Turner Syndrome (45X0)
Short female is considered Turner syndrome until otherwise is proved.
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The frequency is approximately 1 in 2000 live-born female infants.
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As many as 15 % of spontaneous abortions have a 45,X karyotype.
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Turner syndrome is caused by the absence of one set of genes from the short arm of one X chromosome.
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45,X karyotype (about two thirds are missing the paternal X chromosome)
Clinical Presentation
- Short stature
- Lymphedema of hands & feet
- Shield chest
- Cubitus valgus
- Low posterior hairline
- Posterior rotated ears
- Webbed neck
- Short 4 th metacarpal bone
- Normal intelligence (except Math)
- Short stature (SHOX gene)
- Ovarian dysgenesis (High FSH ,High FSH/LH ,Low estradiol
Cardiac defect:
- Bicuspid aortic valve,
- Coarctation of aorta
Common renal anomaly:
- Horseshoe kidney,
- Double collecting system
Increased risk of:
- Hypothyroidism, Hashimoto disease, Celiac disease, Inflammatory bowel disease, Gonadoblastoma
Treatment
- Growth hormone
- Estrogen therapy
The woman on the left has marked short stature but no other clinical features, the adorescent female on the right has neck webbing and has received growth hormone and is 150 cm in height.
