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Roth, Christian

Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Toppari, Jorma

Editorial Board Member: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

12 Issues per year

IMPACT FACTOR 2016: 1.233

CiteScore 2016: 1.09

SCImago Journal Rank (SJR) 2016: 0.527
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Volume 25, Issue 11-12 (Dec 2012)


An unusual cause of delayed puberty: Berardinelli-Seip syndrome

Vimal Upreti
  • Corresponding author
  • Endocrinology, Command Hospital, Bangalore 560007, India
  • Email:
/ Pawan Dhull
  • Neurology, Command Hospital, Bangalore, India
/ Saroj Kumar Patnaik
  • Pediatrics, Command Hospital, Bangalore, India
/ KVS Hari Kumar
  • Endocrinology, Command Hospital, Lucknow, India
Published Online: 2012-11-17 | DOI: https://doi.org/10.1515/jpem-2012-0240


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.

About the article

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

Received: 2012-07-23

Accepted: 2012-09-17

Published Online: 2012-11-17

Published in Print: 2012-12-01

Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2012-0240.

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©2012 by Walter de Gruyter Berlin Boston. Copyright Clearance Center

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