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

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

Publikationsverlauf

Eingereicht: 20. November 2019

Angenommen: 08. Januar 2020

Artikel online veröffentlicht:
12. Februar 2020

• References

• 1 Silengo M, Defilippi C, Belligni E. et al. Progressive extreme heterotopic calcification. Am J Med Genet A 2013; 161A [phone]
• 2 Bastepe M, Jüppner H. Pseudohypoparathyroidism. New insights into an old disease. Endocrinol Metab Clin North Am 2000; 29 (03) 569-589
• 3 Linglart A, Levine MA, Jüppner H. Pseudohypoparathyroidism. Endocrinol Metab Clin North Am 2018; 47 (04) 865-888
• 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
• 5 Tézenas Du Montcel S, Mendizabai H, Aymé S, Lévy A, Philip N. Prevalence of 22q11 microdeletion. J Med Genet 1996; 33 (08) 719
• 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
• 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
• 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
• 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
• 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
• 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
• 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