trisomi Reguler 95 %
Translokasi 4-5 %
Mosaik -1%

Patogenesis division
struktur
Contoh Karyotype pasen

Gejala Klinik DS
Retardasi Mental
IQ 0-20 IDIOT
IQ 21 50 IMBECIL
Retardasi Motorik :
(Umur 3 tahun pertama)
Muka : FACIES MONGOLOID

Gejala Klinik DS
Kepala
Brakisefal
UUB Lebar, Terlambat menutup
Belakang Kepala datar

Gejala Klinik DS
MATA
Alis tipis
 Celah mata miring
Epicanthus
Katarak
Nistagmus
Strabismus
Hipertelorisme
Brusfields Spot
Gejala Klinik DS
HIDUNG
Pesek
LIDAH
Makroglosi
Lingua Skrotalis

RAHANG Hipopalsia
PALATUM Letak tinggi
GIGI Abnormal
TELINGA Abnormal
LEHER pendek

THORAKS:
Kelainan Bentuk
JANTUNG KJB - VSD
ABDOMEN
Hernia Umbilikalis
Kelainan GI : Megakolon
OTOT Hipotoni
PELVIS Kecil
Dermatoglifik
Dermatoglifik DS
TANGAN: Simian line, Sydney line
Garis fleksi distal jari V menghilang
UJUNG JARI: Lengkung Ulna
TELAPAK TANGAN:
Sudut atd > 45 (posisi t, t, t)
TELAPAK KAKI:
Halux : Busur tibia
Lengkung distal kecil
X Ray Panggul DS
Sudut ilium (i) < 60
Sudut asetabulum (a) <
16
Iliac index = ika + iki
+ aka + aki

2
Normal > 80

X Ray Panggul DS

Diagnostik DS
A.GEJALA KLINIK
B.GEJALA YG DPAT DIKUANTIFIKASI:
Anthropometrik : BB, TB, LK
Upper:lower body segment>N
UKURAN PANGGUL
DERMATOGLIFIK
C.PEMERIKSAAN KROMOSOM

Diagnostik DS
DERMATOGLIFIK
SCORE CARD :
Walker
Beckman (Uppsalla)
 Reed (Univ.Indiana):
1.Pola halux kanan
2.Sudut atd kanan
3.Pola telunjuk kanan
4.Pola telunjuk kiri

Pencegahan DS
GENETIC COUNSELLING
Tipe translokasi ok mutasi
- familial
Perlu pemeriksaan kromosom anggota keluarga
IBU Balanced translocation
Perlu diagnostik antenatal

Prognosis DS
LEBIH BAIK daripada jaman dulu
KEMATIAN ok :
Peneumonia
CHD
Kelainan kongenital
Lekemia
Infeksi
Terapi DS
Tak ada oleh karena kongenital
Terapi simptomatik
infeksi
Koreksi kelainan
STIMULASI DINI
 Endokrinologi Anak

DIABETES MELLITUS PADA ANAK

Satriono, M.Sc., Dr., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

Diabetes Mellitus in Children

Diabetes mellitus is a syndrome of disturbed energy homeostasis caused by a deficiency

of insulin or of its action and resulting in abnormal metabolism of carbohydrate, protein,
and fat. It is the most common endocrine-metabolic disorder of childhood and
adolescence with important consequences for physical and emotional development.

TABLE XXVI-1 Summary of Classification of Diabetes Mellitus in

Children andAdolescents*
Classification Criteria
1. Insulindependent Typical manifestations: glucosuria, <![endif]>
(IDDM, type I) ketonuria, random
plasma glucose (PG) >200 mg/dL
2. Noninsulin-dependent FPG >140 mg/dL and 2-hr value
(NIDDM, type II) >200 mg/dL OGTT
on more than one occasion and in
absence of
precipitating factors
3. Other types Type I or II criteria in association with
certain genetic
syndromes (including cystic fibrosis),
other
disorders, and drugs (see text)
Impaired glucose tolerance FPG <140 mg/dL with 2-hr value
(IGT) >140 mg/dL during
OGTT
Gestational diabetes (GDM) Two or more of following
abnormalities during OGTT:
FPG >105 mg/dL; 1 hr, >190 mg/dL;
2-hr, >165
mg/dL; 3 hr, >145 mg/dL.
 Statistical risk classes Normal OGTT following a previous
1. Previous abnormality of abnormal one,
glucosetolerance spontaneous hyperglycemia or
gestational diabetes
2. Potential abnormality of Genetic propensity (e.g., identical
glucose nondiabetic twin of a diabetic
tolerance sibling); islet cell antibodies
*Proposed by National Diabetes Data Group (Diabetes 28:1039,
1979) and endorsed
by various diabetes associations worldwide.
PG =plasma glucose; FPG = fasting plasma glucose; = oral glucose
tolerance test.

EPIDEMIOLOGY

Figure XXVI1. Incidence of insulin-dependent diabetes mellitus by country. (Adapted

from LaPorte R, et al: Preventing insulin dependent diabetes mellitus: The environmental
challenge. Br Med J 295:479, 1987.)

Males and females are almost equally affected;

there is no apparent correlation with socioeconomic status.
Peaks of presentation occur in two age groups: at 57 yr of age and at the time of
puberty

ETIOLOGY AND PATHOGENESIS

Figure XXVI2. Proposed scheme of natural history of B-cell defect. (Adapted from
Sperling MA [ed]: Physician's Guide to Insulin-Dependent [Type I] Diabetes Mellitus:
Diagnosis and Treatment. Copyright (1988) by the American Diabetes Association.
Reprinted with permission.)

PATHOPHYSIOLOGY

TABLE XXVI-2 Influence of Feeding (High Insulin) or of Fasting(Low Insulin) on Some

Metabolic
Processes in Liver, Muscle, and Adipose Tissue*
HighPlasma Insulin Low Plasma Insulin
(Postprandial (Fasted State)
State)
Liver: Glucose Uptake Glucose production
GlycogenSynthesis Glycogenolysis
Absence of Gluconeogenesis Gluconeogenesis
Lipogenesis Absence of lipogenesis
 Absenceofketogenesis Ketogenesis

Muscle: Glucose Uptake Absence of glucoseuptake

GlucoseOxidation Fatty acid and ketone oxidation
GlycogenSynthesis Glycogenolysis
ProteinSynthesis Proteolysis and amino Acid release

Adipose tissue: Glucose Uptake Absence of glucose uptake

Lipid Synthesis Lipolysis and fatty acid release
Triglyceride Uptake Absence of triglyceride uptake
*Insulin is considered to be the major factor governing these metabolic processes. Diabetes
mellitusmay be viewed as a permanent lowinsulin state that, untreated, results in exaggerated
fasting.

CLINICAL MANIFESTATIONS.

