Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia
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Objective: Fertility in males with congenital adrenal hyperplasia (CAH) is reported from normal to severely impaired. Therefore, we investigated fertility/fecundity, social/sexual situation, and pituitary–gonadal function in CAH males. Subjects and methods: The patient cohort comprised 30 males, aged 19–67 years, with 21-hydroxylase deficiency. Their fertility was compared with age-matched national population data. For the evaluation of social/sexual factors and hormone status, age-matched controls were recruited ( n =32). Subgroups of different ages (<30 years and older) and CYP21A2 genotypes (null (severe salt-wasting (SW)), I2splice (milder SW), and I172N (simple virilizing)) were also studied. Patients underwent testicular ultrasound examination ( n =21) and semen analysis ( n =14). Results: Fertility was impaired in CAH males compared with national data (0.9±1.3 vs 1.8±0.5 children/father, P <0.001). There were no major differences in social and sexual factors between patients and controls apart from more fecundity problems, particularly in the I172N group. The patients had lower testosterone/estradiol (E 2 ) ratio and inhibin B, and higher FSH. The semen samples were pathological in 43% (6/14) of patients and sperm concentration correlated with inhibin B and FSH. Testicular adrenal rest tumors (TARTs) were found in 86% (18/21). Functional testicular volume correlated positively with the testosterone/E 2 ratio, sperm concentration, and inhibin B. Patients with pathological semen had increased fat mass and indications of increased cardiometabolic risk. Conclusions: Fertility/fecundity was impaired in CAH males. The frequent occurrence of TARTs resulting in testicular insufficiency appears to be the major cause, but other factors such as elevated fat mass may contribute to a low semen quality.
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One randomized study in 30 women with NC CAH found cyproterone acetate to be more effective than hydrocortisone for isolated hirsutism.
“One randomized study in 30 women with NC CAH found cyproterone acetate to be more effective than hydrocortisone for isolated hirsutism (435).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [435]
The Subjects and methods and Results (Characteristics of the patients and controls; page unavailable) describe an observational study of adult males with CAH, including 30 in the analysis. Searches for cyproterone acetate, hydrocortisone, hirsutism, and a randomized trial in women found no passage in our copy reporting the claimed comparison. (LLM, conf=0.78)
Experimental — accuracy not yet measuredThe prevalence of TART is between 44-94% of men with classic 21OH.
“The prevalence of TART is between 44-94% of men 98,107,114,115”
From Congenital adrenal hyperplasia (2017) · cites this paper as [115]
Fertility in males with CAH is often impaired.
“Fertility in males with CAH is often impaired (226, 237, 248-250).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [237]
Testicular adrenal rest tumors in men with NCCAH are extremely rare.
“Available data indicate that TARTs in men with NCCAH are extremely rare (237); consequently, prophylactic GCs do not seem to be warranted in these men.”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [237]
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- Authors
- Falhammar, H., Nyström, H. F., Ekström, U., Granberg, S., Wedell, A., & Thorén, M.
- Affiliations
- Karolinska University Hospital (SE)
- Sahlgrenska University Hospital (SE)
- Corresponding author
- Falhammar, Henrik
- Venue
- European Journal of Endocrinology
- Publisher
- Oxford University Press (OUP)
- Published
- 2012-03
- Volume
- 166
- Issue
- 3
- Pages
- 441-449
- ISSN
- 0804-4643 (ISSN-L)
- 1479-683X
- PMC
- PMC3290120
- OpenAlex
- W2146885061
- Cited by
- 170
- References
- 33
- Citations by year
- 2026: 7 · 2025: 6 · 2024: 8 · 2023: 13 · 2022: 10 · 2021: 11 · 2020: 12 · 2019: 15 · 2018: 16 · 2017: 12 · 2016: 10 · 2015: 14 · 2014: 10 · 2013: 14 · 2012: 9
- FWCI
- 4.55
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- European Journal of Endocrinology (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Karolinska Institutet
- Stockholms Läns Landsting
- Vetenskapsrådet (12198)
- 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, 21-hydroxylase deficiency, male fertility, fecundity, testicular adrenal rest tumor, testicular insufficiency, semen quality, testosterone/estradiol ratio, inhibin B, follicle-stimulating hormone, salt-wasting phenotype, fat mass, cardiometabolic risk, pituitary-gonadal function
- MeSH terms
- Adrenal Hyperplasia, Congenital, Adrenal Rest Tumor, Adult, Age Factors, Aged, Humans, Infertility, Male, Male, Middle Aged, Registries, Ultrasonography, 3-Hydroxysteroid Dehydrogenases, Cohort Studies, Case-Control Studies, Sexuality
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