RT Journal Article
SR Electronic
T1 Lessons of the month 3: Mosaic Klinefelter syndrome unveiled by acute vertebral fracture in a middle-aged man
JF Clinical Medicine
JO Clin Med
FD Royal College of Physicians
SP e420
OP e422
DO 10.7861/clinmed.2021-0348
VO 21
IS 4
A1 Aye Chan Maung
A1 Jenny YC Hsieh
A1 David Carmody
A1 Swee Du Soon
YR 2021
UL http://www.rcpjournals.org/content/21/4/e420.abstract
AB Klinefelter syndrome (KS) is the most common sex chromosome disorder in males. It is the result of two or more X chromosomes in a phenotypic male. In addition to primary hypogonadism affecting male sexual development, it is associated with a series of comorbidities such as osteoporosis, psychiatric and cognitive disorders, metabolic syndromes, and autoimmune diseases. A broad spectrum of phenotypes has been described and many cases remain undiagnosed throughout their lifespan. In this case report, we describe a case of mosaic KS unmasked by acute vertebral fracture.