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Hypercalcemia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Related to Parathyroid gland
 
 
 
 
 
 
 
 
 
 
 
Unrelated to parathyroid gland
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Primary hyperparathyroidism
 
 
Secondary hyperparathyroidism
 
 
Tertiary hyperparathyroidism
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Typical primary hyperparathyroidism
 
Familial hypocalciuric hypercalcemia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Malignancy
 
 
 
 
 
Medication induced
 
 
 
Nutritional
 
 
 
 
Granulomatous disease
 
 
Surgical
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Para-neoplastic syndrome: Parathyroid hormone related peptide
 
Metaplasia: Hypercalcemia due to bone destruction
 
Thiazide diuretics
 
Lithium
 
Milk alkali syndrome
 
Vitamin D toxicity
 
Sarcoidosis
 
 
Immobilization
 

Differential diagnosis

Hypoparathyroidism Inheritance Gene mutation Clinical features
Autoimmune[1] Autoimmune polyglandular hypoparathyroidism Autoimmune polyglandular endocrinopathy type 1 Autosomal recessive disease Mutation in AIRE gene
  • Also known as autosomal recessive disease called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
  • Presents with a variable combination of:
    • Failure of the parathyroid glands, adrenal cortex, gonads, pancreatic beta cells, gastric parietal cells, and thyroid gland, and hepatitis
    • Chronic mucocutaneous candidiasis
    • Dystrophy of dental enamel and nails, alopecia, vitiligo, and keratopath
Isolated Familial Isolated hypoparathyroidism Autosomal dominant PTH gene
GCM2 gene
Autosomal recessive PTH gene[2]
GCM2 gene[3][4]
X-linked FHL1 gene (exon 4, c.C283T, p.R95W) on chromosome locus Xq26-q27.[5]
Autosomal dominant hypercalcemia[6] Autosomal dominant hypocalcemia type 1 Autosomal dominant Calcium-sensing receptor gene mutation
  • Calcium-sensing receptor gene activating mutation.
  • Most common genetic form of hypoparathyroidism.
  • Also known as familial hypercalciuric hypocalcemia.
  • The activating mutation results in gain in function.
  • Calcium-sensing receptor gene activating mutation can also cause Bartter syndrome type 5.This mutation cause the inhibition of apical potassium channel in the thick ascending limb of the loop of Henle in the kidney.[7][8]
Autosomal dominant hypocalcemia type 2 Autosomal dominant G protein G11 (GNA11) mutation
Congenital multisystem syndromes DiGeorge syndrome[9] Autosomal dominant 22q11.2 deletion.
CHARGE syndrome[10] Autosomal dominant CHD7 G744S missense mutation
Kenny-Caffey syndrome type 1[11] Autosomal recessive Deletion of the TBCE gene
  • Presents with hypoparathyroidism due to absent parathyroid tissue, growth retardation, medullary stenosis of tubular bones.
Kenny-Caffey syndrome type 2[12] Autosomal dominant Mutation of “family with sequence similarity 111, member A″ (FAM111A) gene located on chromosome locus 11q12.1
  • Patients with Kenny-Caffey sundrome type 2 have same clinical features as Kenny-Caffey syndrome type 1 except for mental retardation.
Sanjad-Sakati syndrome[13] Autosomal recessive Mutation in TBCE gene.
Barakat syndrome[14][15] Autosomal recessive Mutations in the GATA3 gene
  • Also known as hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome
  • Presents with primary hypoparathyroidism, nerve deafness, steroid-resistant nephrosis.
Metabolic diseases Mitochondiral polyneuropathies[16] Kearns–Sayre syndrome Mitochondrial inheritence mtDNA deletion
  • Progressive external ophthalmoplegia
  • Retinitis pigmentosa
  • Cardiomyopathy,
  • Heart block
Maternally inherited diabetes and deafness (MIDD) Mitochondrial inheritence MT‑TL1
  • Diabetes mellitus and deafness
Mitochondrial enzyme deficiencies Mitochondrial trifunctional protein deficiency (MTP deficiency)[17]
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency)[18] Autosomal recessive G1528C mutation
  • Hypoglycemia
  • Hepatopathy
  • Hypotonia
  • Cardiomyopathy,
  • Retinopathy
Heavy metal storage disorders Hemochromatosis[19]
