BMJ Case Rep. 2026 Jan 7;19(1):e267760. doi: 10.1136/bcr-2025-267760.
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.
PMID:41500704 | DOI:10.1136/bcr-2025-267760