Genotype-phenotype correlation and feminizing surgery in Danish children with congenital adrenal hyperplasia
Milder genotypes do not accurately predict CAH phenotype or prenatally reject serious outcomes such as virilization. The frequency of early genitoplasty is high among females with prenatal virilization. The delayed diagnosis and non-diagnosis of especially males with mild CAH advocate for a more prominent role of genetic testing in the diagnostic and screening for CAH.
Authors
- Magdalena Fossum (ORCID: https://orcid.org/0000-0002-6997-663X)
- Katharina Maria Main (ORCID: https://orcid.org/0000-0001-7259-1039)
- Marie Lind‐Holst (ORCID: https://orcid.org/0000-0003-2585-8102)
- Anders Juul (ORCID: https://orcid.org/0000-0002-0534-4350)
- Gitte M. Hvistendahl (ORCID: https://orcid.org/0000-0003-1814-4152)
- Claus Højbjerg Gravholt (ORCID: https://orcid.org/0000-0001-5924-1720)
- Niels Jørgensen (ORCID: https://orcid.org/0000-0003-4827-0838)
- Agnethe Berglund (ORCID: https://orcid.org/0000-0001-9185-1342)
- Morten Dunø (ORCID: https://orcid.org/0000-0002-8436-7744)
Institutions
- University of Copenhagen (DK)
- University of Southern Denmark (DK)
- Aarhus University (DK)
- Odense University Hospital (DK)
- Aarhus University Hospital (DK)
- Copenhagen University Hospital (DK)
Publication Details
- Journal
- Hormone Research in Paediatrics
- Published
- 2024-11-13
- DOI
- https://doi.org/10.1159/000541775
- Citations
- 2
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.47