History

Key data to obtain for the evaluation of short stature include the child's weight and length at
birth; prior growth pattern; and the final (or current) heights and weights of parents, siblings, and
grandparents.
Whenever possible, obtain the original birth records to document length, weight, and
fronto-occipital circumference at birth.
Assessing the heights of both parents is absolutely essential.
Generally, men overreport their height, and women underreport their weight.
Ideally, measure each parents height in the clinic for optimal calculation of the mid-
parental target height, according to one of several formulas, among which the author
prefers the following:
Target height in cm for a girl = [mother's height in cm + (father's height in cm - 13)]/2
Target height in cm for a boy = [(mother's height in cm + 13) + father's height in cm)]/2
Document pubertal timing in first-degree relatives.
At a minimum, determine the age at onset of menarche for the child's mother and the age
of adult height attainment for the father.
Most parents can usually recall these 2 milestones, which have proven reliable predictors
of pubertal timing and tempo in parent-child pair studies of puberty.
Review of symptoms by organ system provides additional clues to the etiology underlying short
stature.
GI
o Diarrhea, flatulence, or borborygmi (frequent, discomforting, or even audible
peristalsis) suggest malabsorption.
o Vomiting can suggest an eating disorder or a CNS disorder (eg, dysgerminoma).
o Consider dietary intake and composition. In particular, ask about intake of
carbonated beverages, juices, and other casual intake.
o Pain or abdominal discomfort suggests inflammatory bowel diseases.
Cardiac disease: Signs include peripheral edema, murmurs, and cyanosis.
Chronic infections: Poor wound healing and opportunistic infections are signs of
potential immune deficiency.
Pulmonary
o Sleep apnea can be a cryptic cause of short stature.
o Other chronic diseases that may result in short stature include severe asthma
associated with chronic steroid use and cystic fibrosis (CF).
Neurologic
o Visual field deficits often herald pituitary neoplasms.
o Vomiting, early morning nausea, polyuria, or polydipsia is often associated with
masses of the CNS.
Renal
o Polyuria and polydipsia are important symptoms of hypothalamic and pituitary
disorders.
o Chronic renal disease is a common cause of growth failure (GF).
Social
o Participation in sports that require weight control (eg, wrestling, crew,
gymnastics) may be associated with anorexia nervosa or bulimia induced by the
patient, peers, or coaches.
o Growth is often impaired in refugees and in children emerging from foster care or
certain international adoption settings.
o The growth pattern with adequate nutrition in a loving environment over time is
critical to distinguish pathologic GF from normal variant short stature in such
patients.
Pathophysiology
Short stature may be normal. Obtaining the family history of growth patterns and direct
measurement of the parents is crucial to determine the genetic potential for growth in the child.
Short stature can also be the sign of a wide variety of pathologic conditions or inherited disorders
when it results from GF or premature closure of the epiphysial growth plates. Therefore,
pathophysiology depends on the underlying cause. For detailed discussions of the disorders
included in the differential diagnoses of short stature, see Differentials.
Physical
Endocrinologists rely heavily on accurate and reliable height assessment.
Measure standing height in triplicate using a calibrated wall-mounted stadiometer.
o Although no particular brand is endorsed, one well-accepted device is available
from Harpenden Ltd of Wales (see image below).Proper use of a wall-mounted
stadiometer.
o In infants, length is determined in triplicate using a tabletop recumbent
stadiometer.
o The mean value of the triplicate data serves as the true measurement.
In children who cannot completely stand or recline (eg, those with spina bifida, those
with contractures), arm span provides a reliable alternative for longitudinal assessment of
long bone growth.
o Ascertain arm span by facing the child against a flat firm surface (usually the
wall), fully extending the arms, and measuring the maximal distance between the
tips of the middle fingers.
o If this positioning is physically impossible, a flexible tape measure may be rolled
along the dorsal aspect of the arms and upper back to determine arm span.
Documenting growth velocity over time complements the initial height assessment.
o Calculate growth velocity as the change in standing height over at least 6 months
(in children) or in length over at least 4 months (in infants).
o Poor linear growth is defined as linear growth velocity more than 2 SDs below the
mean for gender, genetic composition, and chronologic age.
Weigh all patients.
In infants, determine the fronto-occipital circumference.
In patients in whom short-limb dwarfism is suspected, the sitting height can be obtained
by measuring the upper body segment, or crown to pelvis, as the child sits upright on a
platform-mounted stadiometer (or on the floor with a wall-mounted stadiometer).
o Alternatively, the lower segment can be determined by measuring from the
superior midline brim of the symphysis pubis to the floor, with the child standing
(feet placed together).
o The upper-to-lower segment ratio (US/LS) should be close to 1.
o The ratio is more than 1 in children with shortened limbs, as it is in individuals
with hypochondroplasia or achondroplasia.
Palpate for thyroid enlargement and firmness, which can be associated with Hashimoto
thyroiditis, the most common cause of acquired hypothyroidism.
Test visual fields for signs of pituitary and hypothalamic tumors, initially by gross
confrontation.
Inspect fourth metacarpals, which are shortened in persons with
pseudohypoparathyroidism, Ullrich-Turner syndrome, and Albright hereditary
osteodystrophy.
Inspect mucous membranes for ulcerative stomatitis, typical of Crohn disease and various
trace mineral and vitamin deficiencies.
o Pretibial ulcerations are also observed in persons with Crohn disease and
ulcerative colitis.
o Rectal tags and clubbing are also typical in individuals with Crohn disease.
Confirm the history with direct measurements whenever possible. For example, measure
both biologic parents' heights during the clinic visit.
Both the arm span and US/LS ratio can be informative regarding the cause of short
stature. Patients with short-limb dwarfism usually have an US/LS ratio that remains
above 1.3. Newborns typically display a ratio of 1.7, which gradually drops to
approximately 1 during prepubertal growth and remains close to 1 in adulthood.
Arm span also reveals a decrement in growth, which is otherwise indiscernible in a child
with spinal deformation (eg, myelomeningocele).
Carefully examine the midface.
o A single, central, maxillary incisor reflects a defect in midline facial development.
o Similarly, a bifid uvula suggests the possibility of a submandibular cleft palate,
which may be palpable, yet not visible on inspection.
o Associated anomalies of midline structures, such as the pituitary gland, are
common in patients with major midline facial anomalies.
o Growth hormone deficiency (GHD) or panhypopituitarism should be considered
as a cause of short stature in such patients.
Causes
The nonendocrine causes of short stature (see Other Problems to be Considered) can be divided
into 3 major categories, as follows:
Constitutional delay of growth and sexual development
Familial short stature
Chronic diseases of childhood: Among the chronic conditions, malnutrition remains the
leading cause of short stature worldwide.
Genetic causes of short stature are as follows:
Down syndrome (trisomy 21)
Ullrich-Turner syndrome (45,XO)
Ler-Weill dyschondrosteosis (SHOX gene)

