We present a case of TD, a 26 year old male with prolonged untreated hypopituitarism, its effects and ongoing treatment challenges.
Diagnosis/ Childhood: TD was diagnosed with hypopituitarism after neonatal hypoglycaemia and prolonged jaundice. Growth was appropriate with hormone replacement but height slowed to below the 1st centile at the age of 5years. He was not compliant from the age of 6years when he was lost to follow up due to a family breakdown.
Adulthood: He was referred to the Adult Endocrinology unit at the age of 22years, with no treatment since the age of 6 years. At this time, he was below target height and had incomplete pubertal development. Hormone investigations confirmed hypopituitarism with central hypothyroidism and hypogonadotrophic hypogonadism. Imaging confirmed posterior pituitary maldescent and right optic nerve hypoplasia. Bone mineral density (BMD) showed a T score of -2.4 in the femoral neck and sleep study showed moderate obstructive sleep apnea. TD was commenced on appropriate hormone replacement and nocturnal ventilation therapy.
Current status: TD has again missed hormone replacement medications with minimal symptoms. BMI has now increased to 35kg/m2 with some improvement in hair distribution. Repeat blood tests confirm poor compliance, especially with oral therapy.
Discussion: Multiple mutations have now been associcated with combination of hypopituitarism and optic nerve hypoplasia. Partial preserved pituitary function is likely to help survival in patients with hypopituitarism. TD’s diagnosis was appropriately made but poor childhood/pubertal compliance has led to impaired growth and gonadal development. Hypopituitarism increases mortality, especially from poor metabolic control. Treatment adherence continues to be a challenge, even to this day.