Growth hormone deficiency, short stature, and juvenile rheumatoid arthritis in a patient with autoimmune polyglandular syndrome type 1: case report and brief review of the literature.

ISRN Endocrinology
Teresa Pun, Vikram Chandurkar

Abstract

Autoimmune polyglandular syndromes (APSs) include a cluster of autoimmune and nonautoimmune conditions which have been classified into subtypes. APSs type 1 is characterized by at least two of the following: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and autoimmune Addison's disease (AD). We report the chronological history of a female patient who presented with features most consistent with APS type 1, along with growth hormone deficiency and juvenile rheumatoid arthritis (JRA). In terms of her autoimmune diagnoses, she first presented with JRA at three years of age, then hypocalcemia and hypoparathyroidism at five years of age, type 1 diabetes (DM 1) at age eleven years, adrenal insufficiency at age fourteen years, recurrent mucocutaneous candidiasis as a teenager, growth hormone deficiency at age fourteen years leading to significant short stature, primary amenorrhoea, and hypogonadism, and finally alopecia at age twenty-six years. In addition to this, she has suffered other nonautoimmune medical problems including a Tetralogy of Fallot with a surgical repair at age six years. On review of the medical literature, we found no other previously reported case with this unique combination of medical problems.

References

Dec 17, 1997·Nature Genetics·K NagamineN Shimizu
Mar 25, 1999·Journal of Endocrinological Investigation·A FranzeseA Tenore
Feb 27, 2001·Journal of the Society for Gynecologic Investigation·N MaclarenZ S Sun
May 11, 2006·The Journal of Clinical Endocrinology and Metabolism·Jaakko Perheentupa
Jul 21, 2007·Nature Reviews. Immunology·Diane Mathis, Christophe Benoist
Feb 16, 2008·The American Journal of the Medical Sciences·D Y AksoyM Bayraktar

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Citations

Dec 23, 2011·International Journal of Endocrinology·Pantelis TsimarisDeligeoroglou Efthymios
Jun 12, 2013·The Journal of Pediatrics·Walter BonfigUNKNOWN German Bundesministerium für Bildung und Forschung Competence Net for Diabetes Mellitus
Aug 23, 2012·Molecular and Cellular Endocrinology·Hana Vakili, Peter A Cattini
Mar 4, 2014·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·P Roncalés-SamanesJ I Labarta Aizpun
Jan 9, 2016·The Journal of Clinical Endocrinology and Metabolism·Felix SchreinerJoachim Woelfle
Dec 8, 2020·The Pediatric Infectious Disease Journal·Elif Soyak AytekinIlhan Tezcan

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Methods Mentioned

BETA
ESR
X-ray

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