A rare case of combination trichorinophalangeal syndrome and Mayer-Rokitansky-Küster-Hauser syndrome

Abstract

Two forms of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome are recognized: isolated uterovaginal agenesis and associated with extragenital malformations, including several well-recognized syndromes. Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant condition characterized by facial dysmorphism, ectodermal and skeletal features. TRPS comprises TRPSI (caused by a heterozygous pathogenic variant in TRPS1), TRPSII (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Genital anomalies occur particularly in TRPSII. We present a case of rare combination TRPSII with MRKH syndrome. Delayed diagnosis resulted to prolonged pain syndrome and repeated surgery. Recognition of genital anomalies in TRPS allows timely referral diagnosis and appropriate care by paediatrician and adolescent gynaecologists.