hrp0084p3-1178 | Thyroid | ESPE2015

Short Stature with Lipodystrophy: Reminder of a Forgotten Syndrome

Kumar Rakesh , Rifkin Robin , Ehtisham Sarah

Background: The combination of various severe manifestations of hypothyroidism with pseudo muscular hypertrophy is called Kocher Debre Semelaigne syndrome (KDS). KDS is very rare in countries where newborn screening for hypothyroidism is in place. Most of the reports of KDS have come from India and developing countries with only a single report from Europe over last five decades. We present a 7-year-old boy from UK who had short stature and apparent partial lipodystrophy.<...