Q1) What is Turner Syndrome?
A1) Turner syndrome is one of the most common chromosomal anomalies and affects 25–50 per 100,000 girls, irrespective of ethnicity. Turner syndrome may be defined as the combination of characteristic physical features associated with complete or partial absence of the second sex (X)chromosome in girls.
Q2) What are the features of Turner Syndrome ?
A1) The common physical features of girls with Turner Syndrome
- Short stature (girls can be upto 20cms short of normal)
- Delayed puberty
- Swollen hands and feet, webbing of neck
- Deformity of wrist
- Thyroid problems
- Shield chest: broad chest with widely spaced nipples
- Low posterior hair line
Q3) How can Turner Syndrome be diagnosed ?
A3) Testing for turner syndrome should be considered in any girl who presents with typical signs mentioned above. Most commonly these girls are consulted for short stature in childhood and puberty being delayed in adolescents. Standard 20-cell karyotype is usually recommended. If mosaicism is strongly suspected, but not demonstrated with standard karyotype, additional FISH studies may be done.
Q4) How can growth delay be managed in girls with Turner Syndrome ?
A4) Girls with Turner syndrome is usually very short for their Mid parental height and remain short throughout life. They are upto 20cm short for the population data. Growth hormone is the main growth promoting therapy in turner syndrome. It is a recombinant hormone which is FDA approved for use in girls with Turner syndrome to help achieve their height potential.
Growth hormone should be initiated early – around 4-6 years of age or before 12-13 years of age preferably. In addition, treatment with oxandrolone from the age of 10 years can be considered.
Q5) How can delayed puberty be managed in girls with Turner Syndrome?
A5) Puberty is most often delayed in these girls. Parents usually present with the girls not getting her periods or any secondary sexual changes despite being 12-14yrs of age. Hormone replacement should be started between 11 and 12 years of age. The therapy includes starting with low dose estrogen and adding progesterone later. This helps in starting puberty in these girls.
Q6) How should these girls be managed for comorbidities ?
A6) Once diagnosed with Turner syndrome these girls should be followed up regularly for associated comorbidities by the endocrinologist.
- Ear: Audiometric evaluation every 5 years and aggressive treatment of middle ear diseases.
- Screening for hypothyroidism (FT4, TSH) every year
- Annual measurement of HbA1c
- Annual measurement of lipid profile in patients with at least one cardiovascular risk from 18 years of age
- Ophthalmic evaluation at diagnosis and correction of refractive error at diagnosis or after 18 months of age.
- 6 monthly clinical evaluations for scoliosis during growth hormone treatment.
- Screening for vitamin D deficiency from 9 to 11 years of age and every 2-3 years thereafter.
- Dual energy X-ray absorptiometry (DXA) scans to monitor bone mineral density after adult hormone replacement therapy has been started.
