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Endokrinologi Anak

PENGANTAR
PEDIATRIC ENDOCRINOLOGY
RUANG LINGKUP ENDOKRINOLOGI ANAK
Satriono, M.Sc., Dr., SpA(K)
Terakhir diperbaharui pada / Page updated :Thursday, November 18, 2004
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 Down’s 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 Down’s 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

GANGGUAN PERTUMBUHAN , PENGGUNAAN GROWTH CHART.
Satriono, M.Sc., Dr., SpA(K)

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)

Analisis proses pertumbuhan mempunyai peran penting sebagai suatu langkah awal dari evaluasi. Bila dibawah 3SD 80% merupakan patologis. Beberapa kondisi lokal atau sistemik dapat berakibat buruk terhadap pertumbuhan . · 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. operasi dan obat – obatan -Riwayat penyakit dalam keluarga -Riwayat pubertas orang tua . Penurunan kecepatan pertumbuhan anak antara umur 2 . 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.12 tahun (memotong beberapa garis persentil) harus dianggap patologis kecuali dibuktikan lain. 80% merupakan varian normal.Kelainan sistemik umumnya lebih mengganggu BB dibanding TB sehingga anak lebih terlihat kurus) Langkah Diagnostik I. 3.Anamnesis (lihat tabel) -Pola pertumbuhan anak (berat badan dan tinggi badan mulai bayi) -Riwayat kehamilan ibu -Riwayata kelahiran dan perkembangan fisis -Riwayat penyakit kronis . Bila tinggi badan diantara –2SD dan –3SD.d. Ratio TB dan BB mungkin bisa mempunyai nilai diagnostik dalam menentukan etiologi. (Pada kelainan endokrin umumnya tidak mengganggu BB sehingga anak terlihat gemuk. 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. 2.

urogenital .Berat Badan. Prakiraan tinggi dewasa dibawah target height 4.Pemeriksaan fisis -Tinggi Badan. rentang lengan. TB dibawah persentil 3 atau –2SD 2.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.-Riwayat nutrisi/ diet -Aspek psikososial -Target height / mid parental height : Laki – laki = {TB ayah + (TB Ibu + 13 )} x ½ Perempuan = {TB Ibu + (TB ayah – 13 )} x ½ -Prakiraan tinggi dewasa ( potensi tinggi genetik) dapat dihitung dari midparental height dengan rumus : Potensi tinggi genetik = mid parental height ± 8. jantung. kelainan dismorfik seperti sindrom2 ttt -Ada tidaknya stigmata dismorfik /sindrom -Ada tidaknya kelainan tulang -Ada tidaknya kelainan GIT. tinggi duduk ( proporsi tubuh ). lingkar kepala Tubuh yang tidak proporsional dapat terlihat pada beberapa kelainan tulang. Kecepatan tumbuh dibawah persentil 25 3.kulit dan organ lain -Ada tidaknya kelainan /gejala neurologi -Status pubertas/ tingkat maturasi kelamin -Pemeriksaan fisik lain III.endokrinologi anak) Terapi . paru.5 cm ( Potensi tinggi genetik adalah: Rentang nilai tinggi badan akhir seseorang akibat dari kedua orang tua biologis ) II. 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.

Disamping terapi untuk anak dengan defisiensi hormon pertumbuhan. kriteria anak dengan defisiensi hormon pertumbuhan harus terlebih dahulu ditetapkan : 1.08 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. sindrom Leri-weill Hormon pertumbuhan ini diberikan secara sc dengan dosis 2 IU/m2/hari atau 0. kelainan tulang maupun sindrom tertentu. sindrom Noonan. Kecepatan tumbuh dibawah p. sindrom Prader Willi. gagal ginjal kronik.I. Usia tulang terlambat > 2 tahun 4.05 mg/kg/hari pada defisiensi hormon pertumbuhan dan 0. Kadar GH < 10 ng/ml pada uji provokasi 5. Anak dengan variasi normal perawakan pendek tidak memerlukan pengobatan.Bedah . terapi ini diberikan juga untuk anak dengan sindrom Turner. : · nutrisi · penyakit organik · hormonal · mechanikal/pembedahan Untuk terapi hormon pertumbuhan ( dilakukan atas advis dan pengawasan dokter di sub. TB dibawah persentil ke3 atau –2SD 2. Tidak ada dismorfik. sedang dengan kelainan patologis terapi sesuai dengan etiologinya. anak dengan IUGR.25 3.Medikamentosa Pengobatan anak dengan perawakan pendek harus sesuai dengan dasar etiologinya.endokrinologi anak ): Sebelum terapi dimulai .

