Neurocognitive function in males with 46,XX testicular difference of sex development
Our findings indicate that 46,XX T-DSD males score significantly lower on the Working Memory Index compared to controls. No other statistically significant differences in index scores were observed, and all mean scores for both groups remained within the normal range. Larger-scale research and more comprehensive assessments of non-cognitive factors will be essential for gaining deeper insight into these findings and assessing their clinical significance.
Authors
- Sandra Laurentino (ORCID: https://orcid.org/0000-0002-5213-2756)
- Cecilie R. Buskbjerg (ORCID: https://orcid.org/0000-0002-5997-8973)
- Lukas Ochsner Reynaud Ridder (ORCID: https://orcid.org/0000-0003-1110-748X)
- Anne Skakkebæk (ORCID: https://orcid.org/0000-0001-9178-4901)
- Claus Højbjerg Gravholt (ORCID: https://orcid.org/0000-0001-5924-1720)
- Etki Albayrak Rasborg Hartogsohn (ORCID: https://orcid.org/0000-0002-5752-5372)
- Mirkka Hiort
- Jens Fedder (ORCID: https://orcid.org/0000-0001-5383-5501)
- Agnethe Berglund (ORCID: https://orcid.org/0000-0001-9185-1342)
- Julia Rohayem (ORCID: https://orcid.org/0000-0002-7790-6631)
- Silke Jörgens (ORCID: https://orcid.org/0000-0001-8358-2744)
- Jörg Gromoll
Institutions
- University of Southern Denmark (DK)
- Aarhus University (DK)
- University of Münster (DE)
- Odense University Hospital (DK)
- Aarhus University Hospital (DK)
- Institute of Human Genetics (PL)
- Institute of Reproductive Medicine (IN)
- Ostschweizer Kinderspital (CH)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-11-25
- DOI
- https://doi.org/10.1186/s13023-025-04126-z
- Primary Topic
- Hypothalamic control of reproductive hormones
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Novo Nordisk
- A.P. Møller og Hustru Chastine Mc-Kinney Møllers Fond til almene Formaal
- Familien Hede Nielsens Fond
- Novo Nordisk Fonden