Open Access2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report
Author(s) -
Ning Xi,
Xiao Song,
Xueyan Wang,
Shengfang Qin,
Guannan He,
Limei Sun,
Ximin Chen
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i23.6789
Subject(s) - medicine , genetic counseling , genetic testing , carrier testing , genetics , prenatal diagnosis , biology , pregnancy , fetus
CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity, leading to development of congenital adrenal hyperplasia (CAH) with different clinical phenotypes. For families with CAH children, genetic testing of the parents and genetic counseling are recommended to assess the risk of recurrence.