ADITIAWATI
Pediatric Endocrinology
FK Unsri-RSMH Palembang
2023
Out line
• Normal Growth and puberty
• Growth Monitoring
• I-C-P Model (Karlberg)
• Growth Disorder
• The importance of puberty
• Other variants of puberty: normal variants?
• Pubertal Disorder
GROWTH ASSESSMENT &
GROWTH DISORDERS
PERTUMBUHAN
▪ Proses fisiologi yang khas pada anak
▪ Salah satu indikator sensitif untuk
melihat kondisi kesehatan dan
kesejahteraan anak
▪ Proses yang dinamis dengan banyak
faktor yang saling berpengaruh yang
ikut menentukan laju pertumbuhan
dari waktu ke waktu serta pencapaian
tinggi
FAKTOR PERTUMBUHAN
Intra Uterine (Pre-natal)
1. Faktor Ibu
2. Faktor Placenta
3. Faktor Genetik
Extra Uterine (Post-natal)
1. Heredo-constitusional, Faktor GENETIK
Ras, congenital anomaly, syndrome
2. Faktor LINGKUNGAN
Nutrisi, Emosi lingkungan, exercise,
Penyakit, socio ekonomi
3. Fungsi ENDOKRIN
GH,Cortisol,Thyroid,insulin,sex
hormon
FAKTOR PERTUMBUHAN
HORMON
TETAP
PERHATIKAN
UNSUR INI
PERTUMBUHAN
hiperplasia LINGKUNGAN
GENETIK
hipertropi PSIKO-SOSIAL
deposisi matriks
NUTRISI
2. NUTRISI
1. PENY
GENETIK KRONIS
Kekurangan Nutrisi
POTENSI TINGGI Kronik
SINDROM
GENETIK
(PTG & -MPH) Penyakit Kronik
Body height/ stature
STUNTING
Body weight
Growth Chart
POTENSI TINGGI GENETIK (PTG/GPH)
195
190
185 PGH
180
170
8,5 cm 160
2 155
150
Height 140
(cm) 135
(father’s height -13) + mother’s height ± 8,5 130
cm 125
2 120
115
110
105
100
95
85
( target Height) 80
2 4 6 8 10 12 14 16 18
Age (years)
3.
HORMON
4. LINGKUNGAN
GH,Thyroxin, Insulin,
cortisol, sex steroid, PSYCHOSOSIAL
IGF-growth factors)
Integritation of hormone systems
THE ROLE
OF
HORMONES
2. LAJU PERTUMBUHAN
1. PERAWAKAN (Velocity)
Indikator : TB-BB-BMI-LK-LL Pada periode waktu
Konsep Statistik-Kurva ICP model
Pada satu waktu ( INFANT-CHILD-PUBRTY)
PARAMETER
PERTUMBUHAN
3. PROPORSI TUBUH
4. UMUR TULANG
Ratio segmen atas-segmen
( bone age)
bawah
Titik titik pertumbuhan
RATIO TB –RENTANG LENGAN
Umur biologis
DISMORFIK
1.“PENGUKURAN TUNGGAL TINGGI BADAN”
Hanya akan identifikasi tinggi badan (
perawakan)
o Perawakan pendek atau perawakan tinggi
o Perawakan normal
Tidak bisa mengidenfikasi proses pertumbuhan
o Anak dengan pertumbuhan melambat (misal
:GHD, hipothiroid congenital)
o Turner Syndrome
o Acquired disorder : hypothyroidsm, coeliac disease
o Pertumbuhan yg memotong kurva garis persentil
“Pengukuran Periodik tinggi badan”
→Bisa melihat POLA LAJU PERTUMBUHAN
•Kanalisasi
•“crossing the centiles”
•Identifikasi kecepatan pertumbuhan (misal
:GH-Thyroid defisiency)
•Pertumbuhan normal
→ Perlunya MONITORING !!!
