Differentials
Idiopathic short stature
SIGNS / SYMPTOMS
No organic cause.
Applies to healthy children with a height more than two standard deviation scores (SDS) below the mean for age and sex.
INVESTIGATIONS
Normal GH provocation tests.
No other associated pituitary hormone deficiency.
Normal MRI of pituitary.
Constitutional delay in growth
SIGNS / SYMPTOMS
Growth deceleration during the first 2 years followed by a normal growth velocity, with acceleration late in adolescence, leading to a final height that is close to the target height.
More frequent in boys; either parent may have been a 'late bloomer'.
Patients have a delayed pubertal development.
INVESTIGATIONS
Delayed bone age.
Normal baseline laboratory evaluation.
Familial short stature
SIGNS / SYMPTOMS
Patients are born an adequate size for gestational age.
Steady growth below the 5th percentile until reaching a final height that is appropriate for their target height.
Puberty is not delayed, and patients are proportionate.
INVESTIGATIONS
Clinical diagnosis.
Normal bone age.
Small for gestational age
SIGNS / SYMPTOMS
Includes patients who are born small for gestational age and have not caught up in height by the age of 2 years but who are otherwise healthy.
INVESTIGATIONS
Clinical diagnosis.
Hypothyroidism
SIGNS / SYMPTOMS
Most thyroid disorders occur more frequently in girls.
May be congenital or acquired.
Symptoms include lethargy, fatigue, excessive sleepiness, temperature dysregulation, menstrual abnormalities, and weight gain.
Secondary hypothyroidism may co-exist with GHD.
INVESTIGATIONS
Low free thyroxine (T4) and elevated thyroid-stimulating hormone (TSH) in primary hypothyroidism.
Low free T4 and low TSH in TSH deficiency (pituitary or secondary hypothyroidism).
Turner's syndrome
SIGNS / SYMPTOMS
Characteristic features include ovarian dysgenesis, hearing loss, aortic valve and/or renal abnormalities, and delayed or arrested puberty.
Presents only in girls.
INVESTIGATIONS
Chromosomal abnormality 45 XO, 46/45 XX/XO.
Noonan's syndrome
SIGNS / SYMPTOMS
Short stature with dysmorphic features, congenital heart defects (e.g., pulmonary valve stenosis), and learning problems.
INVESTIGATIONS
Clinical diagnosis.
Genetic testing: may be positive for a mutation in the PTPN11/SOS1/KRAS/RAF1 genes.
Russell-Silver syndrome
SIGNS / SYMPTOMS
Children born small for gestational age with dysmorphism (triangular face, clinodactyly, asymmetry).
Feeding problems, hypoglycaemia.
INVESTIGATIONS
Clinical diagnosis.
Genetic testing may reveal maternal uniparental disomy for chromosome 7 (mUPD7) or loss of methylation at 11p15.
Prader-Willi syndrome
SIGNS / SYMPTOMS
Marked hyperphagia, obesity, and learning difficulties.
INVESTIGATIONS
Deletion of the paternal copy of HBII-85 snoRNAs on chromosome 15q11-13; example of genetic imprinting disorder.
DiGeorge syndrome
SIGNS / SYMPTOMS
Cardiac defects, cleft palate, immune deficiency, hypocalcaemia, and learning difficulties. Also called velocardiofacial syndrome.
INVESTIGATIONS
Submicroscopic deletion in chromosome 22q11.2.
Faltering growth
SIGNS / SYMPTOMS
Any chronic medical condition can lead to short stature with or without poor weight gain and failure to thrive. Common conditions include chronic heart disease (congenital or acquired), asthma (moderate or severe), cystic fibrosis, coeliac disease, inflammatory bowel disease (Crohn's disease and ulcerative colitis), juvenile idiopathic arthritis, chronic renal failure, any chronic malignancy, and poorly controlled diabetes mellitus.
INVESTIGATIONS
Clinical diagnosis.
Specific laboratory tests will reveal disease.
Skeletal dysplasia
SIGNS / SYMPTOMS
Achondroplasia, hypochondroplasia, and osteogenesis imperfecta present with disproportionate short stature; dysmorphic features may be present.
INVESTIGATIONS
Skeletal survey reveals abnormality.
Rickets
SIGNS / SYMPTOMS
Disproportionate short stature, rachitic rosary, bow legs.
INVESTIGATIONS
Vitamin D is low.
Elevated alkaline phosphatase.
GH resistance
SIGNS / SYMPTOMS
Insensitivity or resistance to GH results in insulin-like growth factor 1 (IGF1) deficiency and extreme short stature.
Difficult to distinguish from GHD clinically.
INVESTIGATIONS
Normal or elevated basal GH levels.
Exaggerated GH response after provocation.
IGF generation test reveals the diagnosis.[42]
Child abuse
SIGNS / SYMPTOMS
Acquired cause of a reversible GHD.
Children who have been subjected to abuse and neglect present with short stature and a characteristic behavioural pattern that includes hyperphagia, bizarre eating habits that mimic organic compulsive eating disorders, vomiting, and polydipsia.
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