Mühlen-Hoffmeister E, Reinwein D
Med Klin. 1979 Jun 1;74(22):877-82.
In a 49 years old patient with alcaptonuria we studied the question whether disturbances of the endocrine organs by deposition of products of homogenistic acid could be detected analogous to disturbances of connective tissue. The function of the hypothalamus and the pituitary gland were shown to be normal. The only defect of the endocrine organs was a hypergonadotropic hypogonadism with a serum testosterone of 5.4 and 9.4 mumol/l respectively (155 and 270 ng/dl rsp.) at elevated LH and FSH values. A sufficient stimulation of the testosterone in serum by chorionic gonadotropin (Primogonyl) could be demonstrated, thus supporting the diagnosis of a compensated insuffiency of the Leydig cells. This disorder might be a late endocrine defect due to the basic metabolic disturbance of the disease.
在一名49岁的褐黄病患者中，我们研究了一个问题，即是否能像检测结缔组织紊乱一样，检测到尿黑酸产物沉积对内分泌器官的干扰。结果显示，下丘脑和垂体功能正常。内分泌器官唯一的缺陷是促性腺激素增多性性腺功能减退，促黄体生成素（LH）和促卵泡生成素（FSH）值升高时，血清睾酮分别为5.4和9.4 μmol/L（分别相当于155和270 ng/dl）。绒毛膜促性腺激素（普丽康）能充分刺激血清睾酮升高，从而支持了莱迪希细胞功能代偿性不足的诊断。这种紊乱可能是该疾病基础代谢紊乱导致的晚期内分泌缺陷。