Tabel Perbedaan normal usia kronologis dan usia tulang Usia kronologis (tahun) ± 2 SD Laki-laki . (bone lengthening) Juga pada kasus karena tumor III.Lain-lain (rujukan subspesialis. mual. pusing. 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. gambar. rujukan spesialisasi lainnya dll) Sesuai etiologi Pemantauan (“Monitoring”) I. algoritma. 2. Diagnosis dini dan terapi dini akan memperbaiki tumbuh kembang anak Lampiran tambahan khusus untuk tabel.Pada kasus tertentu misalnya skeletal dysplasia diperlukan koreksi mechanical / pembedahan. ataxia atau gangguan penglihatan terapi sementara dihentikan II.Terapi · Monitoring tinggi badan dan efek samping · Terapi hormon dihentikan bila lempeng epifisis telah menutup atau respon terapi tidak adekuat.Tumbuh Kembang Perawakan pendek patologis pasti akan berpengaruh pada tumbuh kembang anak.Suportif · psychosocial IV.

2nded.Mosby. other short stature syndrome Neonatal and developmental history Neonatal hypoglycemia. dysmorpholism IUGR.In :Moore WT. Fetal hydantoin syndrome. previous abortions. Eastman. complications of pregnancy. TORCH infection Anthropometric values Birth length and weight.perempuan 3-6 bulan 0-1 0-1 1-1. Hypothyroidism Nutritional history .52-63 3. Turner syndrome. developmental milestones Hypopituitarism. Diagnosis Endocrinology. alcohol and drug use Fetal alcohol syndrome.1996.Tabel :Important historical features in the evaluation of short stature Historical features Diagnostic implications Maternal History Length of gestation. smooking. Growth and development: normal and variant .5 tahun 3-4 2-3 2 tahun 7-11 6-10 > 2 tahun 13-14 12-13 (Dikutip dari : Hung Wellington. prolong neonatal jaundice.

Diagnosis Endocrinology. Mosby.K. Tabel pemeriksaan penunjang dan kelainan klinis Pemeriksaan klinis Kelainan klinis Bone age Analisis chromosom FSH Sindoma Turner Skrining penyakit sistemik pemeriksaan darah lengkap laju endap darah albumin. pulmonary. constitutional delayed growth. Growth and development: normal and variant . 2nded. Na. age of menarche Familialshort stature.In: Moore WT. inborn errors of metabolism Family heights.52-63 4. creatinin. hepatic. renal disorders Medical history Glucocorticoid. analisis gas darah TSH dan Free T4 .Inadequate caloric intake Failure to thrive Psychosocial history Child abuse or neglect Psychosocialshort stature Family history Genetic syndrome Skeletal dysplasia. sexual maturation Review of systems Spesific chronic organic disorders Cardiac.1996. Eastman. age of onset of puberty. stimulant Drug-induced growth retardation (Dikutip dari : Hung Wellington.

Best Practice & Research . . Rosen feld RG. Eastman. 2nd.phoshor. Hung Wellington. Cowell CT. Rickets.2002.Philadelphia.London.Calcium. Renal tubular asidosis Hipotiroid Vit D defisiensi. Saunders. Growth and development: normal and variant .Clinical Endocrinology and Metabolism. Mosby. 1996 4. Wales JKH. Vol 16 No.3. Growth Disorders in Holly JM .In Moore WT.ed. Disorders of growth hormone. Rogol AD.alkaline Phosphat Urine rutin dan cultur Anemia Tuberkulosis Gagal ginjal kronik. september 2002 3.Barcelona. Pediatric Endocrinology and growth. Pediatric Endocrinology. Cohen Pinchas..211-288 2. hypophosphatemia Infeksi ginjal GH / IGF-1 axis IGF-1 dan IGFBP-3 Tes stimulasi hormon Defisiensi hormon pertumbuhan Pencitraan Bone survey USG kepala Skeletal dysplasia Adanya defek struktural yang dihubungkan dengan defisiensi hormon pertumbuhan atau defisiensi hormon hipofisis multiple pada bayi CT scan atau MRI Etiologi defisiensi hormon pertumbuhan Daftar Pustaka 1. Wit Jan M. In :Sperling.

Diagnosis Endocrinology.36 BULAN BMI UNTUK ANAK LAKI-LAKI BMI UNTUK ANAK PEREMPUAN DAFTAR PUSTAKA : .M.Sc.1996. M..Satriono. SpA(K) BB / TB ANAK LAKI-LAKI UMUR 00 .52-63 GRTOWTH CHART Bahan Bacaan Kuliah Dr.Sc. 2nd ed.SpA(K) GROWTH CHART Satriono..36 BULAN BB / TB ANAK PEREMPUAN UMUR 00 .Mosby.

