Inevitable Posterior Lower Segment Cesarean Section Due to Irreducible Uterine Torsion in a Woman Carrying X-Linked Myotubular Myopathy: A Case Report.

We report a 38-year-old woman with secondary infertility who became pregnant by in vitro fertilization (IVF). Her pregnancy was complicated by significant and advanced polyhydramnios. At 37 weeks and five days, she was in labor with an unstable fetal condition, and an emergency cesarean section (CS) was required. The intraoperative findings showed 180° uterine torsion, which could not be reduced. A lower posterior transverse hysterectomy was successful in delivering the newborn. The male newborn exhibited severe hypotonia and respiratory failure and was subsequently diagnosed with X-linked myotubular myopathy (XLMTM) via whole exome sequencing (WES), which identified a pathogenic myotubularin 1 (MTM1) gene mutation. Maternal testing confirmed her status as an asymptomatic carrier. This case highlights the profound diagnostic and surgical challenges of uterine torsion. It posits a dual-hit model for its etiology, where fetal XLMTM caused polyhydramnios, the primary mechanical risk factor, while the maternal genetic carrier status is proposed as a novel, speculative hypothesis for a potential underlying predisposition to uterine instability. This observation requires further research to explore the possible genetic contribution to this rare obstetric emergency.