Endocrine Abstracts

TS is a well defined chromosomal disorder that affects 1 in 2500 females. Its characteristic stigmata are short stature and gonadal dysgenesis with skeletal, soft tissue and visceral abnormalities. The range of morbidities has a profound impact on quality of life of patients with TS so multidisciplinary approach to the management is needed in childhood, adolescence and adulthood.

The diagnosis is based on a karyotype and may be done prenatally during chorionic villous sampling or in infancy, if characteristic lymphedema occurs. Most commonly the first clinical sign is growth failure in the first years of life. At the time of diagnosis all individuals should have cardiac evaluation and renal ultrasound study performed. Thyroid function and hearing should also be checked as there is an increased risk of autoimmune thyroiditis and middle ear disease. Growth hormone (GH) therapy improves significantly final height. The age of starting treatment and optimal dosing remains controversial. During therapy IGF-1 and thyroid hormones should be monitored. Pubertal induction is not recommended before 12 years of age and at least 4 years of GH treatment. Some patients enter spontaneous puberty but it is commonly followed by progressive ovarian failure. Estrogen therapy is required to induce pubertal development and it should be initiated at a low dose and increased gradually with doses adjusted to the response. The mode of replacement remains a matter of debate with preference of transdermal route. Optimal estrogen replacement is important as women with TS are at grater risk of osteoporosis. Progestin should be added when vaginal bleeding occurs.

Transition from paediatric to adult healthcare is usually encouraged at the completion of puberty, by 18 years of age. All the medical problems present in childhood should be carefully monitored in adults. Cyclical estrogen-progestin replacement therapy is recommended. Breast evaluation and pelvic ultrasonography should be performed like in general population. Psychological care and information about assisted reproductive techniques should be provided.