[Endocrine insufficiency in alcaptonuria? A case report and survey of the literature (author's transl)].

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.