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Type of Mutation and Surgical Procedure Affect Long-Term Quality of Life for Women with Congenital Adrenal Hyperplasia
Abstract
CONTEXT: In congenital adrenal hyperplasia (CAH) caused by different mutations, feminizing surgery is mostly performed in childhood, and many patients are lost to follow-up. OBJECTIVE/PATIENTS: A follow-up study on 62 CAH women aged 18-63 yr and 62 age-matched controls to correlate findings of both operative method and mutation was performed. DESIGN: Semistructured interviews were performed in cases and controls, as well as a gynecological examination in the cases. The results were correlated with disease-causing mutations and earlier surgical procedures if performed. SETTING: The study was conducted at university hospital referral clinics. MAIN OUTCOME MEASURES: Gynecological examination in all cases correlated to previous surgery (n = 49), type of mutation, and questionnaire responses. RESULTS: Half of the CAH women claimed that the disease affected their sex life. The women were less satisfied with their genitals, whether operated or not. Clitoris size and functions were affected by the surgical method. Five women had a clinically evident vaginal stenosis on examination. However, almost half of patients experienced a narrow vagina. The overall psychosexual aspects of life were affected in these patients with later sexual debut, fewer pregnancies and children, and an increased incidence of homosexuality. These quality of life factors were correlated to the severity of the mutations. CONCLUSIONS: The overall quality of life in adult women with CAH is affected both by the type of mutation and operative procedure. Indications for clitoroplasty should be restrictive. Medical, surgical, and psychological treatment should be centralized.
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“After an average follow-up of 10.3 years, the majority who underwent surgery had a female gender identity (88.7%) and were heterosexual (76.2%).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [621]
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In the citing paper
“Women who underwent surgery reported a lower than optimal Female Sexual Function Index Score of 25.13 out of a maximum possible score of 36, with 26 being the threshold accepted for risk for sexual dysfunction (621).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [621]
Experimental — accuracy not yet measuredIn the citing paper
“Although in utero exposure to androgen has been shown to affect behavior with male typical behavior patterns commonly seen in classic 46,XX CAH patients, gender dysphoria is extremely rare and the recommended sex assignment of 46,XX DSD due to CAH is female.75”
From Congenital adrenal hyperplasia (2017) · cites this paper as [75]
In the citing paper
“One retrospective study documented a relative decrease in clitoral sensitivity after clitoral surgery, yet other studies have not documented any impairment in sexual function compared with that of age-matched healthy controls (280, 284-286).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [284]
In the citing paper
“However, surveys of women with CAH showed that most respondents favored genital surgery before adolescence (281, 284, 363-365), as did parents of girls with CAH (281, 285, 366).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [284]
In the citing paper
“Findings on general QOL in patients with CAH compared with controls vary widely: from better (255, 368) to comparable (369-372) to impaired (202, 284, 373-375).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [284]
In the citing paper
“Impaired QOL is more common in adults than in children and is, in some respects, associated with more severe forms of CAH (284, 369, 371) and with increased adiposity, insulin resistance, and use of prednisolone or Dex (376).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [284]
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Metadata
- Authors
- Nordenskjöld, A., Holmdahl, G., Frisén, L., Falhammar, H., Filipsson, H., Thorén, M., Janson, P. O., & Hagenfeldt, K.
- Affiliations
- Karolinska University Hospital (SE)
- Drottning Silvias barn- och ungdomssjukhus (SE)
- Danderyds sjukhus (SE)
- Sahlgrenska University Hospital (SE)
- Karolinska Institutet (SE)
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2008-02
- Volume
- 93
- Issue
- 2
- Pages
- 380-386
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2060765617
- Cited by
- 205
- References
- 35
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 10 · 2023: 9 · 2022: 8 · 2021: 12 · 2020: 20 · 2019: 10 · 2018: 14 · 2017: 9 · 2016: 2 · 2015: 11 · 2014: 14 · 2013: 20 · 2012: 14
- FWCI
- 4.63
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Karolinska Institutet
- Vetenskapsrådet
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- congenital adrenal hyperplasia, quality of life, feminizing surgery, clitoroplasty, mutation types, vaginal stenosis, sexual function, adult women, long-term follow-up
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Adult, Clitoris, Female, Humans, Middle Aged, Mutation, Psychosexual Development, Quality of Life, Steroid 21-Hydroxylase, Vagina, Case-Control Studies
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