Article
Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Sept 2022
Liu Qingxu, Yin Xiaoqin, Li Pin
Abstract excerpt
OBJECTIVE: 5α-Reductase type 2 (5α-RD2) deficiency causes variable degrees of undervirilization in patients. The correlation between its genotype and phenotype is unclear. METHODS: We retrospectively evaluated 103 patients with 46,XY disorders of sex development who were diagnosed with 5α-RD2 deficiency. RESULTS: The prevalence of female sex assignment (P = .008) and the incidences of cryptorchidism (P = .0003)...
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