Clinical presentation

Dysmorphic features may point to an underlying endocrine abnormality.

Approach to the problem

Examination for

• Midline defects, e.g. central cleft palate and/or lip, hypotelorism or hypertelorism.

• Features of recognizable syndrome, e.g. Beckwith–Wiedemann syndrome (macroglossia, ear lobe creases, exomphalos), Smith–Lemli–Opitz (microcephaly, second- and third-toe syndactyly, see below), Robinow syndrome.

Other physical features to look for

• Symmetrical growth retardation.

• Micropenis (hypopituitarism, dysmorphic syndrome, see below).

• Large-for-gestational-age, exomphalos, ear lobe creases (Beckwith–Wiedemann syndrome).

Other symptoms/signs

• Hypoglycaemia (hormone insufficiency: e.g. cortisol, growth hormone (GH); hormone excess: i.e. insulin; metabolic abnormality).

• Hypothermia (hypopituitarism; sepsis, which can be secondary to an underlying metabolic problem).

• Prolonged jaundice (hypopituitarism).

• Tetany or seizures (hypocalcaemia).

History of

• Consanguinity suggestive of an autosomal recessive problem.

• Neonatal death suggestive of inherited disorder, e.g. metabolic disorder previously presenting as Escherichia coli septicaemia.

Facial appearance of parents (i.e. facial features may be normal for the family).

Differential diagnosis

• Underlying genetic defect

• Hypopituitarism with or without septo-optic dysplasia (SOD), optic nerve hypoplasia (ONH)

• Hypoadrenalism

• Hypocalcaemia (hypoparathyroidism, e.g. DiGeorge syndrome)

• Metabolic disorder

Identify those with implication for:

• urgent management (Beckwith–Wiedemann, SOD, inborn errors of metabolism);

• hormone balance in the newborn period (infants with Down's syndrome have an increased incidence of hypothyroidism).

Always consider hypopituitarism in the infant with undermasculinized genitalia, particularly when associated with hypoglycaemia and/or hypotension.