Metabolic syndrome in children with abdominal obesity

withdrawn ________________ R-7 Read by Title A146G Polymorphism in the steroidogenic factor-1 (SF-1) gene and its association of ambiguous genitalia with apparent partial androgen insensitivity Sunil Sinha1; Pascal Philiber t2; Svetlana Ten1; Charles Sultan2 1Maimonides Medical Center, Pediatric Endocrinology, Brooklyn, NY, United States; 2Hôpital Lapeyronie, CHU Montpellier, Service d’Hormonologie, Montpellier, France Background: Etiology of ambiguous genitalia in genotypic 46 XY subjects is heterogeneous. Mutation in Steroidogenic factor-1(SF-1) has been reported to be associated with disorders of sex development with or with out adrenal insufficiency in male. Patient: index case presented for evaluation of ambiguous genitalia on his 2nd day of life. He is a product of full term pregnancy form a non-consanguinity parents of African American origin. On physical examination, he found to have bifid mildly rugated scrotum with penoscrotal hypospadia and micropenis. Both of his testes were palpable in the scrotum. Family history is significant for presence of hirsutism (hair over the chin, upper lips) and severs acne in mother. No family history of ambiguous genitalia or infertility. On laboratory evaluation he found to have normal male 46 XY karyotype. His adrenal steroid hormone profiles were normal on ACTH stimulation test. Testosterone level increased from163 ng/dl to 529 ng/dl following a HCG stimulation test. Normal kidneys were identified on pelvic sonogram. A normal male urethra was outlined in voiding cystogram and genitogram. Mother found to have normal 7 OHP, testosterone levels. Method: Hormonal evaluation was done in first week of life. An ACTH and HCG stimulation test was done to evaluate adrenal and testicular function. Sequencing of the androgen receptor, 5 alpha reductase, WT-1 and SF-1 were done from the DNA obtained from peripheral blood. Results: No evidence of adrenal insufficiency noted on ACTH stimulation test. Mutations analyses of DNA were negative for Androgen receptor, 5 α reductase, WT-1 and SRY gene. He found to have A146G Polymorphism in the SF-1 gene. Conclusions: A146G polymorphism in SF-1 gene can be present with sever ambiguous genitalia. Apparent partial androgen insensitivity like picture with normal androgen receptor can be due to SF-1 gene mutation in contrary to the usual dysgenetic testes. ________________ R-8 Read by Title Childhood hypocalcemia after the neonatal