Endocrine Abstracts

Introduction: Prader–Willi syndrome (PWS) is a complex genetic disorder caused by the absence of normal activity in the paternally expressed genes from the chromosome 15q11–q13. PWS is typically characterised by hyperphagia, muscular hypotonia, developmental and cognitive delay, behavioural problems and endocrine abnormalities. Obesity and short stature are common. Controlled studies of hormonal treatment in the transition period are not available.<p class="abste...

Treatment with 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. Morbidity and mo...

Hormonal management of androgen, secondary thyroid hormone and vitamin D insufficiency of patients with Klinefelter syndrome (KS) during transition needs some expertise. While vitamin D supplementation should be smoothly applied, thyroxin should be reserved for primary (auto-immune) thyroid disease. Although the androgen deficiency is generally mild and slowly progressive, timely initiation of testosterone replacement therapy (TRT) has been advocated to ensure a normal adult s...