Sc.H Tersier -Hipotalamus . T4 = tiroksin T3 = triiodo tironin KLASIFIKASI I.Tiroid 2.H KONGENITAL .H ENDEMIK .H SPORADIK GAKI III.H Sekunder .Obat-obatan 5..Obat-obatan (KJ.Auto immune Disease.Defisiensi Iodium 5.Operasi 2.Hipofisis 3. hipoplasi. Goitrogen) 4.Thyroid HormonE Unresponsiveness 6.Endokrinologi Anak HIPOTIROIDISME Satriono.Defisisensi TSH Penyebab H didapat (Acquired) 1.H JUVENIL Penyebab H Kongenital 1.Defisiensi Iodium 1. HIPOTIROIDISME KONGENITAL HIPOTIRODISME DIDAPAT (ACQUIRED) Istilah KRETINISME? --.H Primer ..Dyshormogenesis 3. . Dr.Tiroidits Limfositik Kronik (HASHIMOTO) 3.dipakai untuk hipotiroidisme kongenital di daerah endemik GAKI II. Maldescent – Kelenjar ektopik 2. .SpA(K) DEFINISI : Defisiensi hormon tiroid.Infeksi 4. M.H ANAK ---.Disgenesis /Atireosis : aplasi.H BAYI ---.

Hipotermi Signs (Gejala Klinik) 1.Hipertelorisme 4.Muka Sembab (a Puffy Face) .Letargi .Hipotoni 10.Ikterus neonatorum Prolongatus 5.Leher Pendek 7.Gondok bisa ada / tidak 13.Makroglosi 5.UUB Lebar 2. kering.Malas menetek (Minum susu) 3. Jantung : Kardiomegali Bising + GAMBAR HIPOTIROIDISME KONGENITAL 1.Hipertelorisme 4.UUB Lebar *) 2.Kulit: tebal.Makroglosi 5.4.Rambut kering 3.mau tidur saja 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. Kuning.Muka Sembab (a Puffy Face) *) Fontanela post terbuka waktu lahirHipotiroidisme Bayi 6.Hernia umbilikaslis 12. Pucat.Obstipasi 2.Suara serak 9.Rambut kering 3. miksedema 8. Distenden Abdomen 11.

Overweight 4.Alkali fosfatase menurun .Dentisi 2. KPR – Lambat (Waktu refleks memanjang) Pemeriksaan DARAH: .Bradikardi 2.Bone Age terlambat Pemeriksaan Bone Age terlambat Pemeriksaan Hormonal Free T4 menurun TSH sensitif meningkat Jaman Dulu : T4 total menurun .Pertumbuhan terlambat .Kulit: Pucat. Dingin.HIPOTIROIDISME ANAK Simtom 1.disgenesis epifisis (Wilkin) . Miksedema 7.Bodoh 5. Karotinemik.Mental .Hiperkolesterolemia X Ray .Fisik .Struma 4.Hb menurun .Pendek Ratio Upper:Lower Segment >Normal 3.Hipotoni – Otot Lembek 8.Miksedema 5.Goiter bisa ada / tidak 6. Tebal.APR .Menometrorhagi (pada anak perempuan pubertas) Signs (Gejala Klinik) 1.Gemuk : Muka sembab 3.Cold Intolerance 6. TSH meningkat .

1 mg L Thyroxin = 60 – 100 Extract Thyroid Contoh: Thyrax (Organon) Euthyrox (Merck) Dosis 5-8 ug/kg BB Diagnosis Banding Down’s Syndrome Anak Pendek: 1.Kondrodistrofi (Akondroplasia) .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.

Turner Syndrome pada anak perempuan Prognosis Bila terapi terlambat / tanpa terapi 1.Sequele Nerologik : .ataksi .inkoordinasi .strabismus .k.2.Mental Retardation 5.Growth Retardation 3.Dwarfism – Hipopituitarisme – Defisiensi Growth Hormone 3.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 .Kematian o. dll Prognosis Qu ad Vitam Bonam Dubia Malam .: .Infeksi 2.spastik .Obstruksi saluran nafas .Maturasi otot terlambat 4.

Terlambat menutup Belakang Kepala datar Gejala Klinik DS MATA . Makassar DOWN’S SYNDROME (DS) 1866 J. Down : Down’s Syndrome Insidens : 1-2 /1000 kelahiran ETIOLOGI : 1959 Le Jeune dkk TRISOMI 21 TRISOMI 21 Trisomi Reguler 95 % Translokasi 4-5 % Mosaik ½-1% 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.Sc.H.PERLU UJI SARING (SCREENING TEST) PADA NEONATUS dipakai TSH Endokrinologi Anak DOWN’S SYNDROME (MONGOLISME) Satriono...M.Dr.L.SpA(K) BIKA FK UNHAS.

Sydney line .VSD ABDOMEN Hernia Umbilikalis Kelainan GI : Megakolon OTOT Hipotoni PELVIS Kecil Dermatoglifik Dermatoglifik DS TANGAN: Simian line.Alis tipis Celah mata miring Epicanthus Katarak Nistagmus Strabismus Hipertelorisme Brusfield’s 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 .

