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

Autor: Jane Claffey, Anne P. Forbes, Linda Mantooth, Eric Engel, Klaus Zuppinger
Rok vydání: 1967
Předmět:
Zdroj: Acta Endocrinologica. 54:S5-S48
ISSN: 1479-683X
0804-4643
DOI: 10.1530/acta.0.054s005
Popis: 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.
Databáze: OpenAIRE