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