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Hypoparathyroidism

MedGen UID:
6985
Concept ID:
C0020626
Disease or Syndrome
Synonyms: Decreased parathyroid hormone secretion; Deficiency of parathyrin; Deficiency of parathyroid hormone; Deficiency of PTH; hypoparathyroidism; hypoparathyroidism, idiopathic (subtype); Low parathyroid hormone; parathyroid, underactivity of
SNOMED CT: Hypoparathyroidism (36976004); Deficiency of parathyroid hormone (36976004); Deficiency of parathyrin (36976004); Deficiency of PTH (36976004)
 
HPO: HP:0000829
Monarch Initiative: MONDO:0001220

Definition

A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. [from HPO]

Conditions with this feature

Wilson disease
MedGen UID:
42426
Concept ID:
C0019202
Disease or Syndrome
Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families. Liver disease includes recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). Psychiatric disturbance includes depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration. Kayser-Fleischer rings, frequently present, result from copper deposition in Descemet's membrane of the cornea and reflect a high degree of copper storage in the body.
Kearns-Sayre syndrome
MedGen UID:
9618
Concept ID:
C0022541
Disease or Syndrome
Mitochondrial DNA (mtDNA) deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex (i.e., a single occurrence in a family), but rarely may be observed in different members of the same family or may evolve from one clinical syndrome to another in a given individual over time. The three classic phenotypes caused by mtDNA deletions are Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external ophthalmoplegia (PEO). KSS is a progressive multisystem disorder defined by onset before age 20 years, pigmentary retinopathy, and PEO; additional features include cerebellar ataxia, impaired intellect (intellectual disability, dementia, or both), sensorineural hearing loss, ptosis, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, cardiac conduction block, and endocrinopathy. Pearson syndrome is characterized by sideroblastic anemia and exocrine pancreas dysfunction and may be fatal in infancy without appropriate hematologic management. PEO is characterized by ptosis, impaired eye movements due to paralysis of the extraocular muscles (ophthalmoplegia), oropharyngeal weakness, and variably severe proximal limb weakness with exercise intolerance. Rarely, a mtDNA deletion can manifest as Leigh syndrome.
Polyglandular autoimmune syndrome, type 1
MedGen UID:
39125
Concept ID:
C0085859
Disease or Syndrome
Autoimmune polyglandular syndrome type I is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis (Neufeld et al., 1981). However, variable APS1 phenotypes have been observed, even among sibs. In addition, some patients may exhibit apparent isolated hypoparathyroidism, an early manifestation of APS1 with peak incidence at around age 5 years; over longterm follow-up, the development of additional features of APS1 may be observed (Cranston et al., 2022).
Velocardiofacial syndrome
MedGen UID:
65085
Concept ID:
C0220704
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.
Metaphyseal chondrodysplasia, Jansen type
MedGen UID:
120529
Concept ID:
C0265295
Disease or Syndrome
The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002).
CHARGE association
MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.
Hypoparathyroidism, deafness, renal disease syndrome
MedGen UID:
374443
Concept ID:
C1840333
Disease or Syndrome
HDR syndrome (HDRS), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Variable clinical features include hypogonadotrophic hypogonadism, polycystic ovaries, congenital heart disease, retinitis pigmentosa, and cognitive disability (Barakat et al., 2018).
Dahlberg-Borer-Newcomer syndrome
MedGen UID:
383693
Concept ID:
C1855477
Disease or Syndrome
A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities.
Craniofacial dysplasia - osteopenia syndrome
MedGen UID:
370148
Concept ID:
C1970027
Disease or Syndrome
A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2.
Autosomal dominant Kenny-Caffey syndrome
MedGen UID:
1373312
Concept ID:
C4316787
Disease or Syndrome
A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal.
X-linked Alport syndrome
MedGen UID:
1648433
Concept ID:
C4746986
Disease or Syndrome
In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. Approximately two thirds of AS is X-linked (XLAS); approximately 15% is autosomal recessive (ARAS), and approximately 20% is autosomal dominant (ADAS). In the absence of treatment, renal disease progresses from microscopic hematuria (microhematuria) to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with XLAS, and in all males and females with ARAS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In individuals with ADAS, ESRD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.
Vertebral anomalies and variable endocrine and T-cell dysfunction
MedGen UID:
1648299
Concept ID:
C4748741
Disease or Syndrome
Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome characterized by an overlapping spectrum of features. Skeletal malformations primarily involve the vertebrae, and endocrine abnormalities involving parathyroid hormone (PTH; 168450), growth hormone (GH1; 139250), and the thyroid gland have been reported. T-cell abnormalities have been observed, with some patients showing thymus gland aplasia or hypoplasia. Patients have mild craniofacial dysmorphism, and some show developmental delay or behavioral problems. Cardiac defects may be present (Liu et al., 2018).
Hypoparathyroidism, familial isolated 1
MedGen UID:
1713884
Concept ID:
C5241444
Disease or Syndrome
Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH; 168450) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels. Genetic Heterogeneity of Familial Isolated Hypoparathyroidism FIH2 (618883) is caused by mutation in the GCM2 gene (603716). An X-linked form of familial hypoparathyroidism, HYPX (307700), is caused by interstitial deletion/insertion on chromosome Xq27.1, which may have a position effect on expression of SOX3 (313430). Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, 188400) is usually a sporadic condition (Taitz et al., 1966).

Recent clinical studies

Etiology

Fırat SN, Kuşkonmaz ŞM, Önder ÇE, Omma T, Genç H, Çulha C
J Endocrinol Invest 2023 Jan;46(1):133-139. Epub 2022 Aug 18 doi: 10.1007/s40618-022-01891-7. PMID: 35982371
Edafe O, Tan ET, Jackson R, Sionis S, Balasubramanian SP, Beasley N
Ann R Coll Surg Engl 2023 Jan;105(1):62-67. Epub 2022 Feb 8 doi: 10.1308/rcsann.2021.0276. PMID: 35132880
Silva BC
Arch Endocrinol Metab 2022 Nov 11;66(5):642-650. doi: 10.20945/2359-3997000000553. PMID: 36382753
Yao L, Hui X, Li M, Li J, Ahmed MM, Lin C, Kandi M, Sreekanta A, Makhdami N, Tamilselvan D, Ali DS, Dandurand K, Yang K, Bilezikian JP, Brandi ML, Clarke BL, Mannstadt M, Rejnmark L, Khan AA, Guyatt G
J Bone Miner Res 2022 Dec;37(12):2642-2653. Epub 2022 Nov 14 doi: 10.1002/jbmr.4673. PMID: 36375810
Ayodele O, Rejnmark L, Mu F, Lax A, Berman R, Swallow E, Gosmanova EO
Adv Ther 2022 Nov;39(11):5013-5024. Epub 2022 Aug 26 doi: 10.1007/s12325-022-02292-1. PMID: 36018496Free PMC Article

Diagnosis

Clarke BL
Arch Endocrinol Metab 2022 Nov 11;66(5):604-610. doi: 10.20945/2359-3997000000549. PMID: 36382749
Yao L, Hui X, Li M, Li J, Ahmed MM, Lin C, Kandi M, Sreekanta A, Makhdami N, Tamilselvan D, Ali DS, Dandurand K, Yang K, Bilezikian JP, Brandi ML, Clarke BL, Mannstadt M, Rejnmark L, Khan AA, Guyatt G
J Bone Miner Res 2022 Dec;37(12):2642-2653. Epub 2022 Nov 14 doi: 10.1002/jbmr.4673. PMID: 36375810
Mannstadt M, Cianferotti L, Gafni RI, Giusti F, Kemp EH, Koch CA, Roszko KL, Yao L, Guyatt GH, Thakker RV, Xia W, Brandi ML
J Bone Miner Res 2022 Dec;37(12):2615-2629. Epub 2022 Nov 14 doi: 10.1002/jbmr.4667. PMID: 36375809
Wolf HW, Runkel N, Limberger K, Nebiker CA
Langenbecks Arch Surg 2022 Nov;407(7):3031-3038. Epub 2022 Jul 29 doi: 10.1007/s00423-022-02624-3. PMID: 35904639Free PMC Article
Ayodele O, Mu F, Berman R, Swallow E, Rejnmark L, Gosmanova EO, Kaul S
Adv Ther 2022 Aug;39(8):3845-3856. Epub 2022 Jun 11 doi: 10.1007/s12325-022-02198-y. PMID: 35696069Free PMC Article

Therapy

Edafe O, Tan ET, Jackson R, Sionis S, Balasubramanian SP, Beasley N
Ann R Coll Surg Engl 2023 Jan;105(1):62-67. Epub 2022 Feb 8 doi: 10.1308/rcsann.2021.0276. PMID: 35132880
Ayodele O, Rejnmark L, Mu F, Lax A, Berman R, Swallow E, Gosmanova EO
Adv Ther 2022 Nov;39(11):5013-5024. Epub 2022 Aug 26 doi: 10.1007/s12325-022-02292-1. PMID: 36018496Free PMC Article
Wolf HW, Runkel N, Limberger K, Nebiker CA
Langenbecks Arch Surg 2022 Nov;407(7):3031-3038. Epub 2022 Jul 29 doi: 10.1007/s00423-022-02624-3. PMID: 35904639Free PMC Article
Kiam JS, Sharma V, Glenister L, Fraser WD, Turner JJO
Clin Endocrinol (Oxf) 2022 Nov;97(5):562-567. Epub 2022 Jul 14 doi: 10.1111/cen.14798. PMID: 35792134Free PMC Article
Ayodele O, Mu F, Berman R, Swallow E, Rejnmark L, Gosmanova EO, Kaul S
Adv Ther 2022 Aug;39(8):3845-3856. Epub 2022 Jun 11 doi: 10.1007/s12325-022-02198-y. PMID: 35696069Free PMC Article

Prognosis

Clarke BL
Arch Endocrinol Metab 2022 Nov 11;66(5):604-610. doi: 10.20945/2359-3997000000549. PMID: 36382749
Yao L, Hui X, Li M, Li J, Ahmed MM, Lin C, Kandi M, Sreekanta A, Makhdami N, Tamilselvan D, Ali DS, Dandurand K, Yang K, Bilezikian JP, Brandi ML, Clarke BL, Mannstadt M, Rejnmark L, Khan AA, Guyatt G
J Bone Miner Res 2022 Dec;37(12):2642-2653. Epub 2022 Nov 14 doi: 10.1002/jbmr.4673. PMID: 36375810
Mannstadt M, Cianferotti L, Gafni RI, Giusti F, Kemp EH, Koch CA, Roszko KL, Yao L, Guyatt GH, Thakker RV, Xia W, Brandi ML
J Bone Miner Res 2022 Dec;37(12):2615-2629. Epub 2022 Nov 14 doi: 10.1002/jbmr.4667. PMID: 36375809
Ayodele O, Rejnmark L, Mu F, Lax A, Berman R, Swallow E, Gosmanova EO
Adv Ther 2022 Nov;39(11):5013-5024. Epub 2022 Aug 26 doi: 10.1007/s12325-022-02292-1. PMID: 36018496Free PMC Article
Kovaleva EV, Eremkina AK, Elfimova AR, Krupinova JA, Bibik EE, Maganeva IS, Gorbacheva AM, Dobreva EA, Melnichenko GA, Mokrysheva NG
Front Endocrinol (Lausanne) 2022;13:800119. Epub 2022 Feb 16 doi: 10.3389/fendo.2022.800119. PMID: 35250859Free PMC Article

Clinical prediction guides

Fırat SN, Kuşkonmaz ŞM, Önder ÇE, Omma T, Genç H, Çulha C
J Endocrinol Invest 2023 Jan;46(1):133-139. Epub 2022 Aug 18 doi: 10.1007/s40618-022-01891-7. PMID: 35982371
Silva BC
Arch Endocrinol Metab 2022 Nov 11;66(5):642-650. doi: 10.20945/2359-3997000000553. PMID: 36382753
Clarke BL
Arch Endocrinol Metab 2022 Nov 11;66(5):604-610. doi: 10.20945/2359-3997000000549. PMID: 36382749
Yao L, Hui X, Li M, Li J, Ahmed MM, Lin C, Kandi M, Sreekanta A, Makhdami N, Tamilselvan D, Ali DS, Dandurand K, Yang K, Bilezikian JP, Brandi ML, Clarke BL, Mannstadt M, Rejnmark L, Khan AA, Guyatt G
J Bone Miner Res 2022 Dec;37(12):2642-2653. Epub 2022 Nov 14 doi: 10.1002/jbmr.4673. PMID: 36375810
Mannstadt M, Cianferotti L, Gafni RI, Giusti F, Kemp EH, Koch CA, Roszko KL, Yao L, Guyatt GH, Thakker RV, Xia W, Brandi ML
J Bone Miner Res 2022 Dec;37(12):2615-2629. Epub 2022 Nov 14 doi: 10.1002/jbmr.4667. PMID: 36375809

Recent systematic reviews

Yao L, Hui X, Li M, Li J, