A Diagnosis of Turner Syndrome in the Eighth Decade of Life.
Ruveena KaurSusannah O'SullivanPublished in: JCEM case reports (2024)
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.
Keyphrases
- bone mineral density
- induced apoptosis
- case report
- postmenopausal women
- cell cycle arrest
- healthcare
- blood pressure
- primary care
- public health
- growth hormone
- palliative care
- type diabetes
- signaling pathway
- gene expression
- body composition
- skeletal muscle
- cell proliferation
- emergency department
- single cell
- metabolic syndrome
- combination therapy
- pi k akt
- polycystic ovary syndrome