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Abstract
Berardinelli-Seip syndrome is an autosomal recessive disorder characterized by generalized lipoatrophy, extreme insulin resistance with dyslipidemia in childhood and development of diabetes in adolescence. Menstrual irregularities are commonly seen as a result of secondary polycystic ovarian syndrome. Delayed puberty as a manifestation of these abnormalities in girls has rarely been described earlier. We report one such case patient who had delayed puberty and portal hypertension as unique features amongst the characteristic phenotypes of this syndrome.
Keywords: Berardinelli-Seip syndrome; delayed puberty; fatty liver; hypertriglyceridemia; insulin resistance; Key messages: BSCL is a rare cause of extreme insulin resistance in a phenotypically lean patient. Delayed puberty may be a manifestation apart from menstrual irregularities due to secondary polycystic ovarian syndrome. All cases must also be evaluated for evidence of portal hypertension to prevent morbidity and mortality related to this condition.
Received: 2012-7-23
Accepted: 2012-9-17
Published Online: 2012-11-17
Published in Print: 2012-12-01
©2012 by Walter de Gruyter Berlin Boston