2. LAJU PERTUMBUHAN
( Model I-C-P dari Karlberg )
P
P
C
I
FASE PUBERTAS-PUBERTY
*Growth spurt / akselerasi pertumbuhan
*Tergantung pada kerja hormon seks dan GH
*Deselerasi dan berhentinya pertumbuhan
Fase bayi –> Kanalisasi → PTG
• Catch-Up → mengejar
• Catch down → PTG
Constitutional Delay
Perawakan pendek
idiopatik
KMK ( SGA)
Fase Pubertas
GROWTH
SPURT
( SEX HORMON
& GROWTH
HORMON)
Sekuens pubertas
Juli 2008
©UKK Endokrinologi Anak & Remaja
Kecepatan
Usia pertumbuhan
(cm/tahun) Fase pertumbuhan
Fase bayi
0-12 bulan 23-27 cm
12 – 24 bulan 10-14 cm 15%
2 - 3 tahun 8 cm
Fase anak
3 - 5 tahun 7 cm
5 tahun – 5-6 cm
menjelang
pubertas
Fase perempuan: 8-12 cm 15%
lelaki: 10-14 cm 40%
Pubertas
Untuk tetap b erada pada jalur
yang sama s elama masa
pertumbuhan →kecepatan
tumbuh ≥ persentil 25
Fase bayi
( Lahir -3 tahun ) Fase Anak Fase Puber
Periode Emas
Pertumbuhan Pertumbuhan 8-12 cm
6 bln 1 : 15-16 cm
Tahun 1 : 23-27 cm
konstan 5-7 cm Laki : +20-24 cm
Tahun 2 : 10- 12 cm (< 4 CM : Wanita : +17-20 cm
Tahun 3 : 6-8 cm ABNORMAL )
Hormon Sex
Nutrisi Hormon Pertumbuhan Hormon Pertumbuhan
Hormon tiroid Hormon Tiroid Hormon Tiroid
Hormon pertumbuhan
3. PROPORSI TUBUH
DISMORFIK ?
Arm Span
• Rentang Lengan
Height=Arm Span ± 3½cm
TB=RL± 3½cm
•• Tinggi Duduk → Rasio
Tinggi Duduk → Rasio
Segmen
Segmen Atas/Bawah
Atas/Bawah
Lahir
Lahir: US/LS = 1.70
: US/LS (tertinggi)
= 1.70 (tertinggi)
Postpuberty: US/LS= 0.89 - 0.95
Pasca pubertas: US/LS= 0.89 - 0.95
Short stature*
Detailed medical history and physical examination
Pertumbuhan Normal
•Titik-titik pertumbuhan memberikan
garis yang paralel dengan kurva
pertumbuhan. Artinya tidak ada
pemotongan lajur kurva pertumbuhan
Pertumbuhan Abnormal
A B
Tips &Trik
Usahakan selalu
mengukur TB-BB
secara periodik
dan catat-plot di
kurva
Yang mana yang bermasalah ?
14-15 Maret 2007
Siapa yang pendek?
©UK Endokrinologi Anak & Remaja
IDAI Jaya
Perawakan
Pendek
• Definisi Statistik
– Normal = -2SD s/d +2SD
– Perawakan pendek=< -2SD
– Perawakan tinggi= >+2SD
• Usia
• Jenis Kelamin
• Suku/Ras
Juli 2008
©UKK Endokrinologi Anak & Remaja
Definisi Pendek
(Standart Vs referensi)
Increasing
pathology
Height for age (cm)
–4 –3 –2 – 1 2 3
1 0 SD from the
mean
4
Perawakan Pendek
Analisis
Perlukah
dirujuk ??
Varian Atau
normal atau observasi ??
Benarkah patologis?
pendek?
MODEL : I-C-P
1. Kecepatan tumbuh
2. Proporsi tubuh
Data
antropometri
Rasio
3. Potensi Tinggi Genetik
sebelumnya
segmen atas/
Monitor bawah
Data TB
orangtua 4. Dismorfik
Rentang
lengan
5. Usia Tulang
Data riwayat
pubertas
orang tua
Data tambahan
Pengukuran & BB lahir (KMK ?)
referensi BENAR
Apakah dia pendek?
Apakah dia stunting?
Potensi tinggi genetik/ mid-
parental height
Potensi tinggi genetik/ mid-
parental height
Bagaimana laju
pertumbuhannya ?
Klasifikasi perawakan pendek
Variasi normal Patologis
▪ Familial short stature ▪ BB/TB kurang
▪ Malnutrisi
▪ Constitutional delay of ▪ Penyakit kronis
growth and puberty ▪ BB/TB meningkat
▪ GH deficiency
▪ Hipotiroid
▪ Kelebihan hormon
glukokortikoid
▪ Disproportionate
▪ Skeletal dysplasia
▪ Dismorfik
▪ Sindrom Prader Willi, Silver
SGA NO CATCH Russel, Cornelia de Lange
UP GROWTH
PERAWAKAN PENDEK
Varian Normal Perawakan pendek Perawakan Perawakan
perawakan primer / instrinsik pendek sekunder pendek idiopatik
pendek /extrinsik
GENETIK/FAMILI • Sindrom Penyakit / Tidak dijumpai
AL kelainan kelainan
• Kelainan
CONSTITUTIONA chromosom sistemik
L DELAY OF Malnutrisi
GROWTH & • IUGR, kelainan
PUBERTY (CDGP) endokrin
• Skeletal Metabolik
dysplasia/os
teochondrop disorder
lasia Iatrogenic
(Terapi steroid,
• Storage radiasi)
disorders Psychososial
(jarang) atau emotional
CAUSES OF SHORT STATURE “IS NICE”
I ‐ Idiopathic (Most common, constitutional delay,
familial short stature)
‐ Intrauterine (IUGR, TORCH, Fetal alcohol)
S ‐ Skeletal causes (dysplasia, osteogenesis imperfecta)
‐ Spinal defects (scoliosis, kyphosis)
N ‐ Nutritional (under nutrition)
‐ Nurturing (deprivation)
I ‐ Iatrogenic (steroids, radiation)
C ‐ Chronic disease
‐ Chromosomal (Turner, Down’s)
E‐ Endocrine (GH deficiency, hypothyroidism, cortisol >)
Juli 2008
©UKK Endokrinologi Anak & Remaja
Allen and Cuttler, NEJM 2013
PENDEK-
KURUS
LAJU Umur
PENDEK
TAPI TIDAK
PERTUMBUHAN tulang??
