Abnormal development of the sella turcica and lack of pituitary visualization in a patient with partial...

We report the case of a 17-year-old girl presenting short stature (height 149 cm, below the 3rd percentile), obesity (weight 83.5 kg, body mass index 37 kg/m2) and secondary amenorrhea, in whom endocrinological evaluation disclosed an absolute lack of GH responsiveness to both suprapituitary challenges and repetitive growth hormone releasing hormone administration together with failure of plasma gonadotropins and PRL, low under basal conditions, to rise in response to GnRH and insulin-hypoglycemia, respectively. In contrast, basal and stimulated TSH and ACTH secretions were normal. Radiological examination of the skull revealed virtual absence of the pituitary fossa due to the lack of sellar cavum and dorsum, while magnetic resonance was unable to detect any pituitary tissue. A mucosal cleft of the nasopharynx, compatible with a pharyngeal hypophysis, was disclosed at endoscopy. This is an unusual case of developmental abnormality including lack of formation of the sella turcica and incomplete caudal migration of the embryonal anterior pituitary, resulting in ectopically located--likely pharyngeal--pituitary tissue. In view of the occurrence of spontaneous menarche and of a growth impairment less severe than one would expect considering the degree of GH deficiency, it is conceivable that the ectopic pituitary tissue has lost, in time, some of its secretory ability.