GEJALA KLINIK/symptom
Berat badan dan panjang badan lahir bisa normal, atau BBLR (Berat Bayi Lahir Rendah)
pada keterlambatan tumbuh intra uterine, umumnya tumbuh kejarnya tidak sempurna.
Pertumbuhan melambat, batas bawah kecepatan tumbuh adalah 5 cm/tahun desimal.
Pada kecepatan tumbuh tinggi badan < 4 cm/tahun kemungkinan ada kelainan hormonal.
Umur tulang (Bone age) bisa normal atau terlambat untuk umurnya.
Tanda-tanda pubertas terlambat (payudara, menarche, rambut pubis, rambut ketiak,
panjangnya penis dan volume testis).
Wajah tampak lebih muda dari umurnya.
Pertumbuhan gigi yang terlambat.
Pada gangguan psikososial : polidipsia, poliuria, kebiasaan makan abnormal, dari tempat
sampah, sering muntah. Mencuri makanan, makan tanah, makan dari WC.
Buang air besar/kecil dicelana, terlambat bicara, tempertantrum, insensitif terhadap nyeri,
dan berjalan dalam tidur (night wandering).
Keadaan keluarga/rumah kacau karena kurang pengetahuan maka terjadi kegoncangan
psikososial didalam keluarga.Yang dirisaukan adalah masalah keturunan.

