Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population
نویسندگان
چکیده
منابع مشابه
Genetic sequencing of a patient with Kallmann syndrome plus 5α-reductase type 2 deficiency
and 6.78 at baseline, and 4.41 ug l−1, 168.5 ug l−1, and 26.40 after human chorionic gonadotropin (HCG) stimulation, respectively. Other hypothalamic-pituitary-axes' functions were normal. The patient was treated with HCG 2000 U i.m. 3 times every week for 9 months, and then human menopausal gonadotropin (HMG) 75 U i.m. was added 3 times a week for another 3 months. Mild Dear Editor, Kallmann s...
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A rare form of the 46,XY disorders of sex development (DSD), 5a-reductase deficiency was first described in patients with pseudovaginal perineoscrotal hypospadias, microphallus, and cryptorchid testes in 1974 by Imperato. This undervirilization in the male is due to an alteration in the 5a-reductase type 2 gene (SRD5A2), which encodes for 5areductase activity. Our registry of 750 patients with ...
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ژورنال
عنوان ژورنال: BioMed Research International
سال: 2020
ISSN: 2314-6133,2314-6141
DOI: 10.1155/2020/1789514