Garis fleksi distal jari V menghilang UJUNG JARI: Lengkung Ulna TELAPAK TANGAN: Sudut atd > 45° (posisi t’.Pola halux kanan 2. t’’.Sudut atd kanan 3.Pola telunjuk kanan 4.PEMERIKSAAN KROMOSOM Diagnostik DS DERMATOGLIFIK SCORE CARD : Walker Beckman (Uppsalla) Reed (Univ.GEJALA YG DPAT DIKUANTIFIKASI: Anthropometrik : BB. LK Upper:lower body segment>N UKURAN PANGGUL DERMATOGLIFIK C. 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.Indiana): 1.Pola telunjuk kiri . TB.

and fat. SpA(K) 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.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. protein. TABLE XXVI-1 Summary of Classification of Diabetes Mellitus in Children andAdolescents* Classification ...Pencegahan DS GENETIC COUNSELLING Tipe translokasi ok – mutasi .Sc. M. It is the most common endocrinemetabolic disorder of childhood and adolescence with important consequences for physical and emotional development. Dr.

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

there is no apparent correlation with socioeconomic status.LaPorte R. Br Med J 295:479. Muscle. Peaks of presentation occur in two age groups: at 5–7 yr of age and at the time of puberty ETIOLOGY AND PATHOGENESIS Figure XXVI–2.) Males and females are almost equally affected. (Adapted from Sperling MA [ed]: Physician's Guide to Insulin-Dependent [Type I] Diabetes Mellitus: Diagnosis and Treatment. and Adipose Tissue* HighPlasma Insulin (Postprandial State) Low Plasma Insulin (Fasted State) Liver: Glucose Uptake Glucose production GlycogenSynthesis Glycogenolysis Absence of Gluconeogenesis Gluconeogenesis Lipogenesis Absence of lipogenesis Absenceofketogenesis Ketogenesis Muscle: Glucose Uptake . Copyright (1988) by the American Diabetes Association. et al: Preventing insulin dependent diabetes mellitus: The environmental challenge. Proposed scheme of natural history of B-cell defect. 1987. Reprinted with permission.) PATHOPHYSIOLOGY TABLE XXVI-2 Influence of Feeding (High Insulin) or of Fasting(Low Insulin) on Some Metabolic Processes in Liver.

results in exaggerated fasting. the calories cannot be utilized. excessive caloric losses continue. Therefore. daily losses of water and glucose may be as much as 5 L and 250 g. of which approximately 50% are derived from carbohydrate.000 calories lost in the urine. weakness. A clue to the existence of polyuria may be the onset of enuresis in a previously toilet-trained child. respectively. despite the child's compensatory increased intake of food and water.000 or more calories. and weight loss. untreated. This represents 1. Diabetes mellitusmay be viewed as a permanent low–insulin state that.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. or 50% of average daily caloric intake. . 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. CLINICAL MANIFESTATIONS. An insidious onset characterized by lethargy. The duration of these symptoms varies but is often less than 1 mo. polydipsia. polyphagia. and weight loss is also quite common. With the development of diabetes. and increasing catabolism and weight loss ensue. The classic presentation of diabetes in children is a history of polyuria.

ketonemia. Leukocytosis is common. and nonspecific serum amylase may be elevated. The early manifestations may be relatively mild and consist of vomiting. Abdominal pain or rigidity may be present and may mimic appendicitis or pancreatitis. and dehydration. hyperglycemia. and there is an odor of acetone on the breath. polyuria. · decreased C-peptide · increased HbA1c . and a careful history will invariably reveal the coexistence of polyuria and polydipsia. They are rarely the sole clinical manifestations of diabetes in children. especially polyuria with polydipsia and failure to gain weight or a loss of weight in spite of a voracious appetite.Pyogenic skin infections and monilial vaginitis in teenage girls are occasionally present at the time of diagnosis of diabetes. Ketaocidosis is responsible for the initial presentation of many (approximately 25%) diabetic children. Cerebral obtundation and ultimately coma ensue. DIAGNOSIS. LABORATORY FINDINGS : glucosuria. In more prolonged and severe cases. Kussmaul respirations are present. 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. and metabolic acidosis. three general categories: (1) those who have a history suggestive of diabetes. (2) those who have a transient or persistent glucosuria. ketonuria. serum lipase is usually not elevated.

and minimize lipodystrophic changes. when clinical and biochemical indices may suggest improvement. and abdomen in a regular sequence. vomiting. the glucose tolerance test is not needed to support the diagnosis TREATMENT. rotating sites on arms.When classic symptoms of polyuria and polydipsia are associated with hyperglycemia and glucosuria. COMPLICATION The major life-threatening complication in children treated for DKA is cerebral edema. "delirious outbursts. An appropriate rotation helps to ensure adequate absorption of insulin. the postacidotic or transition period for establishment of metabolic control. • INSULIN • NUTRITION SUPPORT • EXERCISE • EDUCATION AND COUNSELING INSULIN TREATMENT. and . thighs. The manifestations are those of raised intracranial pressure and include headache. With this rotation and the availability of the purer. single-peak insulins. Depending on their physical and psychologic maturity. prevent fibrosis. and the continuing phase of guidance of the diabetic child and his or her family. cerebral edema develops several hours after the institution of therapy. Injections are given subcutaneously. Clinically. The technique of injection of insulin should be taught to the parents and to the patient when he or she is ready for it. alteration and deterioration in alertness and conscious state. lipoatrophy and lipohypertrophy are quite unusual. diminished responsiveness to painful stimuli. buttocks. The management of insulin-dependent diabetes mellitus may be divided into three phases depending on the initial presentation: that of ketoacidosis. Younger children may find injections in the abdominal wall difficult or painful. 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." bradycardia.

