The purpose of this protocol is to clarify the role of adrenal and ovarian steroidogenesis in the pathophysiology of the phenotype associated with chronic anovulatory hyperandrogenism. In this protocol, ACTH and hCG stimulation tests are used to determine androgen production from the adrenal and ovary, respectively. Molecular genetic studies performed to determine if patients carry mutations in the genes encoding steroidogenic enzymes. These studies are the basis for phenotype/genotype correlations in chronic anovulatory hyperandrogenism.

Project Start
Project End
Budget Start
Budget End
Support Year
34
Fiscal Year
1996
Total Cost
Indirect Cost
Kelsey, Megan M; Braffett, Barbara H; Geffner, Mitchell E et al. (2018) Menstrual Dysfunction in Girls From the Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) Study. J Clin Endocrinol Metab 103:2309-2318
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Leslie, Elizabeth J; Liu, Huan; Carlson, Jenna C et al. (2016) A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. Am J Hum Genet 98:744-54
Kelsey, Megan M; Geffner, Mitchell E; Guandalini, Cynthia et al. (2016) Presentation and effectiveness of early treatment of type 2 diabetes in youth: lessons from the TODAY study. Pediatr Diabetes 17:212-21

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