Short Stature at Pediatric Clinic DRHC Dubai

Longitudinal growth assessment is essential in child care. Short stature can be recognized only with accurate measurement of growth and critical analysis of growth data. The causes of short stature can be divided into 7 categories:

• Chronic disease
• Familial short stature
• Constitutional growth delay
• Endocrine diseases
• Skeletal diseases
• Genetic syndromes

• CHRONIC DISEASES: Heart failure, kidney failure, renal tubular acidosis, cystic fibrosis, inflammatory bowel disease, malabsorption, recurrent infection, and many other chronic diseases lead to growth failure and short stature, and in this case, the weight is also affected.
• FAMILIAL SHORT STATURE: The child has normal growth velocity, normal bone age, and predicted adult height appropriate to the familial pattern.
• CONSTITUTIONAL SHORT STATURE: The child has delayed bone age, a family history positive for 1^st or 2^nd degree, members have constitutional short stature, and delivery weight and height are normal. Growth velocity is normal in the 1^st year of life, and at 3 years, the child has short stature. Between 1-3 years, there will be low growth velocity, delayed puberty, and then finally he will have a normal stature appropriate with predicted adult height.
• ENDOCRINE DISEASES: Growth hormone deficiency may result from disruption of the growth hormone axis in the brain, hypothalamus, or pituitary. This dysfunction can be congenital or acquired.

Congenital GH deficiency may be associated with an abnormal pituitary gland or may be part of a syndrome such as septo-optic hypoplasia. Acquired GH deficiency may be a result of trauma, Histiocytosis, radiation, or infection of the pituitary gland.

Hypothyroidism:

1. Congenital primary hypothyroidism
2. Acquired hypothyroidism
3. Hypothalamic or pituitary hypothyroidism.

Typical features of infants with hypothyroidism include large size, umbilical hernia, prolonged jaundice, poor feeding, hypothermia, myxedema, constipation, and increased height-to-weight ratio.

IGF1 DEFICIENCY: Severe short stature

• Laron dwarfism (GH resistance)
• Genetic defect in the GH receptor gene
• IgF1 gene mutation

PSEUDOHYPOPARATHYROIDISM: Primary resistance to PTH. The patient presents with features of hypocalcemia, cramping, tetany, and seizure. They have obesity, short stature, and skeletal abnormalities.

CUSHING SYNDROME: ACTH–producing pituitary tumor or adrenal tumor.

High cortisol level → Cushing features (obesity, short stature, moon face, large neck, stretch skin mark, hypertension)

• SKELETAL DISEASE: Achondroplasia, osteogenesis imperfecta (blue sclera, fractures). Dysmorphic features present with a disproportionate between low segment and high segment of the body.
• GENETIC SYNDROME: Turner syndrome, Noonan syndrome, Silver-Russel syndrome, DiGeorge syndrome, Prader Willi Syndrome, Down syndrome, Shwachman-Diamond Syndrome
• Short stature can also be associated with neglect and child abuse.

Diagnostic Approach for Short Stature

History:

• Birthweight and length will identify intrauterine growth retardation.
• Perinatal complications, hypoglycemia, and micropenis are suggestive of GH deficiency.
• Any signs of chronic disease (dyspnea, diarrhea, blood in stools, joint pain, recurrent respiratory tract infection)
• Weight gain → Cushing syndrome
• Fatigue, constipation, dry skin → Hypothyroidism
• Multiple systemic congenital abnormalities → Genetic syndromes
• Parental height
• Social history
• Dietary history
• Chronic steroid treatment

Physical Examination

1. Growth data: Examination of a child’s height over the years can provide an important clue.
2. Growth velocity: Serial measurements plotted on a growth chart can give us an idea about the growth velocity if it’s normal or slow.
3. Target height: We can calculate as follows:

GIRLS - [(height of mother & height of father)/ 2] - 6.5 cm

BOYS – [(mothers height & fathers height)/ 2] + 6.5 cm

• A short-statured child who is growing close to his target height percentile is likely to have familial short stature.

Physical Examination – weight and height

• General physical examination for all the systems to detect any chronic diseases can cause short stature and growth fallen, or multiple systemic dysmorphic suggesting genetic syndromes.
• Pubertal examination and pubertal stage – pubertal delay is a key for constitutional delay or endocrine disease (hypopituitarism)

BONE AGE: (LEFT HAND AND WRIST XRAY) – bone age delay is constitutional short stature and endocrine disease with short stature.

LABORATORY EVALUATION - If needed, according to history and physical examination

• CBC, ESR, urine analysis, liver, kidney function for chronic disease, sweat chloride testing
• GH stimulation test, IGF1, IGFBP-3
• FT4, TSH, ASTH, urine, serum cortisol, dexamethasone suppression test
• MRI for pituitary disease
• Karyotype for genetic syndromes

Treatment:

• It depends on the etiology of the short stature.
• Hormone replacement – surgical treatment for a brain or adrenal tumor.

GH replacement is used to treat growth hormone deficiency in children whose epiphyses are not yet fused. GH replacement causes a significant increase in growth velocity (10-11) during the first year of treatment.

Dubai Pediatric Clinic at Dr Rami Hamed Center provides one of the leading pediatricians in Dubai. Please call +97142798200 to book an appointment today with us!