染色体47,XXYのhypogonadotropic hypogonadism

Abstract

A 46-year-old man was seen with a chief complaint of underdeveloped external genitalia. He had an eunuchoidal figure with height of 171 cm. He had child-like penis and scrotum without any secondary sexual characteristics. No gynecomastia was seen. Semen could not be collected. There was no abnormalities in eyes, ears, nose and throat. His intelligence was normal. Both testes were quite small (approximately 1.0×1.0×1.0 cm) and biopsy showed immature seminiferous tubuli and the interstitial tissue without peritubular hyalinization. Seminiferous tubuli contained only the immature Sertoli cells and were devoid of cells of spermatogonial line. Plasma FSH was 2.5mIU/ml and LH 4mIU/ml. Total urinary gonadotropin was less than 3 HMG unit per day, and total urinary 17-KS was 5.4~7.0 mg/day. Plasma testosterone was too low to be determined. Plasma HGH and ACTH were normal. He had normal thyroid function. His karyotype was 47, XXY. Dermatoglyphic study showed total ridge count 119 and a-b total ridge count 65 which were subnormal. Height of axial triradius and total atd angle were normal. Testosterone replacement therapy was instituted and the secondary sexual characteristics appeared, but he has remained azoospermic.