· the nerves (neuropathy). can be lifesaving. waxy skin. Increasingly. growth impairment. may be erroneously attributed to osmotic diuresis secondary to hyperglycemia. The Mauriac syndrome is clearly related to underinsulinization. it is now rare because of the availability of the longer-acting insulins. and prompt therapy with mannitol and hyperventilation. NEUROVASCULAR AND OTHER COMPLICATIONS: RELATION TO GLYCEMIC CONTROL. diabetes mellitus. lens opacities are present in at least 5% of those under 19 yr of age. and maturational delay. · the kidney (nephropathy). osteopenia. · and the lens (cataracts). Another rare syndrome associated with diabetes mellitus is the Wolfram syndrome. Prompt recognition of the condition as it evolves.diminished reflexes. also known as the DIDMOAD syndrome because of its major cardinal manifestations of diabetes insipidus. · the large vessels (atherosclerosis). and a syndrome of limited joint mobility associated with tight. Diabetic nephropathy is also common. The increasingly prolonged survival of the diabetic child is associated with an increasing prevalence of complications that affect the microcirculation of : · the eye (retinopathy). There may be a change in pupillary responsiveness with unequal pupils or fixed dilated pupils. secondary to development of diabetes insipidus. . although diabetes mellitus and diabetes insipidus coexist. optic atrophy. and that in only a minority does it become clinically manifest as a medical emergency. Retinopathy is present in 45–{endash}60% of insulin-dependent diabetics after 20 yr of known disease and in 20% after 10 yr. evidence points to the conclusion that subclinical cerebral edema occurs in the majority of patients treated with fluids and insulin for DKA. it is present in about 40% of patients after 25 yr of insulin-dependent diabetes whose onset occurred in childhood. Polyuria. and deafness. 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). The disease is familial with an autosomal recessive pattern of inheritance.

and other complications were relatively frequent. puberty may be delayed. three patients attempted suicide unsuccessfully. three were several deaths within 10–25 yr of diagnosis: there were directly attributable to diabetes. SpA(K) Struma (goiter. 1 . Visual. In one study of the long-term outcome of 45 children under 12 yr of age at the time of diagnosis. and two were due to suicide. M. 2. fungsi tiroid yang kurang (hipotiroidisme). 3. and the final height may be less than the genetic potential. Gradasi pembesaran kelenjar tiroid pada survey GAKI di Indonesia Derajat O.Struma bisa muncul akibat proses infiltrasi berupa peradangan ataupun neoplasma. Furthermore..2 Struma bisa digolongkan ke dalam : 1.Struma endemik dan sporadik.Seringkali Struma timbul akibat meningkatnya TSH sebagai reaksi terhadap menurunnya hormon tiroid yang bersirkulasi.Struma kongenital dan didapat.gondok) merupakan setiap pembesaran kelenjar tiroid. 2 dan 3.Pada anak yang menderita tirotoksikosis Struma disebabkan oleh thyrotropin receptor .Sc. Anak dengan pembesaran kelenjar tiroid bisa memperlihatkan fungsi tiroid yang normal (eutiroidisme). although diabetic children eventually attain a height within the normal adult range.PROGNOSIS. renal.Struma intratrakeal dan Struma ekstratrakeal PATOFISIOLOGI TERJADINYA STRUMA: 1. Satriono. atau kelebihan produksi hormon tiroid (hipertiroidisme). GRADASI Secara pemeriksaan fisik kelenjar tiroid disebut membesar bila ukurannya lebih besar daripada ruas terakhir ibu jari penderita. 2. GRADASI WHO 0 . Endokrinologi Anak STRUMA PADA ANAK. 1B . neuropathic. 1 A. Dr. 3.. Type I diabetes mellitus is not a benign disease.

SpA(K) GENITAL DISORDERS IN CHILDREN . in whom it may result in a decrease in goiter size.Sc. hal ini menunjukkan ketidak mampuan kelenjar tiroid mengsintesis. (LaFranchi. Patients who are euthyroid can also be treated with T4 in an attempt to reduce the goiter. 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. M. but it is not often effective.. Gambar 1.stimulating antibodies (TRSAb).. (Nelson 16) PENGOBATAN STRUMA SPORADIK T4 treatment is indicated in patients with high serum TSH concentrations. Dr. Tetapi responnya sangat sedikit pada anak yang lebih tua dan tidak sama sekali pada orang dewasa. Penderita ini memerlukan pengobatan dengan T4 . 2001) Endokrinologi Anak KELAINAN GENITALIA PADA ANAK Satriono.

