Turner syndrome (TS) is a chromosomal disorder often referred to as congenital ovarian hypoplasia syndrome. It is monosomy or a genetic condition where a female has 45 instead of 46 chromosomes with the X-Chromosome partially or completely missing. This condition affects only females. Dr Henry Turner first discovered Turner syndrome in 1938. A group of 7 girls were studied regarding abnormal physical and developmental anomalies, which led to the condition’s discovery. Doctors also commonly call it gonadal dysgenesis.
Symptoms and distinctive features:
- Droopy eyes
- Low set ears
- Increased angulation in the elbow
- Upward turned fingernails/toenails
- Scoliosis
- Flat feet
- Excess skin on the neck
Apart from the features mentioned above, it also causes functional abnormalities in the ovaries leading to irregular estrogen production. Consequently, irregular/absent periods, osteoporosis, infertility, and early menopause are some of the common symptoms observed.
Here’s a list of the endocrinopathies faced by approximate percentage of TS patients:
Glucose intolerance – 15-50%
Diabetes – 10-15%
Thyreoditis – 15%
Elevated hepatic enzymes – 50-80%
Hypertension – 50%
Primary amenhorrea – 85%
Infertility – 98%
In India, 1 in 2500 females is born with TS. Around 5200 TS girls are born in India every year. However, lack of measurable resources, paucity of medical literature and negligible health records suggest that many patients go undetected.
Management and treatment
Specialists often advise hormonal therapy to cope and relieve symptoms caused by endocrinopathies. Human growth hormone, estrogen and cyclic progestrins are administered from time to time. This therapy allows the induction of puberty in conjunction with the patient’s peers. Superspecilaists like cardiologists, gynaecologists, otarynlogists, psychologists and diabetologists can help the patient in such a way that they can avoid problems at school because of delayed physical and psychological issues.
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