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The latter include life-threatening salt-wasting crises, prenatal virilization of genitalia in women (classic CAH [C-CAH]) as well as milder forms of the disease exclusively presenting with hirsutism, acne or reduced fertility (nonclassic CAH [NC-CAH]), and could influence sexual function and identity.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Aim<\/jats:title>\n                  <jats:p>The present study evaluated sexual function, gender identification, and partner preference in women with C-CAH and NC-CAH.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>In a cross-sectional cohort analysis, 35 female patients with CAH were divided into 2 groups: C-CAH (salt-wasting\/simple virilizing; n\u00a0= 17) and NC-CAH (n\u00a0= 18) according to genotype and phenotype. Sexual function and sexual distress were assessed using established questionnaires, including the Female Sexual Function Index. Phenotype (defined by signs of hyperandrogenism) was assessed clinically (Ferriman-Gallwey score) and with the ovulatory function index. CYP21A2 genotype was determined by Sanger sequencing and multiplex ligation-dependent probe amplification. Sexual function was also separately analyzed in the context of clinical signs of androgenization in women with (n\u00a0= 13) and without acne (n\u00a0= 22).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Outcomes<\/jats:title>\n                  <jats:p>The study outcomes were sexual function and sexual distress in relation to genotype, clinical signs of androgenization, and biochemical parameters.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Women with NC-CAH had significantly lower orgasm scores, a trend toward lower sexual function with higher sexual distress, as well as biochemical evidence of hyperandrogenism (higher dehydroepiandrosterone sulfate and lower SHBG) and a trend toward more clinical signs of hyperandrogenism (hirsutism). Indicators of in utero and childhood androgen excess as well as the presence of acne in all patients were related to lower sexual function and higher sexual distress. Clinical signs of hyperandrogenism correlated well with cardiovascular and metabolic risk factors.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Clinical Translation<\/jats:title>\n                  <jats:p>Women with NC-CAH and women with clinical signs of hyperandrogenism demonstrated higher distress compared to women with C-CAH and women without clinical signs of hyperandrogenism, respectively, regarding different aspects of sexual function.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>These data underline the importance of early diagnosis and therapy initiation, especially in patients with NC-CAH.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1016\/j.jsxm.2019.07.009","type":"journal-article","created":{"date-parts":[[2019,8,22]],"date-time":"2019-08-22T12:26:40Z","timestamp":1566476800000},"page":"1529-1540","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"title":["Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia"],"prefix":"10.1093","volume":"16","author":[{"given":"Marie Helene","family":"Schernthaner-Reiter","sequence":"first","affiliation":[{"name":"Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, , Medical University of Vienna , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabina","family":"Baumgartner-Parzer","sequence":"additional","affiliation":[{"name":"Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, , Medical University of Vienna , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans Christian","family":"Egarter","sequence":"additional","affiliation":[{"name":"Clinical Division of Gynecologic Endocrinology and Reproductive Medicine, Department of Obstetrics and Gynecology, , Medical University of Vienna , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Krebs","sequence":"additional","affiliation":[{"name":"Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, , Medical University of Vienna , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Kautzky-Willer","sequence":"additional","affiliation":[{"name":"Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, , Medical University of Vienna , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathrin","family":"Kirchheiner","sequence":"additional","affiliation":[{"name":"Department of Radiation Oncology, Comprehensive Cancer Center, Christian Doppler Laboratory for Medical Radiation Research for Radiation Oncology, , Medical University of Vienna , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anton","family":"Luger","sequence":"additional","affiliation":[{"name":"Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, , Medical University of Vienna , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Bayerle-Eder","sequence":"additional","affiliation":[{"name":"Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, , Medical University of Vienna , Austria"},{"name":"Clinical Division of Gynecologic Endocrinology and Reproductive Medicine, Department of Obstetrics and Gynecology, , Medical University of Vienna , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,8,22]]},"reference":[{"key":"2023012309531655000_bib1","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1210\/jc.2004-1728","article-title":"Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population","volume":"90","author":"Baumgartner-Parzer","year":"2005","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"2023012309531655000_bib2","article-title":"Sexual Dysfunctions. 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