30/11/2025
TURNER SYNDROME (45,X) :
A chromosomal disorder affecting females, caused by partial or complete monosomy of the X chromosome.
ETIOLOGY
• Usually 45,X (complete monosomy).
• Mosaicism: 45,X/46,XX or 45,X/46,XY.
• Structural abnormalities: isochromosome, ring chromosome, deletions of Xp.
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CLINICAL FEATURES
1. Physical Features
• Short stature (most common).
• Webbed neck (pterygium colli).
• Broad chest with widely spaced ni***es.
• Cubitus valgus (wide carrying angle).
• Low posterior hairline.
• Lymphedema of hands/feet in newborns.
• Shield chest.
• Short 4th metacarpal.
2. Gonadal / Reproductive
• Streak ovaries → ovarian failure.
• Primary amenorrhea.
• Infertility.
• Lack of secondary sexual characteristics (little breast development).
3. Cardiovascular
• Coarctation of aorta.
• Bicuspid aortic valve.
• Increased risk of aortic dissection.
4. Renal
• Horseshoe kidney.
• Duplicated collecting system.
• Abnormal renal vasculature.
5. Endocrine
• Hypothyroidism (Hashimoto).
• Glucose intolerance / Type 2 diabetes.
• Obesity.
• Osteoporosis due to estrogen deficiency.
6. Others
• Normal intelligence but learning difficulties, especially spatial and math skills.
• Hearing loss (sensorineural).
• Recurrent otitis media.
• Pigmented nevi.
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DIAGNOSIS
Investigations
• Karyotype → confirms monosomy X / mosaicism.
• FSH, LH → elevated (hypergonadotropic hypogonadism).
• Estradiol → low.
• Echocardiogram → check for CV anomalies.
• Renal ultrasound.
• Thyroid function tests.
Prenatal diagnosis
• Nuchal translucency increased.
• Cystic hygroma.
• Confirmed by amniocentesis / CVS karyotype.
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MANAGEMENT
1. Growth
• Growth hormone therapy early to improve final height.
2. Puberty induction
• Estrogen replacement at puberty age → breast development.
• Add progesterone later for menstruation.
3. Fertility
• Usually infertile.
• IVF with donor oocytes may be possible (cardiac evaluation required).
4. Cardiac & Renal care
• Annual cardiology follow-up.
• Regular renal monitoring.
5. Endocrine care
• Treat hypothyroidism, glucose issues.
• Bone density monitoring.
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PROGNOSIS
• With proper management, normal life expectancy.
• Risks: aortic dissection, infertility, osteoporosis.