A RARE CASE OF OVARIAN AGENESIS AND HYPOPLASTIC UTERUS IN A PREPUBERTALGIRL WITH NORMAL 46, XX KARYOTYPE

Abstract

Delayed onset of puberty and primary amenorrhea pose diagnostic challenges, often associated with diverse etiologies including hypothalamic-pituitary disorders, gonadal dysgenesis, and müllerian duct malformations.Historically, such syndromes have been associated with XY chromosomal components, but rare cases in karyotypically normal females (46, XX) have been reported. Comparisons with similar cases, including atypical forms of Mayer-Rokitansky-Küster-Hauser (MRKH) syndromeare made, highlighting the rarity of this condition. Despite advancements, the genetic basis remains unspecified, underscoring the need for further research. We present a unique case of gonadal agenesis and hypoplastic uterus in a 46,XX individual, without associated organ system anomalies, contributing to primary amenorrhea. Diagnostic evaluations including hormonal assessment, and pelvic MRI confirmed the absence of ovaries and severe hypoplasia of paramesonephric duct (PMND) derivatives. Treatment with 17beta estradiol successfully induced puberty, highlighting the clinical importance of timely intervention. Early detection of such cases is crucial for providing comprehensive support and improving patient outcomes.