A Rare Case of Lung Hypoplasia, Cardiac Anomalies and Ovarian Tumour in a Patient with Mayer-Rokitansky-Küster-Hauser Syndrome

Abstract

Hypoplasia of the lung is an uncommon congenital abnormality of the respiratory system in contrast to pulmonary agenesis. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the congenital absence of the upper two-thirds of the vagina and uterus with normal secondary sexual characteristics, ovary and normal karyotype. We report a 31-year-old female patient who presented in 2022 with cough with expectoration, left-side chest pain and breathlessness for 4 years to tertiary hospital, Puducherry, India. She was evaluated for amenorrhoea and diagnosed as MRKH syndrome and the patient underwent right-side oophorectomy for right ovarian torsion with a tumour. Computed tomography pulmonary angiogram and fiberoptic endoscopy were suggestive of left lung hypoplasia and the patient was advised symptomatic treatment for lung hypoplasia and planned for vaginoplasty for which she refused.

Keywords: Pulmonary Hypoplasia; Infertility; Mullerian Aplasia; Left-Sided Superior Vena Cava; Case Report; India.