The classic presentation of diabetes in children is

a history of polyuria, polydipsia, polyphagia, and weight loss.
The duration of these symptoms varies but is often less than 1 mo.
A clue to the existence of polyuria may be the onset of enuresis in a previously toilet-
trained child.
An insidious onset characterized by lethargy, weakness, and weight loss is also quite
common.

The loss of weight in spite of an increased dietary intake is readily explicable by the
following illustration:
The average healthy 10-yr-old child has a daily caloric intake of 2,000 or more calories,
of which approximately 50% are derived from carbohydrate.
With the development of diabetes, daily losses of water and glucose may be as much as 5
L and 250 g, respectively.
This represents 1,000 calories lost in the urine, or 50% of average daily caloric intake.
Therefore, despite the child's compensatory increased intake of food and water, the
calories cannot be utilized, excessive caloric losses continue, and increasing catabolism
and weight loss ensue.

Pyogenic skin infections and monilial vaginitis in teenage girls are occasionally present at
the time of diagnosis of diabetes.
They are rarely the sole clinical manifestations of diabetes in children, and a careful
history will invariably reveal the coexistence of polyuria and polydipsia.

Ketaocidosis is responsible for the initial presentation of many (approximately 25%)

diabetic children.
The early manifestations may be relatively mild and consist of vomiting, polyuria, and
dehydration.
In more prolonged and severe cases, Kussmaul respirations are present, and there is an
odor of acetone on the breath.

Abdominal pain or rigidity may be present and may mimic appendicitis or pancreatitis.
Cerebral obtundation and ultimately coma ensue.

LABORATORY FINDINGS :
glucosuria,
ketonuria,
hyperglycemia,
ketonemia,
and metabolic acidosis.
Leukocytosis is common, and nonspecific serum amylase may be elevated; serum lipase
is usually not elevated.

DIAGNOSIS.

three general categories:

(1) those who have a history suggestive of diabetes, especially polyuria with polydipsia
and failure to gain weight or a loss of weight in spite of a voracious appetite;
(2) those who have a transient or persistent glucosuria; and
(3) those who have clinical manifestations of metabolic acidosis with or without stupor or
coma.

In all instances the diagnosis of diabetes mellitus is dependent on the demonstration of

hyperglycemia
in association with glucosuria
with or without ketonuria.

decreased C-peptide
increased HbA1c

When classic symptoms of polyuria and polydipsia are associated with hyperglycemia
and glucosuria,
the glucose tolerance test is not needed to support the diagnosis

TREATMENT.
INSULIN
NUTRITION SUPPORT
EXERCISE
EDUCATION AND COUNSELING
INSULIN TREATMENT.
The management of insulin-dependent diabetes mellitus may be divided into three phases
depending on
the initial presentation: that of ketoacidosis;
the postacidotic or transition period for establishment of metabolic control; and
the continuing phase of guidance of the diabetic child and his or her family.

The technique of injection of insulin should be taught to the parents and to the patient
when he or she is ready for it. Injections are given subcutaneously, rotating sites on arms,
thighs, buttocks, and abdomen in a regular sequence. An appropriate rotation helps to
ensure adequate absorption of insulin, prevent fibrosis, and minimize lipodystrophic
changes. With this rotation and the availability of the purer, single-peak insulins,
lipoatrophy and lipohypertrophy are quite unusual. Younger children may find injections
in the abdominal wall difficult or painful. Depending on their physical and psychologic
maturity, children over the range of 10{endash}12 yr should be encouraged to
administer their own insulin and to monitor their own responses to it.

COMPLICATION
The major life-threatening complication in children treated for DKA is cerebral edema.
Clinically, cerebral edema develops several hours after the institution of therapy, when
clinical and biochemical indices may suggest improvement. The manifestations are those
of raised intracranial pressure and include headache, alteration and deterioration in
alertness and conscious state, "delirious outbursts," bradycardia, vomiting, diminished
responsiveness to painful stimuli, and diminished reflexes. There may be a change in
pupillary responsiveness with unequal pupils or fixed dilated pupils. Polyuria, secondary
to development of diabetes insipidus, may be erroneously attributed to osmotic diuresis
secondary to hyperglycemia, although diabetes mellitus and diabetes insipidus coexist.
Prompt recognition of the condition as it evolves, and prompt therapy with mannitol and
hyperventilation, can be lifesaving. Increasingly, evidence points to the conclusion that
subclinical cerebral edema occurs in the majority of patients treated with fluids and
insulin for DKA, and that in only a minority does it become clinically manifest as a
medical emergency.

NEUROVASCULAR AND OTHER COMPLICATIONS: RELATION TO GLYCEMIC

CONTROL.
The increasingly prolonged survival of the diabetic child is associated with an increasing
prevalence of complications that affect the microcirculation of :
the eye (retinopathy),
the kidney (nephropathy),
the nerves (neuropathy),
the large vessels (atherosclerosis),
and the lens (cataracts).
Retinopathy is present in 45{endash}60% of insulin-dependent diabetics after 20 yr of
known disease and in 20% after 10 yr; lens opacities are present in at least 5% of those
under 19 yr of age.
Diabetic nephropathy is also common; it is present in about 40% of patients after 25 yr of
insulin-dependent diabetes whose onset occurred in childhood; this complication may
account for about 50% of deaths in long-term insulin-dependent diabetics.

Other complications described in diabetic children include dwarfism associated with a

glycogen-laden enlarged liver (Mauriac syndrome), osteopenia, and a syndrome of
limited joint mobility associated with tight, waxy skin, growth impairment, and
maturational delay. The Mauriac syndrome is clearly related to underinsulinization; it is
now rare because of the availability of the longer-acting insulins.

Another rare syndrome associated with diabetes mellitus is the Wolfram syndrome, also
known as the DIDMOAD syndrome because of its major cardinal manifestations of
diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. The disease is familial
with an autosomal recessive pattern of inheritance.

PROGNOSIS.
Type I diabetes mellitus is not a benign disease. In one study of the long-term outcome of
45 children under 12 yr of age at the time of diagnosis, three were several deaths within
1025 yr of diagnosis: there were directly attributable to diabetes, and two were due to
suicide; three patients attempted suicide unsuccessfully.
Visual, renal, neuropathic, and other complications were relatively frequent.
Furthermore, although diabetic children eventually attain a height within the normal
adult range, puberty may be delayed, and the final height may be less than the genetic
potential
 Endokrinologi Anak

STRUMA PADA ANAK.

Satriono, M.Sc., Dr., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

Struma (goiter,gondok) merupakan setiap pembesaran kelenjar tiroid. Anak dengan

pembesaran kelenjar tiroid bisa memperlihatkan fungsi tiroid yang normal (eutiroidisme),
fungsi tiroid yang kurang (hipotiroidisme), atau kelebihan produksi hormon tiroid
(hipertiroidisme).

