A Case of Hypogonadotropic Hypogonadism with an XY/XXY Sex Chromosome Mosaicism

Abstract

A 74-year-old man with chief complaints of underdeveloped external genitalia and dysuria was seen at our clinic. His penis was extremely undergrown, with true phimosis and preputial balanitis which were confirmed to be responsible for the difficulties in urination. His testes were both abnormally small. Hair had not grown at the axillary, pubic or upper lip areas, although he bore no feminized breast. His sex chromosome constitution showed a mosaic of XY (40%) and XXY (60%) on a leukocyte culture. Hormone assay showed low levels for LH as well as for plasma testosterone. LH-RH loading tests failed to result in increase in gonadotropin or testosterone. Histological examinations indicated that the testes were abnormally undergrown, that the diameters of the seminiferous tubules were very small, and that the basement membrane was extremely thin. The tubular epithelium consisted only of Sertoli cells with no sign of spermatocytes. The presence of intratubular bodies stained homogeneously with eosin was confirmed. The stroma was edematous and contained neither Leydig cells nor their clumps. © 1974, Tohoku University Medical Press. All rights reserved.