Turner syndrome
Pronunciation: TUR-ner SIN-drome
Chromosomal condition affecting females, characterized by short stature and absent or delayed puberty.
Full Definition
A genetic disorder affecting females caused by complete or partial absence of one X chromosome (45,X or mosaic patterns). Turner syndrome presents with characteristic features including short stature, webbed neck, broad chest, and absent or delayed puberty due to ovarian dysgenesis. Growth hormone deficiency is common, and most patients require growth hormone therapy to achieve normal height. Estrogen replacement therapy is typically needed to induce and maintain sexual development. Associated medical conditions may include cardiac abnormalities, kidney problems, and hearing loss, requiring multidisciplinary care.
Usage
Usage note: Always specify karyotype results when available in clinical documentation.
In Context
- "The karyotype confirmed Turner syndrome with a classic 45,X pattern." — Genetic test result
- "Girls with Turner syndrome typically require both growth hormone and estrogen replacement therapy." — Treatment guideline