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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Editorial Board Member: Darendeliler, Feyza / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Lanes M. D., Roberto / Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / LaFranchi, Stephen H. / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Wabitsch, Martin / Werther, George / Zadik, Zvi

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Short stature in a patient with familial glucocorticoid deficiency

1 / William J. Kovacs2

1Division of Pediatric Endocrinology, Monroe Carell Jr. Children’s Hospital at Vanderbilt, Nashville, TN, USA

2Division of Endocrinology, Metabolism and Diabetes, The Pennsylvania State University, College of Medicine, Milton S. Hershey Medical Center, Hershey, PA, USA

Corresponding author: Revi P. Mathew, MD, FRCP, Division of Pediatric Endocrinology, Monroe Carell Jr. Children’s Hospital at Vanderbilt, 11136, C-DOT, 2200 Children’s Way, Nashville, TN 37232-9170, USA Phone: +1-615-322-7427, Fax: +1-615-343-5845

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 24, Issue 7-8, Pages 569–571, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem.2011.203, August 2011

Abstract

A 10.5-year-old Caucasian girl with familial glucocorticoid deficiency (FGD) is presented. She had a homozygous S74I mutation of the ACTH receptor and her parents were heterozygous for the same mutation. Around 4 years prior to the diagnosis of FGD, she was diagnosed with antibody positive primary hypothyroidism and was on thyroxin supplementation. FGD patients are considered to be tall. Our patient was only 146.5 cm (4′ 9.25″) tall at age 17 years (–2.21 standard deviations below the mean for her age). The possible mechanism for short stature in FGD is speculated.

Keywords: familial glucocorticoid deficiency; primary hypothyroidism; short stature

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