Hypocalcemia in a paediatric case: from the clinical features to diagnosis
-
José Luis Gómez
, María José Pérez
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.
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
©2014 by Walter de Gruyter Berlin Boston
Articles in the same Issue
- Masthead
- Masthead
- Editorials
- Editorial
- Consensus, guidelines and reviews
- Review article
- Adaptation of glucose metabolism to fasting in young children with infectious diseases: a perspective
- Images in pediatric endocrinology
- Coexistence of testicular microlithiasis with parathyroid adenoma in an obese child
- Original articles
- Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood
- Effects of metformin in children and adolescents with Prader-Willi syndrome and early-onset morbid obesity: a pilot study
- Glycemic control in familial vs. sporadic type 1 diabetes patients over 5 years
- Clinical and laboratory features of temporary brittle bone disease
- Age of thelarche and menarche in contemporary US females: a cross-sectional analysis
- Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism
- Retinol and retinyl palmitate in fetal mice liver: sexual dimorphism
- Skeletal maturation and predicted adult height in children with premature adrenarche
- Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia
- Body composition in young patients with galactose metabolic disorders: a preliminary report
- Detection of vascular risk markers in children and adolescents with type 1 diabetes
- X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study
- Factors influencing neonatal thyroid-stimulating hormone concentrations as a measure of population iodine status
- Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study
- Patient reports
- Hypothalamic hamartoma associated with central precocious puberty and growth hormone deficiency
- A pediatric patient with Cushing syndrome caused by ectopic ACTH syndrome and concomitant pituitary incidentalomas
- A novel genetic mutation in a Portuguese family with GCK-MODY
- Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy
- Hypocalcemia in a paediatric case: from the clinical features to diagnosis
- A rare case of osteogenesis imperfecta combined with complete tooth loss
- Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism
- Clinical expression of familial Williams-Beuren syndrome in a Turkish family
- The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma
- Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature
- Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency
- Premature thelarche related to fennel tea consumption?
- A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I
- Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling
- Marine-Lenhart syndrome in a young girl
- Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy
- Letter to the Editors
- Mutational analysis of KISS1 and KISS1R in idiopathic central precocious puberty
- Carotid intima media thickness and echocardiography in risk stratification of obese adolescents with non-alcoholic fatty liver disease: what is the “right” approach?
- Vitamin D and the heart: what is the truth?
Articles in the same Issue
- Masthead
- Masthead
- Editorials
- Editorial
- Consensus, guidelines and reviews
- Review article
- Adaptation of glucose metabolism to fasting in young children with infectious diseases: a perspective
- Images in pediatric endocrinology
- Coexistence of testicular microlithiasis with parathyroid adenoma in an obese child
- Original articles
- Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood
- Effects of metformin in children and adolescents with Prader-Willi syndrome and early-onset morbid obesity: a pilot study
- Glycemic control in familial vs. sporadic type 1 diabetes patients over 5 years
- Clinical and laboratory features of temporary brittle bone disease
- Age of thelarche and menarche in contemporary US females: a cross-sectional analysis
- Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism
- Retinol and retinyl palmitate in fetal mice liver: sexual dimorphism
- Skeletal maturation and predicted adult height in children with premature adrenarche
- Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia
- Body composition in young patients with galactose metabolic disorders: a preliminary report
- Detection of vascular risk markers in children and adolescents with type 1 diabetes
- X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study
- Factors influencing neonatal thyroid-stimulating hormone concentrations as a measure of population iodine status
- Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study
- Patient reports
- Hypothalamic hamartoma associated with central precocious puberty and growth hormone deficiency
- A pediatric patient with Cushing syndrome caused by ectopic ACTH syndrome and concomitant pituitary incidentalomas
- A novel genetic mutation in a Portuguese family with GCK-MODY
- Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy
- Hypocalcemia in a paediatric case: from the clinical features to diagnosis
- A rare case of osteogenesis imperfecta combined with complete tooth loss
- Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism
- Clinical expression of familial Williams-Beuren syndrome in a Turkish family
- The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma
- Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature
- Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency
- Premature thelarche related to fennel tea consumption?
- A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I
- Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling
- Marine-Lenhart syndrome in a young girl
- Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy
- Letter to the Editors
- Mutational analysis of KISS1 and KISS1R in idiopathic central precocious puberty
- Carotid intima media thickness and echocardiography in risk stratification of obese adolescents with non-alcoholic fatty liver disease: what is the “right” approach?
- Vitamin D and the heart: what is the truth?