Clinical presentation

• Usually symptomatic hypoglycaemia which may result in convulsions.

• Asymptomatic hypoglycaemia and prolonged jaundice.

• Dysmorphic baby with midline anomalies.

• Micropenis.

Congenital hypopituitarism is uncommon and may not present in the neonatal period.

It results from a deficiency of any or all of the hormones secreted by the pituitary gland:

• Anterior pituitary hormones

1. – Adrenocorticotrophic hormone (ACTH).

2. – Thyroid-stimulating hormone (TSH).

3. – Luteinizing hormone (LH) and follicle stimulating hormone (FSH).

4. – Growth hormone (GH).

5. – Prolactin.

• Posterior pituitary hormone

1. – Antidiuretic hormone (ADH).

There may be an isolated hormone deficiency (GH deficiency is the most common) or combined pituitary hormone deficiencies.

Approach to the problem

History: Perinatal complications (breech delivery, Caesarean section, prolonged or precipitous delivery, intrapartum distress, and a low APGAR score) are common.

• Anterior hypopituitarism:

1. – Symptoms and signs of hypoglycaemia (see Chapter 2).

2. – Other symptoms and signs include micropenis (see Chapter 6), hypothermia, conjugated hyperbilirubinaemia.

3. – Dysmorphic features such as midline defects and craniofacial anomalies (see Chapter 5).

4. – Ophthalmic examination may reveal optic nerve hypoplasia/dysplasia.

5. – Most have a birth length and weight below the mean (although usually within normal centiles).

6. – Some have severe growth failure, even at birth.

7. – Although some children may grow normally in early childhood, in others growth failure is more immediate.

• Posterior hypopituitarism:

1. – May present with polyhydramnios.

2. – After birth, there may be signs of dehydration: excessive weight loss, irritability, fever, hypernatraemia, convulsions, or coma.

3. – Breast-fed babies may present later with failure to thrive, anorexia, vomiting, fever, constipation, or developmental delay.