Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing
Ewa Błaszczyk, Małgorzata Więcek, Aleksandra Jazela-Stanek, Grzegorz Kudela, Tomasz Koszutski, Karolina Kowalczyk, Jagoda Sikora, Agnieszka Wiernik, Małgorzata Żarczyńska, Wiktoria Kempińska, Agnieszka Bielska-Brodziak, Aneta Gawlik-Starzyk · 2026
Read Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing by Ewa Błaszczyk, Małgorzata Więcek, Aleksandra Jazela-Stanek, Grzegorz Kudela, Tomasz Koszutski, Karolina Kowalczyk, Jagoda Sikora, Agnieszka Wiernik, Małgorzata Żarczyńska, Wiktoria Kempińska, Agnieszka Bielska-Brodziak, Aneta Gawlik-Starzyk (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13322092.txt.
Description
Ewa Błaszczyk and colleagues use whole exome sequencing to clarify disorders of sex development in a 2026 study. Children with a 46,XY karyotype and atypical urogenital development form a rare, mixed group, and about half of cases stay unexplained despite gene testing. The team sequenced 39 carefully assessed children aged 0.2 to 17.9 years.
A clear genetic cause was found in 8 children, with firm harmful variants in 3, touching the AR and DHX37 genes among others. Likely harmful variants appeared in 5 more children, and uncertain variants in 7. Androgen insensitivity was the most common confirmed cause. Many cases still lacked any known candidate variant.
Catalog record
| CREATOR | Ewa Błaszczyk, Małgorzata Więcek, Aleksandra Jazela-Stanek, Grzegorz Kudela, Tomasz Koszutski, Karolina Kowalczyk, Jagoda Sikora, Agnieszka Wiernik, Małgorzata Żarczyńska, Wiktoria Kempińska, Agnieszka Bielska-Brodziak, Aneta Gawlik-Starzyk |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 55889 |
| LICENSE | https://creativecommons.org/publicdomain/zero/1.0 |
| RIGHTS | CC0 |
| SOURCE | Europe PMC |