PITUITARY-FUNCTION IN 8 PATIENTS WITH FAMILIAL PITUITARY DWARFISM

Abstract

Pituitary function was evaluated in 4 pairs of familial pituitary dwarfs (2 sisters, 28 and 20 yr old, 2 brothers 15 and 10 yr old, 1 girl 19 yr old and her brother 7 yr old, and 1 girl 9 yr old and her brother 3.5 yr old), who all proved to have multiple pituitary hormone deficiency (MPHD), to find out whether a distinct intrafamilial or interfamilial pattern of deficiency existed. The response of FSH and LH [lutropin] to LHRH, of TSH to TRH, of growth hormone (GH) to L-dopa and of prolactin to sulpiride administration was studied. Basal levels of ACTH and cortisol (F) were also measured on 2 consecutive days. Basal FSH, LH and GH concentrations were below the sensitivity of the assay in all patients (except 1 who had measurable levels of LH) and showed no change after the appropriate stimulation. Basal TSH was normal in 6 patients and slightly increased in 2 members of the same family. Both these patients presented an exaggerated response to TRH. Three of the remaining patients showed a small and the other 3 no response to TRH. Basal prolactin values ranged within the normal limits, but prolactin was not increased during the sulpiride provocative rest. Mean basal ACTH was normal in 5 and low in 3 patients. Mean F levels were normal in 5, near the lower normal limit in 2 and low in 1 patient. This patient also had a low ACTH concentration. The lack of a common pattern of hormone deficiency in all families indicates a variability in the expression of the hypothalamo-pituitary defect, which suggests that the familial MPHD dwarfism constitutes a genetically and pathogenetically heterogenous group.