Endocrine Abstracts

A 17-year-old female was referred to the adult endocrine clinic with a history of primary amenorrhoea. She was short in stature with a height below the 4th centile for her age. Her BMI was 24 kg/m2 with a weight below the 25th centile and there was delay in bone-age 2 years.She had an interesting past medical history of late-onset central nocturnal hypoventilation from the age of 8 years when she presented with apnoeic episodes and weight gain...

Single gene defects causing severe insulin resistance have been elucidated either by directed screening of candidate genes (INSR, AKT2, PPARG) or by detailed linkage mapping in large pedigrees (BSCL2, AGPAT2, LMNA), and study of patients harbouring these known defects continues to yield important insights into insulin’s action in health and disease. However a large proportion of the genetic defects leading to severe insulin resistance in slim subjects remains undiscovered...