GRADASI
Secara pemeriksaan fisik kelenjar tiroid disebut membesar bila ukurannya lebih besar
daripada ruas terakhir ibu jari penderita.
Gradasi pembesaran kelenjar tiroid pada survey GAKI di Indonesia Derajat O, 1 A, 1B , 2
dan 3.
GRADASI WHO 0 , 1 ,2

Struma bisa digolongkan ke dalam :

1.Struma kongenital dan didapat.
2.Struma endemik dan sporadik.
3.Struma intratrakeal dan Struma ekstratrakeal

PATOFISIOLOGI TERJADINYA STRUMA:

1.Seringkali Struma timbul akibat meningkatnya TSH sebagai reaksi terhadap
menurunnya hormon tiroid yang bersirkulasi.
2.Struma bisa muncul akibat proses infiltrasi berupa peradangan ataupun neoplasma.
3.Pada anak yang menderita tirotoksikosis Struma disebabkan oleh thyrotropin receptor
stimulating antibodies (TRSAb).
Gambar 1.
Seorang anak perempuan dengan
struma endemik di Sulawesi
Selatan yang memperlihatkan
gejala hipotiroidisme

PENGOBATAN STRUMA DI DAERAH ENDEMIK

Pemberian iodium dalam minyak secara intra muskuler pada ibu akan mencegah
defisiensi Iodium kehamilannya yang akan dating selama 5 tahun.

Terapi semacam ini pada anak berumur kurang 4 tahun yang menderita kretinisme
dengan myxedema akan membuat euthyroidisme dalam waktu 5 bulan.

Tetapi responnya sangat sedikit pada anak yang lebih tua dan tidak sama sekali pada
orang dewasa, hal ini menunjukkan ketidak mampuan kelenjar tiroid mengsintesis;
Penderita ini memerlukan pengobatan dengan T4 . (Nelson 16)

PENGOBATAN STRUMA SPORADIK

T4 treatment is indicated in patients with high serum TSH concentrations, in whom it

may result in a decrease in goiter size.
Patients who are euthyroid can also be treated with T4 in an attempt to reduce the goiter,
but it is not often effective. (LaFranchi, 2001)
 Endokrinologi Anak

GANGGUAN PERTUMBUHAN , PENGGUNAAN GROWTH CHART.

Satriono, M.Sc., Dr., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

SPM PERAWAKAN PENDEK

Pendahuluan
Perawakan pendek atau short stature merupakan suatu terminologi mengenai
panjang/tinggi badan yang berada di bawah persentil 3 atau 2SD pada kurva
pertumbuhan yang berlaku pada populasi tersebut.
Perawakan pendek dapat merupakan variasi normal perawakan pendek dan dapat
disebabkan berbagai kelainan endokrin maupun non endokrin. Ada beberapa klasifikasi
perawakan pendek yaitu :
a. Varian normal (umumnya familial atau penyebab tidak diketahui)
b. primer / instrinsic ( kelainan pada sel atau struktur dari growth plate )
c. sekunder / external (kelainan karena pengaruh luar dari growth plate)
d. Perawakan pendek Idiopatik

a. Varian Normal
Merupakan variasi normal perawakan pendek :
1. Familial/genetic short stature
Tanda2 :
pertumbuhan selalu dibawah p.3
Kecepatan pertumbuhan normal (sekitar 2.5th centile )
Umur tulang sesuai umur kronologis
Riwayat keluarga pendek terutama salah satu atau kedua orang tua pendek ( genetically
short)
Tinggi akhir dibawah p.3 tetapi masih dalam range potensi tinggi genetik
Onset pubertas normal

2. Constitutional delay of growth and puberty/maturation

Tanda2 :
Perawakan pendek saat masa anak2
Perlambatan pertumbuhan linier pada 3 tahun pertama kehidupan
Pertumbuhan linier normal atau hampir normal pada saat prepubertas dan selalu berada
dibawah p.3
Umur tulang terlambat tetapi masih sesuai dengan height age
Onset pubertas terlambat
Tinggi akhir dalam batas normal
Biasanya ada riwayat pubertas terlambat dalam keluarga
b. Perawakan pendek primer / instrinsik
1.Sindrom-sindrom yang dihubungkan
dengan kelainan kromosom
Sindrom Turner
Sindrom Down
2.Sindrom sindrom lain, misalnya:
Sindrom Noonan
Sindrom Prader-Labhart-Willi
Sindrom Russell Silver
Sindrme Seckel
Sindrom Hutchinson Gilfort
Sindrom Cockayne
3.IUGR, yang disebabkan
genetik atau kelainan metabolik
Adanya kelainan saat dalam kandungan oleh infeksi, obat-obatan, alkohol,dll
Disfungsi plasenta berat
4.Skeletal dysplasia/osteochondrodysplasia
Achondroplasia
Hypochondroplasia
Hypophosphatemic rickets
5. Storage disorders (jarang)
Mucopolysaccharidoses
Glycogen storage disease
Osteogenesis imperfecta

c. Perawakan pendek sekunder / extrinsik

1. Penyakit / kelainan sistemik
(chronic disease)
Misalnya kelainan jantung, paru, liver, intestinal, renal, hematologi, CNS dan generalized
inflammatory disease, infeksi kronik, anemia kronik,malabsorbsi
2. Malnutrisi
3. kelainan endokrin
Hipotiroid
Growth hormon defisiensi
IGF-1 defect
Pseudohypoparathyroidism
The cushing sindrom
Mauriac syndrome (karena regulasi glukosa yang jelek pada pasien diabetes mellitus)
Hypogonadism
Rickets
3. Metabolik disorders
Beberapa inborn errors of metabolism misalnya sindrom Bartter
4. Iatrogenic short stature
Terapi steroid, radiasi
5. Psychososial short stature atau emotional ( Psychosocial dwarfism)
d. Perawakan pendek idiopatik
Tidak dijumpai kelainan

Pemantauan kecepatan pertumbuhan sangat dibutuhkan untuk menilai normal tidaknya

pertumbuhan anak
Deteksi dini penyimpangan pertumbuhan diperlukan untuk pemberian terapi lebih awal
sehingga memberi hasil yang optimum

Langkah Promotif / Preventif

Penilaian pertumbuhan merupakan hal penting bagi dokter anak dan kesehatan anak
komunitas. Beberapa kondisi lokal atau sistemik dapat berakibat buruk terhadap
pertumbuhan . Analisis proses pertumbuhan mempunyai peran penting sebagai suatu
langkah awal dari evaluasi.
Pengukuran tinggi badan merupakan hal yang mudah dilakukan dan tidak memerlukan
peralatan canggih dan dapat dilaksanakan secara rutin sejak mulai bayi seperti halnya
berat badan.
Anak 0-12 bulan setiap bulan
Anak 1-2 tahun setiap 3 bulan
Anak 2-12 tahun setiap 6 bulan
12 tahun-akhir pubertas setiap tahun

Interpretasi hasil pengukuran :

