About the Journal | Editorial Board | Instructions to Contributors | Submission & Review | Advertise with Us | Subscribe to E- Alerts
Sitemap | Feedback
Advanced search
Journal of Case Reports
Mosaicism Triple X Syndrome in a Young Woman Presenting as Primary Amenorrhea with Short Stature
Kishore Kumar Behera1, Jasmina Begum2, Debasish Hota3
Departments of 1Endocrinology, 2Obstetrics and Gynacology, 3Pharmacology, All India Institute of Medical Sciences, Bhubaneswar-751019, India.
Corresponding Author:
Dr Kishore Kumar Behera
Email: kkbaims@gmail.com
Received: 11-AUG-2020 Accepted: 21-OCT-2020 Published Online: 10-JAN-2021
DOI: http://dx.doi.org/10.17659/01.2021.0002
Background: Primary ovarian failure (POF) as a presentation of Triple X syndrome constitutes only 3.8% of cases in the literature. POF may be the presenting symptom in up to 10% of cases of primary amenorrhea. There is no consensus guideline on their management. Case Report: A 24-year-old woman was referred to our institute for the evaluation of primary amenorrhea. She was short stature with poor development of secondary sexual characters. The cytogenetic evaluation revealed mosaicism of 46,XX/47,XXX. Her luteinizing hormone (LH) was (51.84 mIU/mL) and follicle-stimulating hormone (FSH) was (119.58 mIU/mL) suggesting premature ovarian insufficiency. Most of the subjects presented in the literature were having normal stature. Our case was different from the other being short stature with mosaicism of 46,XX/47,XXX with normal scholastic performance. Conclusion: This case can stress upon the utility of chromosomal karyotype in women presenting with primary amenorrhea with POF.
Keywords : Amenorrhea Cytogenetic Analysis, Karyotype, Mosaicism Triple X syndrome, Trisomy.
Article Options
Search PubMed for
Search Google Scholar for
Article Statistics
Bookmark and Share