??
KURUS
CDGP
Familial SS
Masalah endokrin:
Delay bone age:
▪ Hipotiroid
▪ Defisiensi growth hormone
▪ Multiple pituitary hormone deficiency
▪ Delayed puberty
▪ Kelebihan kortisol (mungkin juga
tidak delay)
Advanced bone age:
▪ Pubertas prekoks
▪ CAH
Familial Short Stature
• MPH < 3rd percentile for
reference population
• CA=BA>HA
Postnatal overgrowth
• Familial (constitutional) tall stature
Foetal overgrowth • Exogenous obesity
•Maternal diabetes mellitus • Hypogonadism
•Cerebral gigantism • Excess GH secretion
•Beckwith‐Wiedemann syndrome • Marfan syndrome
• Fragile X syndrome
Childhood tall stature with adult • Homocystinuria
short stature • Klinefelter syndrome =XYY
•Hyperthyroidism
•Precocious puberty
APPROACH TO CHILD WITH TALL STATURE
Syndroma
???
57
MANAGEMENT OF TALL STATURE
• Reassurance of the family and the patient in constitutional
tall stature. May be oestrogen if expected final height > 3SD
Pediatric Endocrinology
58
Kesimpulan
◆Kecepatan Pertumbuhan merupakan kunci utama ada
tidaknya gangguan pertumbuhan→ MONITORING/
PEMANTAUAN PERTUMBUHAN !!! → memberi
gambaran proses pertumbuhan → deteksi dini untuk
mencapai potensi tinggi genetik optimal
◆Pengukuran Antropometri mengarahkan ke diagnosis
◆Seorang anak tidak berpindah jalur pada fase anak
◆Perawakan pendek tidak selalu identik dengan gangguan
pertumbuhan dan tidak selalu terkait nutrisi
◆Hormon thyroid, Hormon pertumbuhan ,Sex Hormon,
Nutrisi berperan untuk pertumbuhan
Investigate
immediately
97th
Investigate
immediately
50th
PUBERTY
• normal variants ? Pathology ?
• How to recognize ?
HORMONAL
GROWTH LH, FSH, SEX STEROID
Transition period HORMONE DHEAS
between childhood to
adult
PHYSICAL
Maturation of REPRODUCTIVE ORGAN
GROWTH SPURT
SECONDARY SEX
reproductive organs and
attainment of fertility
Termination of linear MATURE
growth FINAL HEIGHT FERTILITY
Through Estrogen
Onset :
▪ Female : 8 -13 years old
▪ Male : 9-14 years
BASIC CHANGE
▪ Neuroendocrine : Gonadotropin, sex steroid and GH
▪ Biological/Physical : Linear growth, body composition,
Reproductive organs
▪ Physiology
▪ Morfology
▪ Behaviour
Puberty is a complex
developmental
process that ends in
▪ 8-13 YEARS FOR GIRLS
sexual maturity
▪ 9-14 YEARS FOR BOYS
THE ONSET OF PUBERTY
▪ the development of
PRIMARY SEX characteristics
▪ Appearance of SECONDARY
SEX characteristics
Characterized by maturation ▪ Acceleration of growth →
of the hypothalamic- GROWTH SPURT
pituitary-gonadal axis ▪ Capacity for FERTILIZATION
Pattern of gonadotropin secretin
Mini Puberty
End Feminisation
Organ Direct effect on growth plate
& Indirect action by Virilisation
stimulation of GH
2. PUBARCHE 2. PUBARCHE
6-12 month later 6-12 month later
Stage
2
Stage
3
Stage
4
Stage 5
Female: MALE
▪ Rapid growth
Tanner ▪ Acceleration and
3 Growth Spurt deceleration of growth
velocity
Tanner ▪ Female : 8.5 cm/year (
2
total 20-25 cm)
▪ Male : 9.5 cm/year ( total
25-30 cm)
Puberty
▪ Sex steroid & Growth
Hormone
What are the importance of
puberty?
