Endocrine function in a 48,XXYY adult with type 2 diabetes: case report with a review of the literature

Ann Endocrinol (Paris). 2007 Oct;68(5):384-8. doi: 10.1016/j.ando.2007.07.002. Epub 2007 Sep 11.

Abstract

We present the clinical, biological, endocrinal and psychological characteristics of a 48,XXYY adult. The 43-year-old male examined is the first reported case of this XY polysomy concomitant with type 2 diabetes. Endocrine investigations suggested dysfunction of Leydig and Sertoli cells whereas the pituitary function appeared normal. We compare the phenotypic, behavioral and pathological features of the syndrome in our patient with other reports in the literature.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Androgens / blood
  • Chromosomes, Human, X / genetics*
  • Chromosomes, Human, Y / genetics*
  • Diabetes Mellitus, Type 2 / blood
  • Diabetes Mellitus, Type 2 / complications
  • Diabetes Mellitus, Type 2 / genetics
  • Estrogens / blood
  • Glycated Hemoglobin / metabolism
  • Humans
  • Male
  • Sex Chromosome Aberrations / classification*

Substances

  • Androgens
  • Estrogens
  • Glycated Hemoglobin A