Endocrine Abstracts

Treatment with growth hormone (GH) during childhood and adolescence allows a considerable gain in adult height. SHOX deficiency explains some of the phenotypic characteristics in TS, principally short stature. Puberty has to be induced in most cases, and female sex hormone replacement therapy should continue during adult years. These issues are normally dealt with by the paediatrician, but once a TS female enters adulthood it is less clear who should be the primary care giver. The proper dose of hormone replacement therapy (HRT) with female sex steroids has not been established, and, likewise, benefits and/or drawbacks from HRT have not been thoroughly evaluated. In most countries it seems that the transition period from paediatric to adult care is especially vulnerable and the proper framework for transition has not been established. Likewise, no framework is in place for continuous follow-up during adult years in many countries. During the transition period many young females opt out of longitudinal follow-up, probably because they feel well and cannot clearly see the need for continued medical surveillance, which has to be thoroughly and well explained to patients. However, osteoporosis, diabetes, both type 1 and 2, hypothyroidism, obesity and a host of other endocrinological diseases and conditions are seen more frequently in Turner syndrome in the long term. Prevention, intervention and proper treatment is only just being recognized. Hypertension is frequent and can be a forerunner of cardiovascular disease. The description of adult life with Turner syndrome has been broadened and medical, social and psychological aspects are being added at a compelling pace. With the new international guideline for TS a proposed setup for management is presented. In summary, Turner syndrome is a condition associated with a number of diseases and conditions which need the attention of a multi-disciplinary team both during childhood and adulthood.