Watts R W, Harkness R A, Spellacy E, Taylor N F
Division of Inherited Metabolic Diseases, Northwick Park Hospital, MRC Clinical Research Centre, Harrow, UK.
J Inherit Metab Dis. 1987;10(3):210-23. doi: 10.1007/BF01800063.
There is a failure of growth in hypoxanthine guanine phosphoribosyltransferase deficiency; slow weight gain is marked after the second year of age but is apparent in the birth weights of all eight of our patients for whom we have data. However, head growth and bone development are less affected than weight. A partial defect in the adrenocortical 11 beta-hydroxylation of steroids was demonstrated after ACTH stimulation in all four patients studied. This hydroxylation takes place in mitochondria the function of which is modulated by purine nucleotide concentrations; this may be the link with the enzyme defect. Testicular atrophy at autopsy was found in two pubertal age boys and seven patients aged 12-17 years had no signs of puberty. All five boys aged 3-11 years showed less than the normal mean response of plasma testosterone concentration to human chorionic gonadotrophin despite the normal histological appearance of the testes of one 6-year-old-boy. Follicle stimulating hormone responses to gonadotrophin releasing hormone are probably less than in normal in at least three of the seven prepubertal boys. The absence of the normally high activities of hypoxanthine guanine phosphoribosyltransferase in testes appears to inhibit their ability to respond to gonadotrophin.
次黄嘌呤鸟嘌呤磷酸核糖基转移酶缺乏症存在生长发育迟缓；两岁以后体重增加缓慢，但在我们有数据的所有八名患者的出生体重中就已明显。然而，头部生长和骨骼发育受影响程度小于体重。在接受促肾上腺皮质激素刺激的所有四名研究患者中，均证实存在类固醇肾上腺皮质11β-羟化的部分缺陷。这种羟化作用发生在线粒体中，其功能受嘌呤核苷酸浓度调节；这可能是与酶缺陷的联系。尸检发现两名青春期男孩存在睾丸萎缩，七名12至17岁的患者没有青春期迹象。尽管一名6岁男孩的睾丸组织学外观正常，但所有五名3至11岁的男孩血浆睾酮浓度对人绒毛膜促性腺激素的反应均低于正常平均水平。在至少七名青春期前男孩中的三名中，促卵泡激素对促性腺激素释放激素的反应可能低于正常水平。睾丸中缺乏正常高水平的次黄嘌呤鸟嘌呤磷酸核糖基转移酶似乎抑制了它们对促性腺激素的反应能力。
