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Mosaicism Triple X Syndrome in a Young Woman Presenting as Primary Amenorrhea with Short Stature
Kishore Kumar Behera
1
, Jasmina Begum
2
, Debasish Hota
3
Departments of
1
Endocrinology,
2
Obstetrics and Gynacology,
3
Pharmacology, 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
Abstract
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.
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Last updated on Jul 16, 2025