Endocrine Abstracts

Introduction: Pallister-Hall syndrome (PHS) is a very rare congenital syndrome, and its exact prevalence is still unknown. The clinical diagnosis is usually made when a hypothalamic hamartoma is associated with polydactyly. Endocrine manifestations consist of hypopituitarism, hypopituitarism, which can affect one or more pituitary axes, and precocious puberty. Here, we report the case of an 18-year-old young man in whom the diagnosis of PHS was delayed until his hospitalization in the endocrinology department for acute adrenal insufficiency.

Observation: The patient was an 18 years old young man who presented to the emergency room with clinical and biological features of an adrenal crisis. The medical history revealed several surgeries: a corrective one for polydactyly, a surgery for testicular ectopia and for a hypothalamic tumour diagnosed at the age of three years complicated with hypopituitarism. He would have received growth hormone for two years from the age of twelve. He was on hormone replacement therapy for hypothyroidism and adrenal insufficiency, and he stopped his treatment for a week. He had no medical follow-up for several years. The patient’s family history was unknown as he was an adopted child. Physical examination showed a height of 157 cm (-3SD), a weight of 68 kg and a BMI of 27.5 kg /m². We noted an inequality of the two lower limbs. External genitalia’s examination revealed a micropenis and hypoplastic testes. PHS was suspected and further investigations were then performed. An otolaryngology examination showed bifid epiglottis and laryngeal cleft. X-rays of the left hand revealed a surgically corrected postaxial type A polydactyly. Pelvic x-ray showed bone demineralisation and Risser stage was 4. Ultrasounds of heart, abdomen and kidneys were normal. The pelvic ultrasound showed hypoplastic testes. Brain MRI revealed a sellar and suprasellar mass measuring 28x25x24 mm corresponding to hypothalamic hamartoma. On biochemical evaluation, the renal and hepatic functions, blood count, serum calcium and serum phosphorus results were normal. The pituitary assessment showed a thyrotropin and gonadotropin deficiencies

Conclusion: This patient’s presentation shows that PHS may be misdiagnosed given its extremely low prevalence. Practitioners who may see patients with PHS at the young age (pediatricians, surgeons) should be familiar with this disease to avoid late diagnosis which may compromise patient prognosis.