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A complete endocrinological exploration was performed in a 23 year old male patient who presented clinical signs of an acquired panhypopituitarism which appeared two months after a severe head trauma, in order to determine whether the deficit lay in the hypothalamus or in the pituitary. TSH had normal basal levels, but presented a delayed rise after TRH administration. PRL rose normally after TRH administration, but presented a blunted response to both metoclopramide and insulin tolerance test. Cortisol rose significatively after lysine vasopresssin, but failed to rise during insulin hypoglycaemia. These results are consistent with a hypothalamic defect. Extensive endocrinological data are often lacking in the few similar cases reported in the literature. Prl and TSH were usually found to have normal basal levels while other pituitary hormones were profoundly lowered. This was interpretated as a pituitary defect with some intact areas of the anterior lobe. However, this may also suggest a hypothalamic defect which could have been assessed by more discriminative tests.

A large pituitary prolactinoma was found in a mentally deficient 45 year old woman presenting with amenorrhoea, glactorrhoea, headache, anaemia and hypertension, and removed surgically. She was subsequently found to have multiple adrenal aldosterone-producing adenomas, a gastric schwannoma and colonic polyadenomas. All these tumours were also removed surgically. Despite the absence of parathyroid and islet-cell hyperplasia, this case seems to be a variant of multiple endocrine neoplasia (MEN) type I.

We report severe 17α-hydroxylase deficiency in a 17 year-old black girl with 46,XX genotype. The diagnosis was suspected because of primary amenorrhoea, absence of sexual maturation, hypertension and hypokalaemia with renal potassium wasting. Endocrine investigation revealed low basal levels of all steroid hormones which require 17α-hydroxylation for biosynthesis (i.e. glucocorticoids, androgens and oestrogens). No increase in their basal levels was seen following adrenal stimulation, indicating a severe block. Plasma concentrations of ACTH, FSH and LH were elevated as were progesterone, 11-deoxycorticosterone and corticosterone. Plasma renin activity was suppressed and aldosterone levels were very low. After 4 months of glucocorticoid replacement therapy, aldosterone was still low, even though the suppression was otherwise effective. Our case is unusual because bilateral streak gonads and impaired development of Müllerian ducts derivatives were also present. To our knowledge, a similar case has never been reported before.