KLINEFELTER'S SYNDROME, A CLINICAL AND CYTOGENIC STUDY IN TWENTY-FOUR CASES

Publisher Website
Google Scholar
Abstract
Clinical and cytogenetic studies were made of twenty four patients with Klinefelter's syndrome in order to determine the somatic consequences of X chromosomal overdosage and its effect on the incidence of metabolic and degenerative diseases. Salient features of the group were tall stature, obesity, a high incidence of diabetes mellitus, hyperlipemia, hypercholesterolemia, gall bladder disease, chronic pulmonary infection, peptic ulcer, varicose veins, laboratory indices of hypothyroidism and a disordered personality. There was a striking absence of hypertension, myocardial infarction and rheumatoid arthritis and no case of hyperthyroidism, thyroiditis or gout. Family histories revealed a high incidence of diabetes mellitus in close relatives. Thus the second X chromosome, although it is sequestered in adult life appears to have profound metabolic as well as morphological effects.

This publication has 0 references indexed in Scilit: