title: Endocrine function in a 48,XXYY adult with type 2 diabetes: case report with a review of the literature.
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.
authors.affiliation: Department of Endocrinology, Diabetes and Nutrition, University Hospital of Angers, France. sedubois@chu-angers.fr
authors.forename: S
authors.initials: S
authors.lastname: Dubois
authors.forename: F
authors.initials: F
authors.lastname: Illouz
authors.forename: L
authors.initials: L
authors.lastname: Pinson
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
authors.forename: V
authors.initials: V
authors.lastname: Rohmer
authors.forename: A
authors.initials: A
authors.lastname: Guichet
mesh_terms: D000328:Adult; D000728:Androgens / Q000097:blood; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000150:complications / Q000235:genetics; D004967:Estrogens / Q000097:blood; D006442:Glycated Hemoglobin / Q000378:metabolism; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations / Q000145:classification*
chemical_list: D000728:Androgens; D004967:Estrogens; D006442:Glycated Hemoglobin