CARA PEMERIKSAAN/DIAGNOSIS
1. Anamnesis
Antenatal, Natal dan Postnatal, adanya keterlambatan pertumbuhan dan maturasi dalam
keluarga (pendek, menarche), penyakit infeksi kongenital, KMK (Kecil Masa Kehamilan),
penyakit kronis pada organ-organ (saluran cerna, kardiovaskuler, organ pernafasan dan
ginjal).
2. Pemeriksaan
a. Pengukuran anthropometri (TB, BB, Lingkaran Kepala, Lingkaran dada, panjang
lengan, panjang kaki).
b. Plot TB dan BB pada kurva pertumbuhan NCHS, dinilai menurut persentil yang sesuai.
c. Ukur TB dan BB ayah, ibu dan saudara-saudaranya.
d. Menghitung kecepatan tumbuh tinggi badan (growth velocity) pada pengukuran ulang
sedikitnya 3 bulan setelah pengukuran pertama.
e. Kelainan kongenital, kelainan saluran cerna, paru, kardiovaskuler, leher (webbed
neck) kelenjar tyroid, pertumbuhan gigi.
f. Tanda-tanda pubertas menggunakan pedoman (standard) dari Tanner.
g. Mata : Funduskopi, Lapang pandang (visual field)
h. X-Ray : - Bone Age (umur tulang)
- Tengkorak kepala/Sella Tursica.
- Bila perlu CT scan atau MRI
i. Laboratorium : Darah lengkap rutin, serologic urea dan elektrolit, calcium, fosfatase
dan alkali fosfatase, T4 dan TSH, GH (growth Hormone) atas indikasi.
j. Analisa khromosom.
k. Endoskopi/Biopsi usus
l. Pemeriksaan psikologik/psikiatrik.

DIFFERENSIAL DIAGNOSIS/KAUSA
I. Keterlambatan konstitusional (Constitutional Delay) :
- Perlambatan pertumbuhan linier pada 3 tahun pertama
- Maturasi fisik terlambat dibandingkan kelompok umur yang sama
- Bone age sesuai dengan umur tingginya
- Tinggi badan maksimalnya normal.

II. Keluarga Pendek (familial) disebut juga sebagai variasi normal :
- Pemeriksaan fisik normal.
- Kecepatan tumbuh > 4 Cm/tahun, sekitar P
25.
(masih dalam rentang potensi genetik)
- Bone age sesuai umur khronologis
- Maturasi pubertas normal.
III. Sindrom Turner :
- Didapatkan tanpa gejala yang klasik pada 60% kasus.
- Leher pendek (webbed neck), jarak papilla mammae lebar, maturasi seks terlambat.
- Setelah usia 9-10 tahun, FSH dan LH menunjukkan kegagalan ovarium.
- Karyotyping untuk menetapkan diagnosa.
IV. Defisiensi Hormon Pertumbuhan (Growth Hormone Deficiency)
- Kecepatan tumbuh < 4 Cm/tahun
- Fungsi Tyroid Normal
- Bone age terlambat
- Uji stimulasi/provokasi untuk hormone pertumbuhan
V. Kelainan Tiroid
- T4 rendah dan TSH meningkat kemungkinan : Thyroid binding protein defisiensi,
gangguan pituitaria sekunder, gangguan Hipothalamus tertier.
- Penderita harus dirujuk untuk evaluasi lebih lanjut.

PENYULIT
- Organis, metabolik
- Psikologis terutama pada remaja (rendah diri)
- Fungsional dalam memenuhi standard dimasyarakat (keterbatasan bidang pekerjaan
dsb.)
- Pengobatan dengan hormon pertumbuhan walaupun sangat jarang terjadi perlu
diantisipasi dengan informed consent adanya pseudotumor cerebri, FT
4
rendah dan
resistensi Insulin.

PENATALAKSANAAN
- Lihat Algoritma (Berman) lampiran
- Psikoanalisa (pada ahli psikologi)
- Medikamentosa
- Konseling (Genetika atau Psikiatri)
- Pemantauan (monitoring)
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, antara lain :
Nutrisi.
Organic disease .
Hormonal (pada defisiensi hormon pertumbuhan, sindroma Turner,hipotyroid dan lain-
lainnya)
Mechanical/pembedahan (bone lengthening) pada skeletal dysplasia dan tumor.