Article
Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis.
Reproductive biology and endocrinology : RB&E - 11 Nov 2024
Ding Leilei, Deng Shan, Zhang Pan, Zhang Duoduo, Tian Qinjie
Abstract excerpt
BACKGROUND: 46,XX complete gonadal dysgenesis (46,XX-CGD) is a rare disorder of sexual development (DSD) characterized by primary amenorrhea and a lack of spontaneous pubertal development in individuals with a 46,XX karyotype despite the presence of female internal and external genitalia due to failure of bilateral ovarian development. The condition is genetically heterogeneous, and in most cases, its etiology is...
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