ESPE Abstracts

Cushing Syndrome is rare in childhood. Between 2 and 5 new cases per million people are diagnosed each year, of which only 10% are reported to occur within the paediatric population. There is a female predominance but a male predominance has been reported in infants. Classical clinical indicators of Cushing syndrome in childhood include central weight gain and growth failure. Other clinical manifestations include facial flushing, hypertension, hirsutism, pubertal delay, acne, ...

Thyroid hormone (TH) plays an integral role in regulating homeostasis in the body throughout life. Adequate levels of TH are particularly important in utero and early infancy to ensure normal neurodevelopment. Triiodothyronine or T3 is biologically form of TH. Transport of T3 into the cell is facilitated by specific TH specific transporter proteins of which monocarboxylate transporter 8(MCT8) is well described. MCT8 is encoded by SLC16A2 on chromosome Xq13.2. Mutations in this...