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Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia.
J Sex Med. 2019 10; 16(10):1529-1540.JS

Abstract

BACKGROUND

Depending on CYP21A2 genotype, congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency leads to biochemical alterations (including hyperandrogenism, hypocortisolism, and hypoaldosteronism) and a wide spectrum of phenotypic disease manifestation. 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.

AIM

The present study evaluated sexual function, gender identification, and partner preference in women with C-CAH and NC-CAH.

METHODS

In a cross-sectional cohort analysis, 35 female patients with CAH were divided into 2 groups: C-CAH (salt-wasting/simple virilizing; n = 17) and NC-CAH (n = 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 = 13) and without acne (n = 22).

OUTCOMES

The study outcomes were sexual function and sexual distress in relation to genotype, clinical signs of androgenization, and biochemical parameters.

RESULTS

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.

CLINICAL TRANSLATION

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.

CONCLUSIONS

These data underline the importance of early diagnosis and therapy initiation, especially in patients with NC-CAH. Schernthaner-Reiter MH, Baumgartner-Parzer S, Egarter HC, et al. Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia. J Sex Med 2019;16:1529-1540.

Authors+Show Affiliations

Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Austria.Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Austria. Electronic address: sabina.baumgartner-parzer@meduniwien.ac.at.Clinical Division of Gynecologic Endocrinology and Reproductive Medicine, Department of Obstetrics and Gynecology, Medical University of Vienna, Austria.Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Austria.Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Austria.Department of Radiation Oncology, Comprehensive Cancer Center, Christian Doppler Laboratory for Medical Radiation Research for Radiation Oncology, Medical University of Vienna, Austria.Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Austria.Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Austria; Clinical Division of Gynecologic Endocrinology and Reproductive Medicine, Department of Obstetrics and Gynecology, Medical University of Vienna, Austria.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

31447379

Citation

Schernthaner-Reiter, Marie Helene, et al. "Influence of Genotype and Hyperandrogenism On Sexual Function in Women With Congenital Adrenal Hyperplasia." The Journal of Sexual Medicine, vol. 16, no. 10, 2019, pp. 1529-1540.
Schernthaner-Reiter MH, Baumgartner-Parzer S, Egarter HC, et al. Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia. J Sex Med. 2019;16(10):1529-1540.
Schernthaner-Reiter, M. H., Baumgartner-Parzer, S., Egarter, H. C., Krebs, M., Kautzky-Willer, A., Kirchheiner, K., Luger, A., & Bayerle-Eder, M. (2019). Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia. The Journal of Sexual Medicine, 16(10), 1529-1540. https://doi.org/10.1016/j.jsxm.2019.07.009
Schernthaner-Reiter MH, et al. Influence of Genotype and Hyperandrogenism On Sexual Function in Women With Congenital Adrenal Hyperplasia. J Sex Med. 2019;16(10):1529-1540. PubMed PMID: 31447379.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia. AU - Schernthaner-Reiter,Marie Helene, AU - Baumgartner-Parzer,Sabina, AU - Egarter,Hans Christian, AU - Krebs,Michael, AU - Kautzky-Willer,Alexandra, AU - Kirchheiner,Kathrin, AU - Luger,Anton, AU - Bayerle-Eder,Michaela, Y1 - 2019/08/22/ PY - 2019/01/26/received PY - 2019/07/05/revised PY - 2019/07/10/accepted PY - 2019/8/27/pubmed PY - 2020/7/7/medline PY - 2019/8/27/entrez KW - Classic Congenital Adrenal Hyperplasia KW - Gender Identification KW - Hirsutism KW - Nonclassic Congenital Adrenal Hyperplasia KW - Partner Preference KW - Sexual Function SP - 1529 EP - 1540 JF - The journal of sexual medicine JO - J Sex Med VL - 16 IS - 10 N2 - BACKGROUND: Depending on CYP21A2 genotype, congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency leads to biochemical alterations (including hyperandrogenism, hypocortisolism, and hypoaldosteronism) and a wide spectrum of phenotypic disease manifestation. 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. AIM: The present study evaluated sexual function, gender identification, and partner preference in women with C-CAH and NC-CAH. METHODS: In a cross-sectional cohort analysis, 35 female patients with CAH were divided into 2 groups: C-CAH (salt-wasting/simple virilizing; n = 17) and NC-CAH (n = 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 = 13) and without acne (n = 22). OUTCOMES: The study outcomes were sexual function and sexual distress in relation to genotype, clinical signs of androgenization, and biochemical parameters. RESULTS: 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. CLINICAL TRANSLATION: 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. CONCLUSIONS: These data underline the importance of early diagnosis and therapy initiation, especially in patients with NC-CAH. Schernthaner-Reiter MH, Baumgartner-Parzer S, Egarter HC, et al. Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia. J Sex Med 2019;16:1529-1540. SN - 1743-6109 UR - https://www.unboundmedicine.com/medline/citation/31447379/Influence_of_Genotype_and_Hyperandrogenism_on_Sexual_Function_in_Women_With_Congenital_Adrenal_Hyperplasia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1743-6095(19)31310-4 DB - PRIME DP - Unbound Medicine ER -