A Diagnosis of Turner Syndrome in the Eighth Decade of Life

TL;DR

A 76-year-old woman was diagnosed with Turner syndrome, a condition typically diagnosed earlier, highlighting the possibility of delayed diagnosis and its implications.

Contribution

This case report adds to the understanding of late-diagnosed Turner syndrome and its associated medical complexities in elderly patients.

Findings

Turner syndrome was diagnosed in a 76-year-old woman through karyotype analysis.

The patient exhibited a mosaic karyotype with 78% 45,X cells and 22% 46,X,r(Y) cells.

Late diagnosis of Turner syndrome can occur even in elderly patients with a history of unexplained symptoms.

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.