1. Bila tinggi badan diantara 2SD dan 3SD, 80% merupakan varian normal. Bila
dibawah 3SD 80% merupakan patologis.
2. Penurunan kecepatan pertumbuhan anak antara umur 2 - 12 tahun (memotong
beberapa garis persentil) harus dianggap patologis kecuali dibuktikan lain.
3. Ratio TB dan BB mungkin bisa mempunyai nilai diagnostik dalam menentukan
etiologi. (Pada kelainan endokrin umumnya tidak mengganggu BB sehingga anak terlihat
gemuk.Kelainan sistemik umumnya lebih mengganggu BB dibanding TB sehingga anak
lebih terlihat kurus)

Langkah Diagnostik
I.Anamnesis (lihat tabel)
-Pola pertumbuhan anak (berat badan dan tinggi badan mulai bayi)
-Riwayat kehamilan ibu
-Riwayata kelahiran dan perkembangan fisis
-Riwayat penyakit kronis , operasi dan obat obatan
-Riwayat penyakit dalam keluarga
-Riwayat pubertas orang tua
-Riwayat nutrisi/ diet
-Aspek psikososial

-Target height / mid parental height :

Laki laki = {TB ayah + (TB Ibu + 13 )} x
Perempuan = {TB Ibu + (TB ayah 13 )} x
-Prakiraan tinggi dewasa ( potensi tinggi genetik) dapat dihitung dari midparental
height dengan rumus :

Potensi tinggi genetik = mid parental height 8,5 cm

( Potensi tinggi genetik adalah: Rentang nilai tinggi badan akhir seseorang akibat dari
kedua orang tua biologis )

II.Pemeriksaan fisis
-Tinggi Badan,Berat Badan, rentang lengan, tinggi duduk ( proporsi tubuh ), lingkar
kepala
Tubuh yang tidak proporsional dapat terlihat pada beberapa kelainan tulang, kelainan
dismorfik seperti sindrom2 ttt
-Ada tidaknya stigmata dismorfik /sindrom
-Ada tidaknya kelainan tulang
-Ada tidaknya kelainan GIT, paru, jantung, urogenital ,kulit dan organ lain
-Ada tidaknya kelainan /gejala neurologi
-Status pubertas/ tingkat maturasi kelamin
-Pemeriksaan fisik lain

III.Pemeriksaan penunjang: (lihat tabel 2)

-Lab rutin mencari penyebab infeksi sistemik :
DL / UL / FL
-Bone age / umur tulang

Kriteria awal untuk melakukan pemeriksaan lanjutan anak dengan perawakan pendek:
1. TB dibawah persentil 3 atau 2SD
2. Kecepatan tumbuh dibawah persentil 25
3. Prakiraan tinggi dewasa dibawah target height
4. Umur tulang (bone age) terlambat

Pemeriksaan lanjutan
-Fungsi tiroid
-Analisis kromosom ( pada wanita) : untuk diagnosis sindrom Turner
-Uji stimulasi / provokasi untuk hormon pertumbuhan (harus dilakukan oleh dokter di
sub.endokrinologi anak)

Terapi

I.Medikamentosa

Pengobatan anak dengan perawakan pendek harus sesuai dengan dasar etiologinya. Anak
dengan variasi normal perawakan pendek tidak memerlukan pengobatan, sedang dengan
kelainan patologis terapi sesuai dengan etiologinya. :
 nutrisi
penyakit organik
hormonal
mechanikal/pembedahan

Untuk terapi hormon pertumbuhan

( dilakukan atas advis dan pengawasan dokter di sub.endokrinologi anak ):

Sebelum terapi dimulai , kriteria anak dengan defisiensi hormon pertumbuhan harus
terlebih dahulu ditetapkan :

1. TB dibawah persentil ke3 atau 2SD

2. Kecepatan tumbuh dibawah p.25
3. Usia tulang terlambat > 2 tahun
4. Kadar GH < 10 ng/ml pada uji provokasi
5. Tidak ada dismorfik, kelainan tulang maupun sindrom tertentu.

Disamping terapi untuk anak dengan defisiensi hormon pertumbuhan, terapi ini
diberikan juga untuk anak dengan sindrom Turner, sindrom Noonan, anak dengan IUGR,
gagal ginjal kronik, sindrom Prader Willi, sindrom Leri-weill

Hormon pertumbuhan ini diberikan secara sc dengan dosis 2 IU/m2/hari atau 0,05
mg/kg/hari pada defisiensi hormon pertumbuhan dan 0,08 mg/kg/hari untuk sindroma
Turner dan kronik renal insuffisiensi
Pemberian diberikan sebanyak 6 kali perminggu
Komplikasi terapi hormon pertumbuhan :
Pseudotumor serebri karena retensi air dan natrium ( idiopathic intracranial
hypertension) : sangat jarang
FT4 rendah ( transient)
Insulin resistance (jarang)
Kontraindikasi terapi hormon pertumbuhan
Bloom syndrome

II.Bedah

Pada kasus tertentu misalnya skeletal dysplasia diperlukan koreksi mechanical /

pembedahan.(bone lengthening)
Juga pada kasus karena tumor

III.Suportif
psychosocial

IV.Lain-lain (rujukan subspesialis, rujukan spesialisasi lainnya dll)

Sesuai etiologi

Pemantauan (Monitoring)

I.Terapi
Monitoring tinggi badan dan efek samping
Terapi hormon dihentikan bila lempeng epifisis telah menutup atau respon terapi tidak
adekuat. Ciri respon terapi yang tidak adekuat bila pertambahan kecepatan pertumbuhan
lebih kecil dari 2 cm dalam 6 bulan
Bila ada efek samping pseudotumor cerebri karena retensi air dan natrium ( pada
umumnya di bulan pertama) dengan keluhan sakit kepala, mual, pusing, ataxia atau
gangguan penglihatan terapi sementara dihentikan

II.Tumbuh Kembang

Perawakan pendek patologis pasti akan berpengaruh pada tumbuh kembang anak.
Diagnosis dini dan terapi dini akan memperbaiki tumbuh kembang anak
Lampiran tambahan khusus untuk tabel, gambar, algoritma.

