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 / Roth, Christian / 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
IMPACT FACTOR 2015: 0.912
SCImago Journal Rank (SJR) 2015: 0.493
Source Normalized Impact per Paper (SNIP) 2015: 0.600
Impact per Publication (IPP) 2015: 0.955
An unusual cause of delayed puberty: Berardinelli-Seip syndrome
1Endocrinology, Command Hospital, Bangalore 560007, India
2Neurology, Command Hospital, Bangalore, India
3Pediatrics, Command Hospital, Bangalore, India
4Endocrinology, Command Hospital, Lucknow, 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
- Published Online:
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.
Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.