5 ± 0. Rudimentary testes Kallmann. Noonan. Adjustment to the male gender role and sexual satisfaction is possible in some of these patients. and other syndromes. Endokrinologi Anak KELAINAN GENITALIA PADA ANAK . or maternal hormone administrations. If the child is likely to survive the associated anomalies.< 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. Anorchia. or rearing as female.MICROPENIS The length of the normal newborn penis is 3.àdwarfism Anencephaly. with later genital reconstruction. Prader-Willi syndromes. Micropenis ----. Noonan. Etiology Gonadotropin deficiency GH deficiency --. and Kallmann.Micropenis +hypoglycemia Hypopituitarisme. dwarfism. Agenesis of the penis Agenesis of the penis is rare and usually associated with anorectal and renal anomalies. with later genital reconstruction. Treatment Treatment options include a trial of hormonal stimulation (testosteron) .7 cm. pituitary agenesis. Maternal hormone administrations. Prader-Willi. rearing as a female is recommended. pituitary agenesis. Other cases may be due to the presence of rudimentary testes.

Spontaneous testicular descent does not occur after the age of 1 yr. and both conditions usually are referred to as cryptorchidism or hidden testes. and the processus vaginalis is usually patent. retractile testes.Sc. With unilateral undescended testis. the most common being a point lateral to the external inguinal ring. The undescended testis is often histologically normal at birth. SpA(K) GENITAL DISORDERS IN CHILDREN UNDESCENDED TESTES UNDESCENDED AND ECTOPIC TESTES. The consequences of cryptorchidism include infertility in adulthood. Failure to find one or both testes in the scrotum may indicate any of a variety of congenital or acquired conditions. True undescended testes and maldescended or ectopic testes can be differentiated from each other only by surgical exploration.Satriono.4%) and increases with prematurity (to 17% in infants with birthweights between 2.500 g and to 100% in those under 900 g). Surgical correction . but failure of development and atrophy are detectable by the end of the 1st yr of life. The ectopic testis has completed its descent through the inguinal canal but ends up in a subcutaneous location other than the scrotum. below the subcutaneous fascia. The incidence is high in full-term newborns (3. This reflects the fact that testicular descent from the inguinal canal into the scrotum takes place in the 7th mo of gestation. and absent testes.7% of children after 1 yr of age and in adults.000 and 2. ectopic or maldescended testes. Cryptorchidism is bilateral in up to 30% of cases.. and by the end of the 2nd yr the number of germ cells in the affected testis is severely reduced. tumor development in the undescended testes. torsion of the cryptorchid testis. and the possible psychologic effects of an empty scrotum. M.. Dr. the rate of infertility is probably similar to that in the general population. and of those treated in childhood less than one third will be fertile. associated hernias. including true undescended testes. CRYPTORCHIDISM Cryptorchidism is present in 0. The true undescended testis is found along the normal path of descent. Infertility is the rule in adults with untreated bilateral cryptorchidism.

Patients with untreated intra-abdominal cryptorchidism or those who underwent surgical correction during or after puberty are at greatest risk. If the testosterone level rises. differential diagnosis must be made from absent testes by measuring serum testosterone levels before and after stimulation with human chorionic gonadotropin (hCG). orchiopexy of the intra-abdominal testis located immediately inside the internal inguinal ring offers little difficulty. 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. Torsion and infarction of the undescended testis can occur because of excessive mobility of such testes. Two-stage orchidopexy is sometimes needed in high abdominal testes. In the majority of cases. seminomas represent only 30% of tumors occurring in normally descended testes. Although surgical correction of the cryptorchidism may not change the overall risk of malignant transformation. however. but orchiectomy should be considered in the more difficult cases or when the testis appears to be severely atrophied. Carcinoma in situ is occasionally discovered when the testis is biopsied at the time of orchiopexy or during evaluation for infertility later in life. The most common tumor developing in undescended testes is the seminoma (60%). An attempt is made to preserve these gonads for hormonal production after . an abdominal exploration and orchiopexy should be undertaken. in contrast. When the testis is not palpable. its significance is unclear. When testes are not palpable. Most testes located extra-abdominally can be brought down to the scrotum and the associated hernia corrected with an operation (orchiopexy). very few cases of tumors have been reported in patients whose operations were performed before 8 yr of age. 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. preoperative laparoscopy is used to determine its location. A negative response does not rule out the possible existence of intra-abdominal testicular tissue. Treatment of bilateral undescended testes is identical to the treatment of unilateral undescended testis when the testes are palpable.at an early age results in a greater probability of fertility in adulthood. This can often be performed without hospitalization. Indirect inguinal hernias always accompany true undescended testes and are common with ectopic testes. the advisability of using silicone implants has been questioned. The treatment of the unilateral cryptorchid testis is best undertaken early in the 2nd yr of life.

