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).