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Cited by 205Sexual Differentiation and DisordersAdrenal Hormones and DisordersOvarian function and disorders

Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia

Nordenskjöld, Agneta, Holmdahl, Gundela, Frisén, Louise, Falhammar, Henrik, Filipsson, Helena, Thorén, Marja, Janson, Per Olof, Hagenfeldt, Kerstin·2008·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jc.2007-0556
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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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Crossref · 10.1210/jc.2007-0556

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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%).

    “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]

    The Surgery section reports that 49 women with congenital adrenal hyperplasia underwent surgery, and the self-report results say a majority of CAH women who answered the question were heterosexual (41 of 52, 80%). That percentage is for the CAH group, not specifically those who underwent surgery. The copy does not report a mean follow-up of 10.3 years or an 88.7% female-gender-identity result, and its heterosexuality figure differs from 76.2%. (LLM, conf=0.88)

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  • 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.

    “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]

    The Subjects and Methods section describes a 120-question semistructured questionnaire, while Table 2 reports outcomes such as orgasm and satisfaction with surgery. Searches for the Female Sexual Function Index, 25.13, and a dysfunction threshold of 26 found no passage reporting the claimed score or cutoff. (LLM, conf=0.78)

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  • 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.

    “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]

  • One retrospective study documented a relative decrease in clitoral sensitivity after clitoral surgery, but other studies did not document impairment in sexual function compared with age-matched healthy controls.

    “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 surveys, most women with CAH and most parents of girls with CAH favored genital surgery before adolescence.

    “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]

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Research works printed but not linked: 1

  1. Houk CP, Hughes IA, Ahmed SF, Lee PA, Writing Committee for the Inter- national Intersex Consensus conference Participants 2006 Summary of con- sensus statement on intersex disorders and their treatment. Pediatrics 118: 753-757

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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)
ORCID
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
DOI
10.1210/jc.2007-0556
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
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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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