These testes retract into the inguinal canal in response to an exaggerated cremasteric reflex. Some believe that preoperative treatment with hCG facilitates surgery.puberty. The cremasteric reflex is weak or absent at birth. Often more than one examination is required to establish the diagnosis. the fetal testis disappears some time after the differentiation of the internal and external genitalia has occurred. Approximately 20% of nonpalpable testes are absent. the likelihood of preserving fertility is very low. retractile testes should be suspected. the spermatic vessels and the vas deferens end blindly. and scrotal examination is facilitated if the child is in a squatting position. 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. Because this condition is analogous to testicular torsion. More commonly. usually somewhere in the inguinal region or in the scrotum. 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. Retractile testes can be brought down by careful palpation when the child is relaxed in a warm room. and early surgery for the 60% of testes that fail to descend. but it is quite rare and may be associated with some degree of feminization of the internal organs on the ipsilateral side. At exploration. when testes that were palpable at birth become nonpalpable later. ABSENT TESTES. need to be weighed against potential detrimental effects on pubertal penile growth of early exposure of the penile receptors to testosterone. Recent reports on the advantages of hormonal treatment with LH-RH followed by HCG for nonresponders. Consequently. Congenital absence of the testis is possible. Hormonal treatment Hormonal treatment with hCG or luteinizing hormonereleasing hormone (LH-RH) . some authors advocate fixation of the contralateral testis to prevent torsion from occurring in the . RETRACTILE TESTES.

When the adrenogenital syndrome is associated with congenital adrenal hyperplasia. Congenital Adrenal Hyperplasia Deficiency of 21-hydroxylase accounts for 95% of affected patients. M. A 6-yr-old girl with congenital virilizing adrenal hyperplasia.remaining gonad. Dr.. Severe and mild forms of these disorders. SpA(K) Congenital Adrenal Hyperplasia PATHOGENESIS. presumably because of undiagnosed neonatal deaths. have been reported. A. it is caused by a family of autosomal recessive disorders of adrenal steroidogenesis leading to a deficiency of cortisol .. caused by variations in the severity of the genetic mutations. Endokrinologi Anak HIPERPLASIA ADRENAL KONGENITAL. CLINICAL MANIFESTATIONS Most patients with congenital adrenal hyperplasia have the defect in 21-hydroxylation and exhibit the classic form of the disease. In these cases. The deficiency of cortisol results in increased secretion of corticotropin. placement of a testicular prosthesis can be considered as well. Satriono.Sc. which leads in turn to adrenocortical hyperplasia and overproduction of intermediary metabolites. The . with screening 75% of infants are salt losers. without screening 50% of clinically diagnosed infants are salt losers. Figure 529–2.

the bone age was 13 yr. and urinary 17-ketosteroids were 50 mg/24 hr.5 yr. and the urinary 17-ketosteroids were 36 mg/24 hr. liver and renal disease. Notice the clitoral enlargement and labial fusion. Figure 529–3. In Indonesia ? Childhood obesity predisposes to insulin resistance and type 2 diabetes hypertension.5 yr. Infants A and B were salt losers and were diagnosed in early infancy. Notice the completely penile urethra. Infant C was referred at 1 yr of age because of bilateral cryptorchidism. and each had normal female sex-chromosome complement. B. PENYAKIT METABOLIK pada ANAK OBESITAS HIPERLIPIDEMIA OBESITY Background Obesity is the most prevalent nutritional disorder among children and adolescents in the United States.height age was 8. Three female pseudohemaphrodites with untreated congenital adrenal hyperplasia. All were erroneously assigned male sex at birth. C. . Five-yr-old brother of girl in A was not considered to be abnormal by the parents. the bone age was 12. hyperlipidemia. The height age was 8 yr. most of these infants are salt losers. such complete degrees of masculinization in females with adrenal hyperplasia are rare. and reproductive dysfunction.

weights exceed those expected for heights Consensus committees have recommended that children and adolescents be considered overweight or obese if the BMI exceeds the 85th or 95th percentiles or exceeds 30 kg/m2 at any age. Reductions in energy expenditure Increases in energy intake During childhood and adolescence. hypertension. . A number of orthopedic disorders. Increases in energy intake are observed in genetic syndromes. including hypothyroidism and growth hormone deficiency. cholecystitis. 50% morbidly obese 80-100%. Pathophysiology During childhood and adolescence. such as Prader-Willi syndrome. hyperlipidemia. Reductions in energy expenditure characterize other hormonal deficiency states. excess fat accumulates when total energy intake exceeds total energy expenditure. and pseudotumor cerebri. Fatty liver is common. Cushing syndrome.risk of adult obesity and cardiovascular disease. Operational definitions of obesity in adults are derived from statistical data analyzing the overweight. ovarian hyperandrogenism and gynecomastia. and drug-induced obesity. pancreatitis. 20% obese. Emotional and psychosocial sequelae are widespread. accelerated growth and bone maturation. excess fat accumulates when total energy intake exceeds total energy expenditure. Acute complications of childhood obesity include type 2 diabetes.

