Turner syndrome

Also known as: 45,X; Ullrich–Turner syndrome

Complete or partial absence of one X chromosome in females with short stature and ovarian failure.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: not applicable; Female: affected only; Children: yes, diagnosed in infancy to adolescence
Gene(s) involved: SHOX

Etiology & mechanism

X chromosome monosomy or mosaicism.

Gene(s) involved (1)

SHOX

Symptoms & signs (12)

coarctation of the aortacubitus valgusgonadal dysgenesishearing losslearning difficultieslow hairlinelymphedemaprimary amenorrhearenal anomaliesshield chestshort staturewebbed neck

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.