[Maturity-onset-diabetes-of-the young-5 and genital malformations diagnostic management: case report].
With an incidence of 5% in the female population, genital malformations are a frequent clinical occurrence presented by Oppelt et al. (2007) [1]. First, we have to diagnostic them and search for extra genital malformation when it is necessary. Think about maturity-onset-diabetes-of-the young 5 (MODY-5) when there's a personnel or family story of diabetes. This is often within the competence of the diabetologist and our speciality can be put in contribution in the research for the associated genital malformation. We report on the case of a young woman age of 19 with diabetes diagnosed during her adolescence, a nephropathy with polycystic kidneys, biological cytolysis, a bicornuate unicervical uterus while this may be a clinical diabetes MODY-5 confirmed by the discovery of the complete deletion of the gene coding for HNF-1 beta in the heterozygous state.
Service de gynécologie-obstétrique et de médecine de la reproduction, CHU de Reims, institut Alix-de-Champagne, 45, rue Cognacq-Jay, 51100 Reims, France. sophie.defert@free.fr
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D000328:Adult; D003924:Diabetes Mellitus, Type 2 / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D017588:Hyperandrogenism / Q000150:complications; D007328:Insulin / Q000627:therapeutic use; D007690:Polycystic Kidney Diseases / Q000150:complications* / Q000235:genetics; D014599:Uterus / Q000002:abnormalities*
D007328:Insulin; D051539:Hepatocyte Nuclear Factor 1-beta