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Turner syndrome
Turner syndrome is a chromosomal disorder that affects development in females. It results when a female's cells have one normal X chromosome and the other sex chromosome is either missing or structurally altered
Prevalence
1 / 2 000
33,100-165,500
US Estimated
51,350-256,750
Europe Estimated
Age of Onset
Infancy
ICD-10
Q96.0
Q96.1
Q96.2
Q96.3
Q96.4
Q96.8
Q96.9
Inheritance Pattern
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Turner syndrome is a chromosomal disorder affecting females, caused by complete or partial monosomy of the X chromosome (most commonly 45,X)
FACT
It is characterized by short stature and gonadal dysgenesis, leading to delayed or absent puberty and primary ovarian insufficiency
FACT
Common physical features include webbed neck, low posterior hairline, broad chest with widely spaced nipples, and lymphedema of the hands and feet (especially in infancy)
FACT
Individuals are at increased risk for congenital heart defects (e.g., bicuspid aortic valve, coarctation of the aorta), renal anomalies, and endocrine disorders such as hypothyroidism
FACT
5
Management includes growth hormone therapy for height optimization and estrogen replacement for pubertal development, along with lifelong multidisciplinary monitoring for associated complications
Interest over time
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Common signs & symptoms
Short stature
Delayed puberty
Infertility
Webbed neck
Cardiac anomalies (e.g., coarctation of the aorta)
Current treatments
Growth hormone therapy
Estrogen replacement therapy
Management of cardiac and endocrine issues
References:
Gravholt CH, et al. Turner syndrome. Nat Rev Dis Primers. 2019.
Bondy CA. Care of girls and women with Turner syndrome. J Clin Endocrinol Metab. 2007.