第一例成人细胞色素P450氧化还原酶缺乏伴足精液量和精子浓度。

IF 1.3 4区医学 Q3 PEDIATRICS

Congenital Anomalies Pub Date : 2022-05-01 Epub Date: 2022-03-25 DOI:10.1111/cga.12464

Takeshi Sato, Tomohiro Ishii, Maki Fukami, Tsutomu Ogata, Tomonobu Hasegawa

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The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration.

Cytochrome P450 oxidoreductase deficiency (PORD) is an autosomal recessive disorder and characterized by variable clinical manifesta-tions, including adrenal insufficiency, undervirilization of an individual with the 46,XY karyotype, and bone deformity, owing to impairment of steroid synthesis and cholesterol metabolism. Regarding androgen production capacity, male patients with PORD develop variable puberty, from delayed to spontaneous puber-tal development. 1 To date, studies on spermatogenesis in PORD are scarce. One adult patient with PORD has been reported to develop azoospermia. 2 Another patient showed compromised spermatogenesis on testicular biopsy. 1 Here, we present the case of an adult PORD patient with sufficient semen volume and sperm concentration. arachnodactyly, joint

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来源期刊

Congenital Anomalies PEDIATRICS-

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Congenital Anomalies is the official English language journal of the Japanese Teratology Society, and publishes original articles in laboratory as well as clinical research in all areas of abnormal development and related fields, from all over the world. Although contributions by members of the teratology societies affiliated with The International Federation of Teratology Societies are given priority, contributions from non-members are welcomed.