title: Late-onset congenital adrenal hyperplasia in a group of hyperandrogenic women.
abstract: The aim of this study was to determine the prevalence of late-onset congenital adrenal hyperplasia (LOCAH) in a group of hyperandrogenic women presenting with menstrual disturbances and/or infertility. Thirty-five women were evaluated by basal hormonal profiles and underwent ACTH stimulation testing. In this study, 17.1% of women showed evidence of partial 21-OH deficiency (21-OHD), and 5.7% 3 beta-HSD deficiency. Neither basal hormonal levels nor clinical characteristics distinguished women with LOCAH from other hyperandrogenic women. And although the mean basal 17-OH progesterone (17-OHP) level in women with 21-OHD (152 +/- 66 ng/dl) was significantly higher than levels in other hirsute women, 4 of 6 (67%) women with 21-OHD had normal 17-OHP levels. Thus, to identify all affected individuals with partial 21-OHD, our data suggest that hyperandrogenic women with basal unsuppressed 17-OHP levels greater than 100 ng/dl should undergo dynamic testing. With regard to partial 3 beta-HSD deficiency, basal DHEA-S levels greater than the 95th percentile of other hirsute women may be used to screen for this deficiency. In conclusion, LOCAH due to partial steroid enzyme deficiencies are a frequent occurrence in women who present with symptoms of hyperandrogenism and ACTH stimulation remains an important tool in making the diagnosis of enzyme deficiencies.
authors.affiliation: Jones Institute for Reproductive Medicine, Department of Obstetrics and Gynecology, Eastern Virginia Medical School, Norfolk, Virginia 23507.
authors.forename: D K
authors.initials: DK
authors.lastname: Hassíakos
authors.forename: J P
authors.initials: JP
authors.lastname: Toner
authors.forename: G S
authors.initials: GS
authors.lastname: Jones
authors.forename: H W
authors.initials: HW
authors.lastname: Jones
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis*; D000324:Adrenocorticotropic Hormone; D000328:Adult; D000568:Amenorrhea / Q000097:blood; D000728:Androgens / Q000097:blood*; D003937:Diagnosis, Differential; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006628:Hirsutism / Q000097:blood; D006801:Humans; D007247:Infertility, Female / Q000097:blood; D007986:Luteinizing Hormone / Q000097:blood
chemical_list: D000728:Androgens; D000324:Adrenocorticotropic Hormone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone