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Hypocalcemia in a paediatric case: from the clinical features to diagnosis

  • José Luis Gómez , Jerónimo Javier Momblán , María Mercedes Ibáñez EMAIL logo , María José Pérez , María Isabel Garzón , Gema Martínez and Mercedes Alcalde
Published/Copyright: August 10, 2013

Abstract

Pseudohypoparathyroidism refers to end-organ resistance that primarily impairs the renal actions of parathyroid hormone (PTH), a key regulator of calcium homeostasis. Its diagnosis is complex because of the multiple variants of this entity, and more so because intravenous PTH is not available for the Ellsworth-Howard test. We report a symptomatic paediatric case of hypocalcaemia, the clinical features of which, and the course after treatment, suggest that it is most probably a case of pseudohypoparathyroidism type Ib.


Corresponding author: María Mercedes Ibáñez, Department of Pediatrics, Torrecárdenas Hospital, Paraje Torrecárdenas s/n. 04009 Almería, Spain, Phone: +0034 600 840170, Fax: +0034 950 015863, E-mail:

References

1. Mantovani G. Pseudohypoparathyroidism:diagnosis and treatment. J Clin Endocrinol Metab 2011;96:3020–30.10.1210/jc.2011-1048Search in Google Scholar PubMed

2. Nakamura Y, Matsumoto T, Tamakoshi A, Kawamura T, Seino Y, et al. Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan. J Epidemiol 2000;10:29–33.10.2188/jea.10.29Search in Google Scholar PubMed

3. Levine MA, Jap TS, Mauseth RS, Downs RW, Spiegel AM. Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of albright’s hereditary osteodystrophy in six kindreds. J Clin Endocrinol Metab 1986;62:497–502.10.1210/jcem-62-3-497Search in Google Scholar PubMed

4. Bastepe M, Jüppner H. GNAS locus and pseudohypoparathyroidism. Horm Res 2005;63:65–74.10.1159/000083895Search in Google Scholar PubMed

5. De Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, et al. Molecular analysis of the GNAS1 gene for the correct diagnosis of albright hereditary osteodystrophy and pseudohypoparathyroidism. Pediatr Res 2003;53:749–55.10.1203/01.PDR.0000059752.07086.A2Search in Google Scholar PubMed

6. Wang O, Xing XP, Meng XW, Xia WB, Li M, et al. Treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidsm with domestic-made calcitriol:a prospective and self-controlled clinical trial. Chin Med J 2009;122:279–83.Search in Google Scholar

7. Fukumoto S, Namba N, Ozono K, Yamauchi M, Sugimoto T, et al. Causes and differential diagnosis of hypocalcemia: recommendation proposed by Expert Panel Supported by Ministry of Health, Labour and Welfare, Japan. Endocr J 2008;55:787–94.10.1507/endocrj.K08E-076Search in Google Scholar

8. Mallet E, De Ménibus CH, Lecointre C, Blondet P. Le Test d’Ellsworth-Howard. Arch Fr Pediatr 1976;33:835–7.Search in Google Scholar

9. Sohn HE, Furukawa Y, Yumita S, Miura R, Unakami H, et al. Effect of synthetic 1-34 fragment of human parathyroid hormone on plasma Adenosine 3′-5′ Monophosphate (cAMP) concentrations and the diagnostic criteria based on the plasma cAMP response in Ellsworth-Howard Test. Endocrin Japon 1984;31:33–40.10.1507/endocrj1954.31.33Search in Google Scholar PubMed

10. Hochberg Z, Moses AM, Richman RA. Parathyroid infusion test in children and adolescents. Mineral Electrolyte Metab 1984;10:113–6.Search in Google Scholar

11. Seki T, Yamamoto M, Kimura H, Tsuiki M, Ono M, et al. Vitamin D deficiency in two young adults with biochemical findings resembling pseudohypoparathyroidism type I and type II. Endocr J 2010;57:735–44.10.1507/endocrj.K10E-097Search in Google Scholar

12. Mantovani G, De Sanctis L, Barbieri AM, Elli FM, Bollati V, et al. Pseudohypoparathyroidsim and GNAS epigenetic defects:clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab 2010;95:651–8.10.1210/jc.2009-0176Search in Google Scholar PubMed

13. Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistence. J Clin Endocrinol Metab 2003;88:4059–69.10.1210/jc.2003-030028Search in Google Scholar PubMed

14. Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL. Body mass index differences in pseudohypoparathyroidism type Ia versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Gαs in the development of human obesity. J Clin Endocrin Metab 2007;92:1073–9.10.1210/jc.2006-1497Search in Google Scholar PubMed

15. Mantovani G, Ferrante E, Giavoli C, Linglart A, Cappa M, et al. Recombinat human GH replacement therapy in children with pseudohypoparathyroidism type Ia:first study on the effect on growth. J Clin Endocrinol Metab 2010;95:5011–7.10.1210/jc.2010-1649Search in Google Scholar PubMed

16. Barr DG, Stirling H, Darling JA. Evolution of pseudohypoparathyroidism:an informative family study. Arch Dis Child 1994;70:337–8.10.1136/adc.70.4.337Search in Google Scholar PubMed PubMed Central

17. Jan de Beur SM, O’Connell JR, Peila R, Cho J, Deng Z, et al. The pseudohypoparathyroidism type 1b locus is linked to a region including GNAS at 20q13.3. J Bone Miner Res 2003;18:424–33.10.1359/jbmr.2003.18.3.424Search in Google Scholar PubMed

18. Jan de Beur S, Ding C, Germain-Lee E, Cho J, Maret A, et al. Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type Ib revealed by inconsistent loss of maternal imprinting at GNAS1. Am J Hum Genet 2003;73:314–22.10.1086/377136Search in Google Scholar PubMed PubMed Central

19. Yuno A, Usui T, Yambe Y, Higashi K, Ugi S, et al. Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay. Eur J Endocrinol 2013;168:169–75.10.1530/EJE-12-0548Search in Google Scholar PubMed

20. Turan S, Ignatius J, Moilanen JS, Kuismin O, Stewart H, et al. De novo STX16 deletions:an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases. J Clin Endocrinol Metab 2012;97:E2314–9.10.1210/jc.2012-2920Search in Google Scholar PubMed PubMed Central

Received: 2013-4-14
Accepted: 2013-6-17
Published Online: 2013-08-10
Published in Print: 2014-01-01

©2014 by Walter de Gruyter Berlin Boston

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