| Autor: |
Ngee Lek, Rieko Tadokoro-Cuccaro, Jonathan B. Whitchurch, Bismoy Mazumder, Harriet Miles, Philippa Prentice, Trevor Bunch, Karolina Zielińska, Veronika Metzler, Nigel P. Mongan, David M. Heery, Ieuan A. Hughes |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
EBioMedicine, Vol 36, Iss , Pp 401-409 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
2352-3964 |
| DOI: |
10.1016/j.ebiom.2018.09.047 |
| Popis: |
Background: PAIS exhibits a complex spectrum of phenotypes and pubertal outcomes. The paucity of reliable prognostic indicators can confound management decisions including sex-of-rearing. We assessed whether external masculinisation score (EMS) at birth or functional assays correlates with pubertal outcome in PAIS patients and whether the EMS is helpful in sex assignment. Methods: We collected pubertal outcome data for 27 male-assigned PAIS patients, all with confirmed androgen receptor (AR) mutations, including two previously uncharacterized variants (I899F; Y916C). Patients were grouped as follows; EMS at birth |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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