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Cited by 170Sexual Differentiation and DisordersAdrenal Hormones and DisordersOvarian function and disorders

The DOI matches its Crossref record; 32 of the 33 references it cites were found in a registry or an index.

Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

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Falhammar, Henrik, Nyström, Helena Filipsson, Ekström, Urban, Granberg, Seth, Wedell, Anna, Thorén, Marja·2012·European Journal of Endocrinology
DOI 10.1530/eje-11-0828PMC PMC3290120
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Abstract

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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Research works printed but not linked: 3

  1. Cabrera, 2001, Journal of Clinical Endocrinology & Metabolism, 86, 3070, 10.1210/jc.86.7.3070 · DOI
  2. Stikkelbroeck, 2001, Journal of Clinical Endocrinology & Metabolism, 86, 5721, 10.1210/jc.86.12.5721 · DOI · Paper page
  3. Vermeulen, 1999, Journal of Clinical Endocrinology & Metabolism, 84, 3666, 10.1210/jc.84.10.3666 · DOI · Paper page

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Metadata

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
ORCID
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
DOI
10.1530/eje-11-0828
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
Licence
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
  • 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, 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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