Endocrine Abstracts

The immune dysregulation, polyendocrinopathy and enteropathy, X-linked syndrome (IPEX), is a rare and devastating condition of male infants. Immune mediated diabetes and enteropathy occur before 6 months of age and other manifestations include hypothyroidism, recurrent infections and eczema. In 2001, IPEX was mapped to Xp11, an orthologous region to that for the murine model of T cell dysregulation, scurfy, and mutations in the forkhead transcription factor gene, FOXP3,...

Background and aim: Achondroplasia (ACH) is one of the commonest skeletal dysplasias affecting 1:15 000–1:40 000 live births. The average attained adult height is 131±5.6 cm for men and 124±5.9 cm for women. Previous studies have shown that the use of rhGH may result in transient increase in the growth rate, but there have been no long-term data regarding adult height. We aimed to study a cohort of patients with ACH and other skeletal dysplasias who have been tr...