MAYER-ROKITANSKY-KÜSTER-HAUSER SYNDROME IN GIRLS: CAUSES AND DIAGNOSTIC APPROACHES FOR UTERINE AND VAGINAL AGENESIS
DOI:
https://doi.org/10.37547/Keywords:
MRKH syndrome, uterine agenesis, vaginal agenesis, congenital reproductive anomalies, Müllerian duct malformations, primary amenorrhea, pediatric gynecology, early diagnosis, genetic factors, imaging techniques.Abstract
Mayer-Rokitansky-Küster-Hauser MRKH syndrome is a rare congenital anomaly affecting phenotypically female individuals, characterized by the partial or complete absence of the uterus and upper two-thirds of the vagina. Despite normal ovarian function and secondary sexual characteristics, affected girls often present during adolescence with primary amenorrhea, which frequently serves as the first clinical indicator. The etiology of MRKH syndrome is multifactorial, including genetic mutations, environmental factors, and developmental disturbances during embryogenesis of the Müllerian ducts. Early recognition of MRKH syndrome is essential not only for managing physical health but also for providing appropriate psychosocial support and reproductive counseling. Diagnostic protocols combine detailed clinical examination, imaging modalities such as ultrasonography and magnetic resonance imaging MRI, and, in select cases, genetic analysis to detect associated anomalies or familial patterns. Multidisciplinary care, involving pediatricians, gynecologists, endocrinologists, and mental health specialists, ensures comprehensive and individualized management. This review summarizes current understanding of MRKH syndrome, emphasizing pathogenesis, clinical presentation, and diagnostic strategies. Highlighting the significance of early detection, the study advocates for increased awareness among healthcare professionals and caregivers to improve long-term health outcomes and quality of life for affected girls.
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