Wilson's disease[20]
  1. ↑ Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J (1990). "Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients". N. Engl. J. Med. 322 (26): 1829–36. doi:10.1056/NEJM199006283222601. PMID 2348835.
  2. ↑ Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S (1999). "A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism". J. Clin. Endocrinol. Metab. 84 (10): 3792–6. doi:10.1210/jcem.84.10.6070. PMID 10523031.
  3. ↑ Invalid <ref> tag; no text was provided for refs named pmid18712808
  4. ↑ Ding C, Buckingham B, Levine MA (2001). "Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB". J. Clin. Invest. 108 (8): 1215–20. doi:10.1172/JCI13180. PMC 209530. PMID 11602629.
  5. ↑ Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N (2017). "A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism". Hum. Genet. 136 (7): 835–845. doi:10.1007/s00439-017-1804-9. PMC 5487855. PMID 28444561.
  6. ↑ Roszko KL, Bi RD, Mannstadt M (2016). "Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2". Front Physiol. 7: 458. doi:10.3389/fphys.2016.00458. PMC 5067375. PMID 27803672.
  7. ↑ Vezzoli G, Arcidiacono T, Paloschi V, Terranegra A, Biasion R, Weber G, Mora S, Syren ML, Coviello D, Cusi D, Bianchi G, Soldati L (2006). "Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome". J. Nephrol. 19 (4): 525–8. PMID 17048213.
  8. ↑ Choi KH, Shin CH, Yang SW, Cheong HI (2015). "Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C". Korean J Pediatr. 58 (4): 148–53. doi:10.3345/kjp.2015.58.4.148. PMC 4414630. PMID 25932037.
  9. ↑ Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM (2010). "DiGeorge Syndrome: a not so rare disease". Clinics (Sao Paulo). 65 (9): 865–9. PMC 2954737. PMID 21049214.
  10. ↑ Jain S, Kim HG, Lacbawan F, Meliciani I, Wenzel W, Kurth I, Sharma J, Schoeneman M, Ten S, Layman LC, Jacobson-Dickman E (2011). "Unique phenotype in a patient with CHARGE syndrome". Int J Pediatr Endocrinol. 2011: 11. doi:10.1186/1687-9856-2011-11. PMC 3216247. PMID 21995344.
  11. ↑ Metwalley KA, Farghaly HS (2012). "Kenny-Caffey syndrome type 1 in an Egyptian girl". Indian J Endocrinol Metab. 16 (5): 827–9. doi:10.4103/2230-8210.100645. PMC 3475915. PMID 23087875.
  12. ↑ Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S (2014). "A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2". J. Bone Miner. Res. 29 (4): 992–8. doi:10.1002/jbmr.2091. PMID 23996431.
  13. ↑ Rafique B, Al-Yaarubi S (2010). "Sanjad-Sakati Syndrome in Omani children". Oman Med J. 25 (3): 227–9. doi:10.5001/omj.2010.63. PMC 3191633. PMID 22043344.
  14. ↑ Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T (2001). "GATA3 abnormalities and the phenotypic spectrum of HDR syndrome". J. Med. Genet. 38 (6): 374–80. PMC 1734904. PMID 11389161.
  15. ↑ Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K (2000). "GATA3 haplo-insufficiency causes human HDR syndrome". Nature. 406 (6794): 419–22. doi:10.1038/35019088. PMID 10935639.
  16. ↑ Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S (2017). "Mitochondrial disease and endocrine dysfunction". Nat Rev Endocrinol. 13 (2): 92–104. doi:10.1038/nrendo.2016.151. PMID 27716753.
  17. ↑ Labarthe F, Benoist JF, Brivet M, Vianey-Saban C, Despert F, de Baulny HO (2006). "Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency". Eur. J. Pediatr. 165 (6): 389–91. doi:10.1007/s00431-005-0052-5. PMID 16523289.
  18. ↑ Tyni T, Rapola J, Palotie A, Pihko H (1997). "Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation". J. Pediatr. 131 (5): 766–8. PMID 9403664.
  19. ↑ Jeong HK, An JH, Kim HS, Cho EA, Han MG, Moon JS, Kim HK, Kang HC (2014). "Hypoparathyroidism and subclinical hypothyroidism with secondary hemochromatosis". Endocrinol Metab (Seoul). 29 (1): 91–5. doi:10.3803/EnM.2014.29.1.91. PMC 3970271. PMID 24741460.
  20. ↑ Carpenter TO, Carnes DL, Anast CS (1983). "Hypoparathyroidism in Wilson's disease". N. Engl. J. Med. 309 (15): 873–7. doi:10.1056/NEJM198310133091501. PMID 6888480.
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