Turners syndrome (Children)
Related Subjects:
| Osteoporosis
| Autosomal Dominant
| Autosomal Recessive
| X Linked Recessive
|Dementias
|Chromosomal Defects
|Turner's syndrome (Children)
👧 Turner Syndrome (45,XO) is a chromosomal disorder affecting only females, caused by the complete or partial absence of one X chromosome.
Because they have only one X, girls with Turner syndrome are more vulnerable to X-linked conditions (e.g., haemophilia, Duchenne muscular dystrophy).
Despite this, with appropriate treatment and multidisciplinary care, many individuals live normal and fulfilling lives.
📖 About
- Prevalence: ~1 in 2,500 female live births.
- Most cases are non-mosaic 45,XO, but mosaic forms (45,X/46,XX or 45,X/46,XY) exist and can modify phenotype.
- Short stature and gonadal dysgenesis are cardinal features.
- Unlike Down syndrome, Turner syndrome does not affect overall intelligence, though specific neurocognitive domains may be impaired.
🫀 Cardiovascular Manifestations
- Bicuspid aortic valve (commonest cardiac anomaly).
- Coarctation of the aorta → systemic hypertension in childhood/adulthood.
- Aortic root dilatation & dissection risk: necessitates lifelong surveillance with echocardiography or MRI.
- Other associations: elongated transverse aortic arch, mitral valve prolapse.
👩 Clinical Features
- Growth: Short stature (median adult height ~147 cm). GH therapy can help.
- Craniofacial & Skeletal: Webbed neck, low posterior hairline, shield-shaped chest, widely spaced nipples, cubitus valgus (wide carrying angle), high palate, short 4th metacarpal.
- Lymphatic anomalies: Neonatal hand/foot oedema, congenital lymphedema.
- Ears/Hearing: Recurrent otitis media, conductive & sensorineural hearing loss.
- Neurocognitive: Average intelligence but impaired visuospatial skills, mathematics, and social cognition.
- Other: Hypothyroidism (autoimmune thyroiditis common), pigmented naevi, keloid tendency.
🧬 Endocrine & Reproductive
- Gonadal dysgenesis: Streak ovaries → primary ovarian failure.
- Pubertal delay: Absent or incomplete puberty without HRT.
- Infertility: Nearly universal, though assisted reproduction with donor oocytes is possible.
- Hormonal effects: Low oestrogen → risk of osteopenia/osteoporosis, metabolic syndrome, and early cardiovascular disease.
🧪 Investigations
- Karyotype analysis: Confirms diagnosis (45,X or mosaicism).
- Cardiac imaging: Echocardiogram or MRI at baseline and repeated surveillance.
- Endocrine screen: FSH/LH (raised), oestradiol (low), thyroid function tests, glucose tolerance, and bone density scans.
- Renal ultrasound: Horseshoe kidney and other anomalies in ~30% of cases.
⚕️ Management
- Growth Hormone Therapy: Early initiation can increase final height by 5–10 cm.
- Oestrogen Replacement: Begin around age 12–14 to induce puberty; later add progesterone for cycle control and endometrial protection.
- Fertility & Pregnancy: Specialist reproductive counselling; donor oocyte IVF possible but pregnancy carries high risk of aortic dissection – needs pre-conception cardiac review.
- Gonadectomy: Essential in 45,X/46,XY mosaics due to risk of gonadoblastoma.
- Multidisciplinary care: Endocrinology, cardiology, audiology, nephrology, and psychology input.
- Psychosocial support: Tailored educational help and counselling for self-esteem and social integration.
📌 Prognosis
With modern endocrine replacement and cardiac monitoring, life expectancy is near-normal.
Major morbidity arises from aortic disease, osteoporosis, and infertility.
Quality of life can be excellent with early diagnosis, proactive management, and strong psychosocial support.
📚 References
