A rare case report of Turner's syndrome with Mullerian agenesis

Abstract

Amenorrhea is the absence of menstrual blood flow. Primary amenorrhea should be considered in a patient with secondary sex characteristics who has not experienced periodic menstruation by 16 years of age or 5 years after breast development. Patients who have not developed secondary sex characteristics, especially the absence of breast development, and have not established periodic menstruation by age 13 should also be worked up for primary amenorrhea1. Turner’s syndrome (TS) also called as Ullrich Turner’s syndrome, is a disease of unclear pathogenesis characterized by complete or partial absence of one sex chromosome, with or without cell line mosaicism in a phenotypic female with short stature and primary ovarian insufficiency. However, TS may also involve other complaints including lymphedema, autoimmune diseases, metabolic diseases, cardiac, kidney and bone anomalies, hearing loss, and neurocognitive difficulties which lead to psychosocial and educational inadaptation. Optimizing health care is crucial to allow these individuals succeed in their full potential. In this regard this is a rare case report of Turner’s syndrome with Mullerian Agenesis.