2. Tabel Perbedaan normal usia

kronologis dan usia tulang
Usia kronologis (tahun)
2 SD
Laki-laki perempuan
3-6 bulan 0-1 0-1
 1-1,5 tahun 3-4 2-3
2 tahun 7-11 6-10

> 2 tahun 13-14 12-13

(Dikutip dari : Hung Wellington. Growth and development: normal
and variant .In :Moore WT, Eastman. Diagnosis
Endocrinology, 2nded,Mosby,1996,52-63

3.Tabel :Important historical features in the evaluation of short stature

Historical features
Maternal History
Length of gestation, previous abortions,
complications of pregnancy, smooking,
alcohol and drug use
Anthropometric values
Birth length and weight, dysmorpholism
Neonatal and developmental history
Neonatal hypoglycemia, prolong neonatal
jaundice, developmental milestones
Nutritional history
Inadequate caloric intake
Psychosocial history
Child abuse or neglect
Family history
Genetic syndrome
Family heights, age of onset of
puberty, age of menarche
Review of systems
Spesific chronic organic disorders
Medical history
Glucocorticoid, stimulant
Diagnostic implications
Fetal alcohol syndrome, Fetal hydantoin
syndrome, TORCH infection
IUGR, Turner syndrome, other short stature
syndrome
Hypopituitarism, Hypothyroidism
Failure to thrive
Psychosocialshort stature
Skeletal dysplasia, inborn errors of
metabolism
Familialshort stature, constitutional delayed
growth, sexual maturation
Cardiac, pulmonary, hepatic, renal disorders
Drug-induced growth retardation

(Dikutip dari : Hung Wellington. Growth and development: normal and variant .In: Moore WT, Eastman. Diagnosis

Endocrinology, 2nded, Mosby,1996,52-63

4. Tabel pemeriksaan penunjang dan kelainan klinis
Pemeriksaan klinis Kelainan klinis
Bone age
Analisis chromosom Sindoma Turner
FSH
Skrining penyakit sistemik Anemia
pemeriksaan darah Tuberkulosis
lengkap
laju endap darah Gagal ginjal kronik, Renal tubular asidosis
albumin, creatinin, Na,K,
Hipotiroid
analisis gas darah
TSH dan Free T4 Vit D defisiensi, Rickets,
Calcium,phoshor,alkaline hypophosphatemia
Phosphat
Infeksi ginjal

Urine rutin dan cultur

GH / IGF-1 axis Defisiensi hormon pertumbuhan
IGF-1 dan IGFBP-3

Tes stimulasi hormon

Pencitraan Skeletal dysplasia
Bone survey Adanya defek struktural yang dihubungkan
dengan defisiensi hormon pertumbuhan
atau defisiensi hormon hipofisis multiple
USG kepala pada bayi
CT scan atau MRI Etiologi defisiensi hormon pertumbuhan
 GROWTH CHART

Satriono, M.Sc., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

BB / TB ANAK LAKI-LAKI UMUR 00 - 36 BULAN

BB / TB ANAK PEREMPUAN UMUR 00 - 36 BULAN
BMI UNTUK ANAK LAKI-LAKI
BMI UNTUK ANAK PEREMPUAN
 Endokrinologi Anak

KELAINAN GENITALIA PADA ANAK

Satriono, M.Sc., Dr., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

GENITAL DISORDERS IN CHILDREN

MICROPENIS
The length of the normal newborn penis is 3.5 0.7 cm.
Micropenis ----- < 3 cm (Age 1 11 yr)

Etiology
Micropenis results from primary or secondary testicular failure during fetal life after
morphogenesis is complete.
Secondary congenital testicular failure is seen in anencephaly, pituitary agenesis, and
Kallmann, Noonan, Prader-Willi, and other syndromes.
Other cases may be due to the presence of rudimentary testes, dwarfism, or maternal
hormone administrations.

Etiology

Gonadotropin deficiency
GH deficiency --- Micropenis +hypoglycemia
Hypopituitarisme, pituitary agenesis,dwarfism
Anencephaly,
Anorchia,
Rudimentary testes
Kallmann, Noonan, Prader-Willi syndromes.
Maternal hormone administrations.

Treatment
Treatment options include
a trial of hormonal stimulation (testosteron) , or
rearing as female, with later genital reconstruction.
Adjustment to the male gender role and sexual satisfaction is possible in some of these
patients.

Agenesis of the penis

Agenesis of the penis is rare and usually associated with anorectal and renal anomalies.
If the child is likely to survive the associated anomalies, rearing as a female is
recommended, with later genital reconstruction.

UNDESCENDED TESTES

UNDESCENDED AND ECTOPIC TESTES.

Failure to find one or both testes in the scrotum may indicate any of a variety of
congenital or acquired conditions, including true undescended testes, ectopic or
maldescended testes, retractile testes, and absent testes.

True undescended testes and maldescended or ectopic testes can be differentiated from
each other only by surgical exploration, and both conditions usually are referred to as
cryptorchidism or hidden testes.

The true undescended testis is found along the normal path of descent, and the processus
vaginalis is usually patent. The ectopic testis has completed its descent through the
inguinal canal but ends up in a subcutaneous location other than the scrotum, the most
common being a point lateral to the external inguinal ring, below the subcutaneous fascia.

CRYPTORCHIDISM
Cryptorchidism is present in 0.7% of children after 1 yr of age and in adults. The
incidence is high in full-term newborns (3.4%) and increases with prematurity (to 17% in
infants with birthweights between 2,000 and 2,500 g and to 100% in those under 900 g).
This reflects the fact that testicular descent from the inguinal canal into the scrotum takes
place in the 7th mo of gestation. Spontaneous testicular descent does not occur after the
age of 1 yr.

The consequences of cryptorchidism include infertility in adulthood, tumor development

in the undescended testes, associated hernias, torsion of the cryptorchid testis, and the
possible psychologic effects of an empty scrotum. Cryptorchidism is bilateral in up to
30% of cases. Infertility is the rule in adults with untreated bilateral cryptorchidism, and
of those treated in childhood less than one third will be fertile. With unilateral
undescended testis, the rate of infertility is probably similar to that in the general
population.

The undescended testis is often histologically normal at birth, but failure of development
and atrophy are detectable by the end of the 1st yr of life, and by the end of the 2nd yr the
number of germ cells in the affected testis is severely reduced. Surgical correction at an
early age results in a greater probability of fertility in adulthood. The patient with
cryptorchidism has a 20{endash}44% increase in risk of developing a malignant
testicular tumor in the 3rd or 4th decade of life. Patients with untreated intra-abdominal
cryptorchidism or those who underwent surgical correction during or after puberty are at
greatest risk. Although surgical correction of the cryptorchidism may not change the
overall risk of malignant transformation, very few cases of tumors have been reported in
patients whose operations were performed before 8 yr of age. Carcinoma in situ is
occasionally discovered when the testis is biopsied at the time of orchiopexy or during
evaluation for infertility later in life; its significance is unclear.
The most common tumor developing in undescended testes is the seminoma (60%); in
contrast, seminomas represent only 30% of tumors occurring in normally descended
testes.
Indirect inguinal hernias always accompany true undescended testes and are common
with ectopic testes. Torsion and infarction of the undescended testis can occur because of
excessive mobility of such testes. The treatment of the unilateral cryptorchid testis is best
undertaken early in the 2nd yr of life. Most testes located extra-abdominally can be
brought down to the scrotum and the associated hernia corrected with an operation
(orchiopexy). This can often be performed without hospitalization. When the testis is not
palpable, preoperative laparoscopy is used to determine its location. In the majority of
cases, orchiopexy of the intra-abdominal testis located immediately inside the internal
inguinal ring offers little difficulty, but orchiectomy should be considered in the more
difficult cases or when the testis appears to be severely atrophied. Two-stage orchidopexy
is sometimes needed in high abdominal testes. Testicular prostheses are available for
older children and adolescents when the absence of the gonad in the scrotum may have an
undesirable psychologic effect but, the advisability of using silicone implants has been
questioned.

