Download PDF
J Pediatr Genet 2021; 10(01): 045-048
DOI: 10.1055/s-0040-1701640
Case Report

Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case

Bruna Lixinski Diniz
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil
,
Andressa Barreto Glaeser
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil
,
Desirée Deconte
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil
,
Bruna Baierle Guaraná
2   Department of Internal Medicine, Clinical Genetics, UFCSPA and Irmandade Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, Brazil
,
Rafael Fabiano Machado Rosa
2   Department of Internal Medicine, Clinical Genetics, UFCSPA and Irmandade Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, Brazil
,
Paulo Ricardo Gazzola Zen 
2   Department of Internal Medicine, Clinical Genetics, UFCSPA and Irmandade Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, Brazil
› Author Affiliations Funding This study was supported by Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (FAPERGS, 17/2551-0001063-9), Programa de Extensão Universitária do Ministério da Educação e Cultura (PROEXT), and Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES, 001)/Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq, 301834/2016-4).
› Further Information
Also available at
    Permissions and Reprints

Abstract

Ectopic calcification in soft tissue is associated with several disorders including pseudohypoparathyroidism (PHP), which is characterized by resistance or nonresponse to parathyroid hormone (PTH) function. Association between PHP and 22q11DS, also known as DiGeorge syndrome, is rare, especially in children. We describe a newborn girl diagnosed with 22q11DS, presenting ectopic calcifications in soft tissue and suspicion of PHP. PTH function showed values close to the upper limit of the reference value. Radiology showed bone callus in the right wrist. PHP can be a new clinical finding associated with 22q11DS. Parathyroid function investigation in individuals with 22q11DS, presenting bone dysmorphisms and/or calcium metabolism alterations, should be considered.

Keywords

ectopic calcification - pseudohypoparathyroidism - DiGeorge syndrome


Publication History

Received: 20 November 2019

Accepted: 08 January 2020

Article published online:
12 February 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Silengo M, Defilippi C, Belligni E. et al. Progressive extreme heterotopic calcification. Am J Med Genet A 2013; 161A (07) 1706-1713
    CrossrefPubMedGoogle Scholar
  • 2 Bastepe M, Jüppner H. Pseudohypoparathyroidism. New insights into an old disease. Endocrinol Metab Clin North Am 2000; 29 (03) 569-589
    CrossrefPubMedGoogle Scholar
  • 3 Linglart A, Levine MA, Jüppner H. Pseudohypoparathyroidism. Endocrinol Metab Clin North Am 2018; 47 (04) 865-888
    CrossrefPubMedGoogle Scholar
  • 4 Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL. Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. J Clin Endocrinol Metab 2007; 92 (03) 1073-1079
    CrossrefPubMedGoogle Scholar
  • 5 Tézenas Du Montcel S, Mendizabai H, Aymé S, Lévy A, Philip N. Prevalence of 22q11 microdeletion. J Med Genet 1996; 33 (08) 719
    Google Scholar
  • 6 Liu XJ, Yan C, Jia JY. A typical 22q11.2 deletion syndrome and pseudohypoparathyroidism: a CARE compliant case report. Medicine (Baltimore) 2019; 98 (25) e16109
    CrossrefPubMedGoogle Scholar
  • 7 Craigen WJ, Lindsay EA, Bricker JT, Hawkins EP, Baldini A. Deletion of chromosome 22q11 and pseudohypoparathyroidism. Am J Med Genet 1997; 72 (01) 63-65
    CrossrefPubMedGoogle Scholar
  • 8 Adachi M, Muroya K, Asakura Y, Kondoh Y, Ishihara J, Hasegawa T. Ectopic calcification as discernible manifestation in neonates with pseudohypoparathyroidism type 1a. Int J Endocrinol 2009; 2009: 931057
    CrossrefPubMedGoogle Scholar
  • 9 Riepe FG, Ahrens W, Krone N. et al. Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. Eur J Endocrinol 2005; 152 (04) 515-519
    CrossrefPubMedGoogle Scholar
  • 10 Lubell T, Garzon M, Anyane Yeboa K, Shah B. A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis. J Clin Res Pediatr Endocrinol 2009; 1 (05) 244-247
    CrossrefPubMedGoogle Scholar
  • 11 Zung A, Herzenberg JE, Chalew SA. Radiological case of the month. Ectopic ossification and calcification in pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Arch Pediatr Adolesc Med 1996; 150 (06) 643-644
    CrossrefPubMedGoogle Scholar
  • 12 Balavoine AS, Ladsous M, Velayoudom FL. et al. Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH. Eur J Endocrinol 2008; 159 (04) 431-437
    CrossrefPubMedGoogle Scholar