[Type II Leydig cell hypoplasia caused by

• Tác giả: Xian-Ping Jiang, Yan-Hua Jiao, Ke-Xin Jin, Jia-Qiang Li, Li-Li Pan, Zhe Su, Jian-Chun Yin
• Ngôn ngữ: eng
• Ký hiệu phân loại: 676.127 Semichemical process
• Thông tin xuất bản: China : Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics , 2025
• Bộ sưu tập: NCBI
• ID: 468780

Tóm tắt

 The patient, assigned female at birth and aged 1 year and 7 months, presented with clinical manifestations of 46,XY disorders of sex development. The external genitalia exhibited a severely undermasculinized phenotype. Laboratory tests and gonadal biopsy indicated poor Leydig cell function and good Sertoli cell function. Genetic testing revealed compound heterozygous mutations of c.867-2A>
 C and c.547G>
 A (p.G183R) in the