Treatment of bilateral undescended testes is identical to the treatment of unilateral

undescended testis when the testes are palpable. When testes are not palpable, however,
differential diagnosis must be made from absent testes by measuring serum testosterone
levels before and after stimulation with human chorionic gonadotropin (hCG). If the
testosterone level rises, an abdominal exploration and orchiopexy should be undertaken.
A negative response does not rule out the possible existence of intra-abdominal testicular
tissue. An attempt is made to preserve these gonads for hormonal production after
puberty; the likelihood of preserving fertility is very low.

Hormonal treatment
Hormonal treatment with

hCG or
luteinizing hormonereleasing hormone (LH-RH) .
Some believe that preoperative treatment with hCG facilitates surgery.

Recent reports on the advantages of hormonal treatment with LH-RH followed by HCG
for nonresponders, and early surgery for the 60% of testes that fail to descend, need to be
weighed against potential detrimental effects on pubertal penile growth of early exposure
of the penile receptors to testosterone.

RETRACTILE TESTES.
These testes retract into the inguinal canal in response to an exaggerated cremasteric
reflex. The cremasteric reflex is weak or absent at birth. Consequently, when testes that
were palpable at birth become nonpalpable later, retractile testes should be suspected.
Retractile testes can be brought down by careful palpation when the child is relaxed in a
warm room, and scrotal examination is facilitated if the child is in a squatting position.
Often more than one examination is required to establish the diagnosis. The retractile
testis usually adopts a permanent scrotal position during puberty and has none of the
complications commonly associated with the true undescended or ectopic testis.

ABSENT TESTES.
Approximately 20% of nonpalpable testes are absent. Congenital absence of the testis is
possible, but it is quite rare and may be associated with some degree of feminization of
the internal organs on the ipsilateral side. More commonly, the fetal testis disappears
some time after the differentiation of the internal and external genitalia has occurred. This
vanishing of the testis is usually attributed to a vascular accident that has taken place
prenatally or after birth but was not recognized clinically. At exploration, the spermatic
vessels and the vas deferens end blindly, usually somewhere in the inguinal region or in
the scrotum. Because this condition is analogous to testicular torsion, some authors
advocate fixation of the contralateral testis to prevent torsion from occurring in the
remaining gonad. In these cases, placement of a testicular prosthesis can be considered as
well.
 Endokrinologi Anak

HIPERPLASIA ADRENAL KONGENITAL.

Satriono, M.Sc., Dr., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

Congenital Adrenal Hyperplasia

PATHOGENESIS.
When the adrenogenital syndrome is associated with congenital adrenal hyperplasia, it is
caused by a family of autosomal recessive disorders of adrenal steroidogenesis leading to
a deficiency of cortisol .
The deficiency of cortisol results in increased secretion of corticotropin, which leads in
turn to adrenocortical hyperplasia and overproduction of intermediary metabolites.
Severe and mild forms of these disorders, caused by variations in the severity of the
genetic mutations, have been reported.

Congenital Adrenal Hyperplasia

Deficiency of 21-hydroxylase accounts for 95% of affected patients.

CLINICAL MANIFESTATIONS
Most patients with congenital adrenal hyperplasia have the defect in 21-hydroxylation
and exhibit the classic form of the disease.
with screening 75% of infants are salt losers,
without screening 50% of clinically diagnosed infants are salt losers, presumably because
of undiagnosed neonatal deaths.

Figure 5292. A, A 6-yr-old girl with congenital virilizing

adrenal hyperplasia. The height age was 8.5 yr; the bone age
was 13 yr; and urinary 17-ketosteroids were 50 mg/24 hr.
B, Notice the clitoral enlargement and labial fusion.
C, Five-yr-old brother of girl in A was not considered to be
abnormal by the parents. The height age was 8 yr; the bone
age was 12.5 yr; and the urinary 17-ketosteroids were 36
mg/24 hr.

Figure 5293. Three female pseudohemaphrodites with

untreated congenital adrenal hyperplasia. All were
erroneously assigned male sex at birth, and each had normal
female sex-chromosome complement. Infants A and B were
salt losers and were diagnosed in early infancy. Infant C
was referred at 1 yr of age because of bilateral
cryptorchidism.
Notice the completely penile urethra; such complete degrees
of masculinization in females with adrenal hyperplasia are
rare; most of these infants are salt losers.
 LATIHAN BELAJAR HIPOTIROIDISME
Satriono, M.Sc., SpA(K)

1.DEFINISI Hipotiroidisme:
1 .Defisiensi hormon T4
2.Defisiensi hormon tiroksin
3.Defisiensi hormon T3
4.Defisiensi hormon triiodo tironin

2.Penyebab terbanyak Hipotiroidisme Kongenital dengan gejala struma.

A.Disgenesis /Atireosis tiroid.
B.Dyshormogenesis
C.Obat-obatan (KJ, Goitrogen)
D.Thyroid HormonE Unresponsiveness
E.Defisisensi TSH

3. Simptom HIPOTIROIDISME BAYI sebagai berikut, KECUALI

A.Obstipasi
B.Malas menetek (Minum susu)
C.Bayi hiper aktif
D.Ikterus neonatorum Prolongatus
E.Hipotermi

4.Signs (Gejala Klinik) HIPOTIROIDISME BAYI yang disebabkan tiroid ektopik:

1.Hipotoni
2. Distenden Abdomen
3.Hernia umbilikaslis
4.Gondok

5.Signs (Gejala Klinik) HIPOTIROIDISME BAYI sebagai berikut, KECUALI

A.Syndney Line
B.Gondok
C. Jantung : Kardiomegali
D.Jantung: Bising +
E. Fontanela post terbuka waktu lahir

6. Simtom HIPOTIROIDISME ANAK

1.Pertumbuhan Mental terlambat
2.Pertumbuhan Fisik terlambat
3.Pertumbuhan Dentisi erlambat
4.Pertumbuhan Pubertas terlambat
7.Signs (Gejala Klinik) HIPOTIROIDISME ANAK
1.Goiter bisa ada / tidak
2.Kulit: Pucat
3.Kulit: Tebal,
4.Kulit:Karotinemik,

8. Pemeriksaan X Ray pada HIPOTIROIDISME ANAK :

1. disgenesis epifisis (Wilkin)
2. iliac index meningkat
3. Bone Age terlambat
4. sudut asetabulum menurun

