Variant phenotypic expression of mosaic Turner syndrome with type II MRKH (MURCS association)

BMJ Case Reports 2026

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Authors: Sudwita Sinha, Puja Vidushi, Mukta Agarwal, Upasna Sinha
DOI: 10.1136/bcr-2025-267760
Cited by: 1
References: 7

Abstract

We present a rare case of an unmarried woman in her mid-twenties with primary amenorrhoea who was found to have the unusual coexistence of mosaic Turner syndrome (45, XO/46, XX) and Mayer-Rokitansky-Küster-Hauser syndrome with MURCS association (Müllerian agenesis, Renal anomalies, Cervicothoracic Somite dysplasia). The patient exhibited normal secondary sexual characteristics and was phenotypically female. The patient underwent successful laparoscopic Davydov vaginoplasty in anticipation of marriage. This case highlights the diagnostic complexity and management challenges associated with dual congenital anomalies that affect both gonadal and Müllerian development.

Fields of Study & Subjects

Gynecological conditions and treatments Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Sexual Differentiation and Disorders

Publication details

Journal / source
BMJ Case Reports
Publisher
BMJ
Volume
19
Issue
1
Pages
e267760–e267760
Publication date
1 January 2026
Language
EN