Hormone Research in Paediatrics
Original Paper
Parathyroid Gland Dysfunction in 22q11.2 Deletion SyndromeAl-Jenaidi F.a · Mäkitie O.a, c · Grunebaum E.b · Sochett E.aDivisions of aEndocrinology and bImmunology, The Hospital for Sick Children, University of Toronto, Toronto, Canada; cDivision of Endocrinology, Hospital for Children and Adolescent, University of Helsinki, Helsinki, Finland
|
|
Log in to MyKarger to check if you already have access to this content.
KAB
Buy a Karger Article Bundle (KAB) and profit from a discount!
If you would like to redeem your KAB credit, please log in.
Save over 20% compared to the individual article price.
Article / Publication Details
Received: March 03, 2006
Accepted: July 07, 2006
Published online: October 19, 2006
Issue release date: March 2007
Number of Print Pages: 6
Number of Figures: 0
Number of Tables: 3
ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)
For additional information: https://www.karger.com/HRP
Abstract
Background: 22q11 deletion syndrome (22q11DS) is characterized by conotruncal cardiac defects and hypoplasia of parathyroid glands and thymus, which result in variable hypoparathyroidism (HPT) and immune deficiency. Methods: To study the course of HPT and the spectrum of other associated manifestations we evaluated all patients with 22q11DS, confirmed by fluorescence in situ hybridization, and HPT who were under follow-up at the Calcium-bone clinic, The Hospital for Sick Children, Toronto. Patients were clinically assessed and their hospital records were reviewed. Results: Eighteen patients were included. At follow-up assessment at median age of 7.3 years HPT was judged complete in 11 (61%) and partial in 7 patients (39%). Patients with complete HPT presented with hypocalcemia later (median age at diagnosis 2.4 vs. 0.0 years) and more often with a hypocalcemic seizure than patients with partial HPT (73 vs. 29%). The spectrum of other associated manifestations did not differ between the groups. Conclusions: HPT in patients with 22q11DS is often partial. Many of the patients present with a hypocalcemic seizure which is predictive of complete HPT. Patients with complete and partial HPT do not differ in respect to their other associated features. Patients with features of 22q11DS should be actively screened for hypocalcemia to prevent development of symptomatic hypocalcemia.
© 2007 S. Karger AG, Basel
Related Articles:
References
- Digilio MC, Angioni A, De Santis M, Lombardo A, Giannotti A, Dallapiccola B, Marino B: Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet 2003;63:308–313.
- Tezenas Du Montcel S, Mendizabai H, Ayme S, Levy A, Philip N: Prevalence of 22q11 microdeletion. J Med Genet 1996;33:719.
- Devriendt K, Fryns JP, Mortier G, van Thienen MN, Keymolen K: The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 1998;35:789–790.
- Scire G, Dallapiccola B, Iannetti P, Bonaiuto F, Galasso C, Mingarelli R, Boscherini B: Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions. Am J Med Genet 1994;52:478–482.
- Cuneo BF, Driscoll DA, Gidding SS, Langman CB: Evolution of latent hypoparathyroidism in familial 22q11 deletion syndrome. Am J Med Genet 1997;69:50–55.
- Greig F, Paul E, DiMartino-Nardi J, Saenger P: Transient congenital hypoparathyroidism: resolution and recurrence in chromosome 22q11 deletion. J Pediatr 1996;128:563–567.
- Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O’Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RM: A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 2003;112:101–107.
- Cuneo BF, Langman CB, Ilbawi MN, Ramakrishnan V, Cutilletta A, Driscoll DA: Latent hypoparathyroidism in children with conotruncal cardiac defects. Circulation 1996;93:1702–1708.
- Weinzimer SA: Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med 2001;3:19–22.
- Morris-Rosendahl DJ, Back E: The human genome: chromosome 22q11 deletion syndrome. Am J Psychiatry 2002;159:527.
- Scuccimarri R, Rodd C: Thyroid abnormalities as a feature of DiGeorge syndrome: a patient report and review of the literature. J Pediatr Endocrinol Metab 1998;11:273–276.
- Choi JH, Shin YL, Kim GH, Seo EJ, Kim Y, Park IS, Yoo HW: Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res 2005;63:294–299.
- Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Scambler PJ, et al: Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997;34:798–804.
- Brauner R, Le Harivel de Gonneville A, Kindermans C, Le Bidois J, Prieur M, Lyonnet S, Souberbielle JC: Parathyroid function and growth in 22q11.2 deletion syndrome. J Pediatr 2003;142:504–508.
- Greenberg F: Hypoparathyroidism and the DiGeorge syndrome. N Engl J Med 1989;320:1146–1147.
- Cuneo BF: 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Curr Opin Pediatr 2001;13:465–472.
- Greig F, Paul E, DiMartino-Nardi J, Saenger P: Transient congenital hypoparathyroidism: resolution and recurrence. J Pediatr 1996;128:563–567.
- Shearer WT, Rosenblatt HM, Gelman RS, Oyomopito R, Plaeger S, Stiehm ER, Wara DW, Douglas SD, Luzuriaga K, McFarland EJ, Yogev R, Rathore MH, Levy W, Graham BL, Spector SA; Pediatric AIDS Clinical Trials Group P1009 Study: Lymphocyte subsets in healthy children from birth through 18 years of age. J Allergy Clin Immunol 2003;112:973–980.
- Dalal I, Grunebaum E, Cohen A, Roifman CM: Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. Clin Genet 2001;59:430–437.
- Markert ML, Boeck A, Hale LP, Kloster AL, McLaughlin TM, Batchvarova MN, Douek DC, Koup RA, Kostyu DD, Ward FE, Rice HE, Mahaffey SM, Schiff SE, Buckley RH, Haynes BF: Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med 1999;341:1180–1189.
- Digilio MC, Marino B, Cappa M, Cambiaso P, Giannotti A, Dallapiccola B: Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome). Genet Med 2001;3:30–33.
- Sullivan KE, Jawad AF, Randall P, Driscoll DA, Emanuel BS, McDonald-McGinn DM, Zackai EH: Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Clin Immunol Immunopathol 1998;86:141–149.
- Xu PX, Zheng W, Laclef C, Maire P, Maas RL, Peters H, Xu X: Eya1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid. Development 2002;129:3033–3044.
- Farr AG, Dooley JL, Erickson M: Organization of thymic medullary epithelial heterogeneity: implications for mechanisms of epithelial differentiation. Immunol Rev 2002;189:20–27.
Article / Publication Details
Received: March 03, 2006
Accepted: July 07, 2006
Published online: October 19, 2006
Issue release date: March 2007
Number of Print Pages: 6
Number of Figures: 0
Number of Tables: 3
ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)
For additional information: https://www.karger.com/HRP
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
Get Permission
PubMed ID
