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A Diagnosis of Turner Syndrome in the Eighth Decade of Life.

Authors :
Kaur, Ruveena
O'Sullivan, Susannah
Source :
JCEM Case Reports. Jun2024, Vol. 2 Issue 6, p1-3. 3p.
Publication Year :
2024

Abstract

Turner syndrome (TS) is the most common sex chromosome disorder affecting females and is usually diagnosed within the first 3 decades of life. It can present with primary amenorrhea or infertility and often has a typical phenotype, with associated medical conditions that require lifelong surveillance. We report the case of a 76-year-old female with a history of osteoporosis and vertebral fractures who presented to our specialist osteoporosis clinic following a neck of femur fracture. She revealed a history of short stature and primary amenorrhea as a young woman, with limited investigation and treatment. Her other medical history included coeliac disease, hypertension, and hearing and vision abnormalities. Given her phenotype, the patient was referred for a karyotype at age 76, which was consistent with mosaic TS (45, X in 78% of cells and 46, X, r(Y) in the remaining cells). We review reports of other cases of marked delay in TS diagnosis and discuss the consequences of a late diagnosis. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
27551520
Volume :
2
Issue :
6
Database :
Academic Search Index
Journal :
JCEM Case Reports
Publication Type :
Academic Journal
Accession number :
178238500
Full Text :
https://doi.org/10.1210/jcemcr/luae104