Genetic syndromes associated with childhood obesity include the following: Prader-Willi syndrome Pseudohypoparathyroidism Laurence-Moon-Biedl (Bardet-Biedl) syndrome Cohen syndrome Down syndrome Turner syndrome Hormonal disorders associated with childhood obesity include the following: Growth hormone deficiency Growth hormone resistance Hypothyroidism Leptin deficiency or resistance to leptin action Glucocorticoid excess (Cushing syndrome) Precocious puberty . A hallmark of insulin resistance is acanthosis nigricans. indicate that adolescent obesity is associated with increased morbidity and mortality in later life. completed less schooling. Psychosocial dysfunction in individuals who have obesity in childhood and adolescence is a serious concern. The dramatic increase in the prevalence of type 2 diabetes among adolescents with obesity is likely to be accompanied by a host of diabetic-related complications in adulthood and a reduction in life span. household poverty Causes Genetic syndromes . hypertriglyceridemia. including hyperinsulinism and insulin resistance. hypercholesterolemia. with its attendant long-term health risks.Obesity during childhood and adolescence is associated with a number of cardiovascular risk factors. reduced levels of HDL. although limited. The epidemiological data. Hormonal disorders . the presence of which indicates an increased risk of type 2 diabetes. Long-term complications Obesity during childhood and adolescence is associated with an increased risk of obesity during adulthood. less likely to have married. and hypertension.

when clinically indicated Sleep studies to detect sleep apnea TREATMENT Medical Care Exercise and physical activity Nutritional counseling and reduced fat diet Treatment of the psychiatric conditions Very controlled–energy diets Surgical Care Medical/Legal Pitfalls Failure to identify a genetic or hormonal disorder in a child with obesity Overaggressive or inappropriate use of anorectic medications SECONDARY HYPERLIPIDEMIA Much of the hypertriglyceridemia and. when indicated Serum calcium. and parathyroid hormone levels to evaluate for suspected pseudohypoparathyroidism Imaging Studies MRI of the brain with focus on the hypothalamus and pituitary. for example. . and the hypertriglyceridemia is frequently normalized following a return to desirable weight. is probably the major cause of mild elevations of plasma triglycerides. hypercholesterolemia seen in clinical practice is secondary to exogenous factors or underlying clinical disorders. to a smaller extent. phosphorus.PCOS Prolactin-secreting tumors Lab Studies Fasting and 2-hour postglucola glucose and insulin levels and hemoglobin A1c (for evaluation of insulin resistance and glucose tolerance) Fasting lipid panel for detection of dyslipidemia Thyroid function tests Serum leptin Adrenal function tests Karyotype Growth hormone (GH) secretion and function tests. Obesity.

and systemic lupus erythematosus. The Step I diet followed by the Step II diet. Tay-Sachs disease. is recommended for FH patients and may produce a significant reduction (by as much as 15%) in LDL cholesterol but will rarely return the LDL cholesterol level to normal. Other drugs that raise triglyceride levels are 13-cis-retinoic acid (isotretinoin or Accutane). consideration must be given to the possibility that the patient has an underlying primary form of hyperlipoproteinemia. and some b{beta}-adrenergic blocking agents.Weight loss may also reduce cholesterol levels in the overweight Pediatric conditions associated with hyperlipidemia include: hypothyroidism. Excessive alcohol intake is a well-known cause of hypertriglyceridemia in adults and should be considered in teenagers. Treatment Treatment of the underlying condition or removal of the offending drug is usually the first approach to management of the patient with secondary hyperlipidemia. Niemann-Pick disease). renal failure. nephrotic syndrome. If the elevated lipid level persists. FAMILIAL HYPERLIPDEMIA (FH) The diagnosis of FH is supported by a strong family history of early myocardial infarctions. however. anorexia nervosa.. thiazide diuretics. glycogen storage disease. with varying effects on LDL and HDL cholesterol levels. if needed. diabetes mellitus. tendon xanthomas. and total plasma cholesterol levels >300 mg/dL in affected adults.g. Affected children usually have total cholesterol levels >250 mg/dL. hepatitis. and therapy appropriate to that condition should be initiated. Drug : cholestyramine . other causes of cholestasis. storage diseases (e. Oral contraceptives generally increase triglyceride levels. such as congenital biliary atresia. Arcus cornea Treatment by weight control has relatively little impact on the plasma cholesterol level in heterozygous FH. and occasionally other endocrine and metabolic disorders. with LDL cholesterol >200 mg/dL.