A family case with autosomal-dominantly inherited pituitary dwarfism.

Abstract

Isolated growth hormone (GH) deficiency (IGHD) is detected in 1 / 10 of pituitary dwarfism, but there are only a few reports on IGHD as an autosomal-dominant trait. We found one family with autosomal-dominantly inherited IGHD and examined their pituitary functions and GH genomes. Brothers (9.5 year and 11 year) and their mother (37 year) were diagnosed as having IGHD and their grandmother and uncle also seemed to have IGHD. All of their heights were under "mean 4.0 s.D.". Cerebral tomograpy of brothers and their mother all showed "empty sella", and GH-releasing hormone (GRH) tests showed no responses of GH not only to bolus intravenous injections but also after repeated intramuscular injections of GRH (100,ug/day) for 7 days. Although genetic analysis (Southern blotting method) could not detect any mutations in their GH genomes, the IGHD lesion of them seemed to be pituitary in origin. pituitary dwarfism ; autosomal-dominant ; family casePituitary dwarfism is often familial, but most of familial cases were of autosomal-recessive form, and there were only a few reports of those with the autosomal-dominant form (Tysone 1971;Poskitt and Rayner 1974; van Gelderen and van der bog 1981;Rogol et al. 1985). As to the lesion in the latter cases, there were few reports suggesting that the lesion was either pituitary or hypothalamic. To resolve this problem, GRH tests including both bolus and repeated injections of GRH and cerebral tomography were undertaken.Furthermore, to examine whether the etiology of the autosomal-dominant form of IGHD was due to abnormalities of GH genomes or not, genetic analysis was carried out.

Genetic Defects in the Control of Growth Hormone Secretion

“…Pedigree patterns consistent with dominant inheritance were reported also by Butenandt and Knorr [5] and by Sadeghi-Nejad and Senior [6]. Tani et al [7] described 5 cases of isolated GHD in 3 successive generations. In the 3 patients who were so studied, Southern blot analysis showed no abnormalities in their GH genes.…”