Ontology highlight
ABSTRACT:
SUBMITTER: Han B
PROVIDER: S-EPMC7301183 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Han Bing B Cheng Tong T Zhu Hui H Yu Jie J Zhu Wen-Jiao WJ Song Huai-Dong HD Yao Haijun H Qiao Jie J
BioMed research international 20200609
<h4>Background</h4>A deficiency in steroid 5<i>α</i>-reductase type 2 is an autosomal recessive disorder. Affected individuals manifested ambiguous genitalia, which is caused by decreased dihydrotestosterone (DHT) synthesis in the fetus.<h4>Methods</h4>We analyzed 25 patients with 5<i>α</i>-reductase deficiency in China. Seventeen of the 25 patients (68%) were initially raised as females. Sixteen patients changed their social gender from female to male after puberty.<h4>Results</h4>Eighteen muta ...[more]