9. Pemeriksaan yang tak terlalu perlu dikerjakan pada hipotiroidisme bayi/anak:

A.Scanning Tiroid
B.EEG
C.EKG
D.EMG (Electromyogram)
E. BMR

10.Diagnostik HIPOTIROIDISME :
1.Hiperkolesterolemia
2.Hb rendah
3. Bone Age terlambat
4.TSH sensitif meningkat

11.Diagnostik HIPOTIROIDISME :
1.Hipotoni
2.Ikterus neonatorum Prolongatus
3. Bone Age terlambat
4.EKG Low Voltage

12. Sekarang untuk terapi hipotiroidisme digunakan:

1. Sodium Levo Thyroxin
2. Thyrax (Organon)
3. Euthyrox (Merck)
4.Thyranon

13.Penyakit/Kelainan yang harus di Diagnosis Banding dengan hipotiroidisme:

1.Kondrodistrofi
2.Dwarfism
3.Turner Syndrome
4.Downs Syndrome

14.Bila hipotiroidisme diterapi terlambat / tanpa terapi akan berakibat

1.Kematian o.k.: Obstruksi saluran nafas
2.Kematian o.k.: Infeksi
 3.Mental Retardation
4.Sequele Nerologik : inkoordinasi

15. UJI SARING (SCREENING TEST) HIPOTIROIDISME KONGENITAL PADA

NEONATUS dipakai :
A.TRH
B.TSH
C.TBG
D.T3
E.T4

16. Hal-hal yang benar mengenai seorang anak laki-laki yang didiagnosis hipotiroidisme
pada umur 3 tahun kemudian mendapat terapi hormone tiroksin adekuat selama 4 tahun ,
keadaannya pada umur 7 tahun:
1. Height Age (Umur Perawakan) = 7 tahun.
2. IQ rendah .
3. Bone Age (Usia tulang) = 7 tahun
4. Bradikardi

17..KLASIFIKASI HIPOTIROIDISME berdasarkan terjadinya

A.. HIPOTIROIDISME KONGENITAL & HIPOTIRODISME DIDAPAT
(ACQUIRED)
B. HIPOTIROIDISME ENDEMIK & HIPOTIROIDISME SPORADIK
C. HIPOTIROIDISME BAYI & HIPOTIROIDISME ANAK
D. HIPOTIROIDISME PRIMER,SEKUNDER,TERTIER
E. HIPOTIROIDISME DENGAN STRUMA & HIPOTIROIDISME TANPA
STRUMA

18.Penyebab terbanyak Hipotiroidisme didapat (Acquired) sporadik:

A.Operasi
B.Auto immune Disease- Tiroidits Limfositik Kronik (HASHIMOTO)
C.Infeksi
D.Obat-obatan
E.Defisiensi Iodium

19. Simptom HIPOTIROIDISME BAYI sebagai berikut, KECUALI

A.Obstipasi
B.Malas menetek (Minum susu)
C.Letargi - mau tidur saja
D.Ikterus neonatorum Prolongatus
E.Makroglosi

20.Signs (Gejala Klinik) HIPOTIROIDISME BAYI :

1. Jantung : Kardiomegali
2.Jantung: Bising +
 3. Fontanela post terbuka waktu lahir
4.Brusfield's spot

21.Signs (Gejala Klinik) HIPOTIROIDISME BAYI sebagai berikut, KECUALI

A.Hernia umbilikaslis
B.miksedema
C.Nystagmus
D.Hipotoni
E.Muka Sembab

22. Simtom HIPOTIROIDISME ANAK

1.Gemuk
2.Struma
3.Bodoh
4.Cold Intolerance

23.Signs (Gejala Klinik) HIPOTIROIDISME ANAK

1.Kulit: Dingin,
2.Miksedema
3.Hipotoni Otot Lembek
4.APR , KPR Lambat
24. Pemeriksaan Hormonal pada HIPOTIROIDISME ANAK :
1.Free T4 menurun
2. TSH sensitif menningkat
3.T4 total menurun
4.TSH meningkat

25.Untuk bedakan H Primer dan H Sekunder dlakukan :

A.Uji TSH
B.Uji TRH
C.Uji haus
D.EMG
E.TSH Screening Test

26.Diagnostik HIPOTIROIDISME :
1 Free T4 menurun
2.EEG Low Voltage
3.EKG Low Voltage
4.EMG (Electromyogram) memanjang

27.Diagnostik HIPOTIROIDISME :
1.Muka Sembab
2.Hipotermi
3.TSH sensitif meningkat
4.EMG (Electromyogram) memanjang
28. Pengobatan hipotiroidisme kongenital:
1. Dilakukan untuk seumur hidup.
2.Menggunakan obat ekstrak tiroid.
3.Menggunakan sodium levo thyroxin
4.Menggunakan obat steroid.

29.Penyakit/Kelainan yang harus di Diagnosis Banding dengan hipotiroidisme:

1.Akondroplasia
2.Hipopituitarisme
3.Turner Syndrome
4.Downs Syndrome

30.Bila hipotiroidisme diterapi terlambat / tanpa terapi akan berakibat

1.Kematian o.k.: Obstruksi saluran nafas
2.Kematian o.k.: Infeksi
3.Mental Retardation
4.Sequele Nerologik : ataksi,spastik

31. Laboratory evidence of classic congenital hypothyroidism in a sample of blood taken

on the third day of life includes
A. elevated TSH, low T4
B. elevated TSH, high T3
C. low TSH, low T4
D. low T4, high T3
E. low TBG, low T4

32.Penyebab Hipotiroidisme Kongenital dengan kadar free T4 yang normal..

A.Disgenesis /Atireosis tiroid.
B.Dyshormogenesis
C.Obat-obatan (KJ, Goitrogen)
D.Thyroid HormonE Unresponsiveness
E.Defisisensi TSH
LATIHAN BELAJAR HIPOTIROIDISME DD NYA DOWN'S SYNDROME
Satriono, M.Sc., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

1. DOWNS SYNDROME (DS)

1.Dipublikasi pertama kali tahun 1866
2.Disebut juga Mongolisme
3.Insidens : 1-2 /1000 kelahiran
4.Etiologi dikemukanan oleh Le Jeune dkk tahun 1959

2. TRISOMI 21 pada down syndrome

1. Trisomi Reguler 95 %
2. Translokasi 4-5 %
3.Mosaik -1%
4.Yang menemukan Le Jeune dkk tahun 1959

3.Gejala Klinik DS pada MATA

1.Nistagmus
2.Strabismus
3.Hipertelorisme
4.Brusfields Spot

4.Gambar di samping ini ini adalah :

A.ARCUS = BUSUR
B.LOOP = LENGKUNG
C. TRI RADIUS
D.PUSARAN (WHORL)
E. TENTED ARCH
LATIHAN BELAJAR DIABETES MELLITUS PADA ANAK
Satriono, M.Sc., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

Diabetes mellitus in Children:

1. is a syndrome of disturbed energy homeostasis caused by a deficiency of insulin and
resulting in abnormal metabolism of carbohydrate, protein, and fat.
2.It is the most common endocrine-metabolic disorder of childhood and adolescence .
3.important consequences for physical and emotional development.
4 is a syndrome of disturbed energy homeostasis caused by insulin action and resulting
in abnormal metabolism of carbohydrate, protein, and fat.

