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Journal of Pediatric Endocrinology and Metabolism

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An unusual cause of delayed puberty: Berardinelli-Seip syndrome

1 / Pawan Dhull2 / Saroj Kumar Patnaik3 / KVS Hari Kumar4

1Endocrinology, Command Hospital, Bangalore 560007, India

2Neurology, Command Hospital, Bangalore, India

3Pediatrics, Command Hospital, Bangalore, India

4Endocrinology, Command Hospital, Lucknow, India

Corresponding author: Upreti Vimal, Endocrinology Command Hospital, Bangalore 560007, India

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 25, Issue 11-12, Pages 1157–1160, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem-2012-0240, November 2012

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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.

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