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Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications

18 Apr 2024

Abstract excerpt

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by agenesis/aplasia of the uterus and upper part of the vagina in females with normal external genitalia and a normal female karyotype (46,XX). Patients typically present during adolescence with complaints of primary amenorrhea where the diagnosis is established with significant implications including absolute infertility. Most...

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PMID: 38699388
DOI: 10.3389/fendo.2024.1368990

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