BONE PSYCHOLOGICAL
FERTILITY HEIGHT HEALTH DEVELOPMENT
QUALITY OF LIFE
WHY DOES
PUBERTY
ARoot AWJ, et al. Sperling’s Pediatric endocrinology, 2014
IMPORTANT ???
BONE HEALTH
IUGR Secule
r trend
1
3
ENVIRONMENTAL
2
2
ENVIRONMENTAL
Elona Krasniqi, The role of puberty in adolescent development, KrasniqiCakirpaloglu2020, page 2-11
Factors controlling the timing of puberty
RAS
PSYCO-
NUTRISI
SOCIAL
AWITAN
PUBERTAS
PENY.
EXERCISE
KRONIS
Interpretation of reproductive hormones before, during
and after the pubertal transition →
Identifying health and disordered puberty
Fetal Post
Mini Early- Mid Puberty Puberty
Period
Puberty Childhood
Delayed
GnRH
secretion Absent Partial
GnRH Precox
Absent
3. ARRESTED PUBERTY :
Normal onset of puberty
Females → interrupted (STOP)
(Telarche)
4. Amenorrhoe
8 13 primer/secunder
NORMAL PUBERTY
8 9 10 11 12 13 14 15 16
1. 2.
PUBERTY
9 10 11 12 13 14 DELAYED
15 16
Premature Premature
Gynaecomasia
Telarche ? Adrenarche
▪ Fisiologys
▪ Patologis
▪ Varian Normal
▪ Adrenal
▪ Precox
Puberty disorder
1. Male,22 years old, Body Height
172 cm 2. Girl, 7 years old,
G1P1 ( pre puberty) M4-P3
◆ Menstruation +
◆ Breast : from age of 4 years
◆ Insecure child, Shy, often cry
◆Problem :
◆Medical aspect ◆ Problem :
◆Psikology aspect ◆ Medical aspect
◆Social Aspect ◆ Sosial aspect
◆ Psikology aspect
◆ Labile Emosion
◆ Short Stature
3. Girl, 15 years old 4. Girl, 16 years old
Height 124 cm 158 cm, 45 kg
M1-P1-amenoorhoe M2P2- amenoorhoe primer
Retarded bone age
Osteoporosis
◆Medical aspect
▪Short stature ◆ Sosial aspect
▪What about the future? ◆Psikology aspect
▪Infertility ? ◆Labile Emosion
6. “Girl” , 13 years, 153 cm
M1P2, “amenorhoe ’
Inferior, confused
Bullying
Worried
→ Sex Chromosom XY
5. Girl, 9 years old
M1P3
•Precocious
Pseudopuberty
•Clitoromegaly How to identify
•Short stature →assessment gender ?
Dx : CAH
Puberty Aspect :
Psikologys, Social, Medical,
Osteoorosis, short stature, fertility,
gender
PUBERTAL DISORDER
Primary Secunder
Normal onset CDGP
of puberty —>
Central interrupted 3 months of
(STOP) amenorrhea
Pubertas Precox
( GnRH after the
Dependent) 1. No menstruation by the achievement
age of 15 year or of menarche
2. No menstruation by > 3
Perifer years after the onset of
Pubertas
puberty
Precox Hypergonadotropic
( GnRH Hypogonadotropik Hypogonadism
Inependent) Hypogonadism
What are the importance of
puberty?
FERTILITY HEIGHT
BONE
HEALTH
PSYCHOLOGICAL
DEVELOPMENT
Risk of fractures
?
Growth
Failure and future
Short Stature osteoporosis
QUALITY OF LIFE
ARoot AWJ, et al. Sperling’s Pediatric
endocrinology, 2014
Biological Factor:
Psychological : Social Factors :
- Temprament - Traumatic life events
HPA-Axis - Personality -Academic failure, social
Hypothalamic limbic - emotional difficulty
system Physical changes Will I have normal -Bullying & conflict with
→ sexual function? peers
affect their appearance Can I grow taller ? - Abusive parents
Be aware of the
development of Psychological
puberty in children problems &
and adolescents
Psychiatric disorders
Pulau
Garis Terluar
Titik O
Titik O- Khatulistiwa Selatan MERAU
SABANG PONTIANAK P. NDANA KE
Short stature
Growth velocity
Normal Abnormal
short Rickets
Endocrine: Syndromes:
stature GHD Malnutrition Prader Willi
Hypothyroid Chronic diseases Russel
Cushing Psychological Silver
Noonan etc
Pseudohypopa
rathyroid
Batubara JRL.Pertumbuhan Normal dan Gangguan Pertumbuhan Buku Ajar Endokrinologi Anak.Edisi kedua;
2017:18-49.
BODY PROPORTIONS
95
IMPLICATIONS OF PUBERTAL ASSESSMENT IN
SHORT STATURE
Normal Delayed
• CDGP
• Familial short
stature ( FSS) • Endocrine causes
96 1
8