Case presentation
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 clinical course was good after intravenous hydrocortisone replacement and infusion with physiological saline solution. The medical history revealed several surgeries: a corrective one for meso-axial 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 a surgically corrected postaxial polydactyly and an inequality of the two lower limbs (fig 1). Examination of the external genitalia revealed a micropenis and hypoplastic testes (fig 2). PHS was suspected and further investigations were then performed. An otolaryngology examination showed a bifid epiglottis as well as a laryngeal cleft (fig 3). X-rays of the left hand revealed a surgically corrected postaxial type A polydactyly (fig 4A). Pelvic x-ray showed bone demineralisation and the Risser stage was 4 (fig 4B). Ultrasounds of the heart, the abdomen and kidneys were normal. The pelvic ultrasound showed hypoplastic testes. Brain MRI revealed a sellar and suprasellar mass measuring 28x25x24 mm corresponding to a hypothalamic hamartoma (fig 5). 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 (Table 1).