Mullerian Agenesis Associated with Turner’s Syndrome
Published: February 1, 2017 | DOI: https://doi.org/10.7860/JCDR/2017/23305.9157
Padmanabhan Elamparidhi, Rudrappa Ramesh Kumar,
Selvakkalanjiyam Sivaranjinie, Rajakumar Sibhithran
1. Senior Resident, Department of Radio-Diagnosis, Sri Manakula Vinayagar Medical College and Hospital, Madagadipet, Puducherry, India.
2. Professor & Head of the Department, Department of Radio-Diagnosis, Sri Manakula Vinayagar Medical College and Hospital, Madagadipet, Puducherry, India.
3. Junior Resident, Department of Radio-Diagnosis, Sri Manakula Vinayagar Medical College and Hospital, Madagadipet, Puducherry, India.
4. Junior Resident, Department of Radio-Diagnosis, Sri Manakula Vinayagar Medical College and Hospital, Madagadipet, Puducherry, India.
Correspondence Address :
Dr. Padmanabhan Elamparidhi,
Department of Radio-Diagnosis, Sri Manakula Vinayagar Medical college and Hospital, Madagadipet, Puducherry- 605107, India.
E-mail: pepsantosh@gmail.com
Abstract
Turner’s syndrome is a chromosomal disorder with 45 X0 due to absence of a set of gene from the short arm of X chromosome. The incidence of Turner’s syndrome is 1 in 2500 live births. Primary amenorrhea is well known in Turner’s syndrome, the reason being streak ovaries; but mullerian agenesis as a cause of primary amenorrhea in Turner’s syndrome is a very rare entity. The incidence of Turner’s syndrome associated with mullerian agenesis is extremely rare as there is only a hand full of cases reported in literature. We report a rare case of adolescent female who presented with primary amenorrhea and found to have Turner’s syndrome with mullerian agenesis.
Keywords
Gonadal dysgenesis, Missing X chromosome, Mullerian development, Mullerian anomaly, Sex chromosome