2. Classification of Diabetes Mellitus in Children and Adolescents for. Insulindependent

(IDDM, type I):
based on criteria:
1glucosuria
2. ketonuria,
3.random plasma glucose (PG) >200 mg/dL
4.FPG <140 mg/dL with 2-hr value >140 mg/dL during OGTT

3.Diabetes mellitus in Children:

1.Males and females are almost equally affected;
2.there is no apparent correlation with socioeconomic status.
3.Peaks of presentation occur at 57 yr of age
4.Peaks of presentation occur at the time of puberty

4.The classic presentation of diabetes in children :

1. polyuria,
2.polydipsia,
3.polyphagia,
4.weight gain

5. Ketaocidosis in diabetic children.

1. approximately 25% of diabetic children
2.The early manifestations consist of vomiting.
3.The early manifestations consist of polyuria..
4.The early manifestations consist dehydration.

5. Ketaocidosis in diabetic children.

1. approximately 95% of diabetic children
2.The early manifestations consist of vomiting.
3.The early manifestations consist of dysuria..
4.The early manifestations consist dehydration

5.Clinical sign In diabetic children with more prolonged and severe cases of Ketaocidosis
:
A.vomiting.
B. polyuria..
C. dehydration
D.Kussmaul respirations
E. Dispnoe deffort.

.
6.The diagnosis of diabetes mellitus in children based on the demonstration of :
1.hyperglycemia
2.glucosuria with or without ketonuria.
3.decreased C-peptide
4.increased HbA1c

7.the principle of treatment of diabetes mellitus in children :

1.insulin
2.nutrition support
3.exercise
4.education and counseling

8. Hal-hal yang ada hubungannya dengan PROGNOSIS DM pada anak:

1.Sering terdapat komplikasi Visual dan mata.
2.Pubertas dapat terlambat
3.Dilaporkan adanya kematian akibat bunuh diri.
4.Tinggi badan akhir masih dalam batas normal .
LATIHAN BELAJAR STRUMA PADA ANAK.
Satriono, M.Sc., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

Gradasi pembesaran kelenjar tiroid menurut WHO:

A.Derajat O, 1 A, 1B , 2 dan 3.
B.Derajat O, 1 , 2 dan 3.
C.Derajat O, 1 A, 1B , 2
D.Derajat O, 1 , 2.
E.Derajat O, 1 , 2 .3

FILL IN :

Gradasi pembesaran kelenjar tiroid pada survey GAKI di Indonesia

Derajat ..,,,,,...

GRADASI MENURUT WHO . , .., ..

Struma bisa digolongkan ke dalam :

1..
2..
3..l

PATOFISIOLOGI TERJADINYA STRUMA:

1
2
3.
LATIHAN BELAJAR GANGGUAN PERTUMBUHAN .
Satriono, M.Sc., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

PERAWAKAN PENDEK

1.Perawakan pendek atau short stature merupakan suatu terminologi mengenai

panjang/tinggi badan yang berada di bawah .. atau pada kurva
pertumbuhan yang berlaku pada populasi tersebut.
A. persentil ke 3 , 3 Standard Deviation
B. persentil ke 3 , 2 Standard Deviation
C. persentil ke 3 , 1 Standard Deviation
D. persentil ke 5 , 2 Standard Deviation
E. persentil ke 5 , 3 S Standard Deviation

2.Perawakan pendek primer / instrinsik:

A. Hipotiroidisme
B.Sindrom Turner
C .cushing sindrom
D.Hypogonadism
E.Rickets

Ada beberapa klasifikasi perawakan pendek yaitu :

a. .......................................
b. ......................................
c. ........................................
d. .....................................

b. Perawakan pendek primer / instrinsik

1.Sindrom-sindrom yang dihubungkan dengan kelainan kromosom
Sindrom Turner
Sindrom Down
2.Sindrom sindrom lain, misalnya:
Sindrom Noonan
Sindrom Prader-Labhart-Willi
Sindrom Russell Silver
Sindrme Seckel
Sindrom Hutchinson Gilfort
Sindrom Cockayne

c. Perawakan pendek sekunder / extrinsik

1. Penyakit / kelainan sistemik
(chronic disease)
Misalnya kelainan jantung, paru, liver, intestinal, renal, hematologi, CNS dan generalized
inflammatory disease, infeksi kronik, anemia kronik,malabsorbsi
2. Malnutrisi
3. kelainan endokrin
Hipotiroid
Growth hormon defisiensi
IGF-1 defect
Pseudohypoparathyroidism
The cushing sindrom
Mauriac syndrome (karena regulasi glukosa yang jelek pada pasien diabetes mellitus)
Hypogonadism
Rickets
LATIHAN BELAJAR KELAINAN GENITALIA PADA ANAK.
Satriono, M.Sc., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

1.Micropenis (Age 1 11 yr) if length of the penis :

A. < 1 cm
B. < 2 cm
C.< 2,5 cm
D. < 3 cm
E < 4 cm

SOAL FILL IN
Hormonal treatment for cryptorchidism by using :.....................................
or ..................................

SOAL BENAR/SALAH
Some believe that preoperative treatment with hCG facilitates surgery.
JAWAB: A.BENAR
B.SALAH
LATIHAN BELAJAR HIPERPLASIA ADRENAL KONGENITAL.
Satriono, M.Sc., SpA(K)

Terakhir diperbaharui pada / Page updated :10/10/2006

1. Penyebab Congenital Adrenal Hyperplasia terbanyak:

A.Deficiency of 21-hydroxylase
B.Excess of 21-hydroxylase
C. Trisomy 21
D.Trisomy 18
E. Defisiensi GnRH

2. Pada pemeriksaan kromosome ketiga bayi di atas 46, XX.

Ketiga bayi tsb adalah: . Dengan
A. male pseudohemaphrodites , Untreated congenital adrenal hyperplasia
B. female pseudohemaphrodites , Untreated congenital adrenal hyperplasia
C. male pseudohemaphrodites , cryptorchisim
D. hemaphrodites , Untreated congenital adrenal hyperplasia
E. hemaphrodites

FILL IN

When the adrenogenital syndrome is associated with congenital adrenal hyperplasia, it is

caused by a family of .. disorders of adrenal steroidogenesis
leading to a deficiency of .. .
The deficiency of cortisol results in increased secretion of ., which leads in
turn to adrenocortical hyperplasia and overproduction of intermediary metabolites.
Severe and mild forms of these disorders, caused by variations in the severity of the
genetic mutations, have been reported.
Congenital Adrenal Hyperplasia
Deficiency of for 95% of affected patients.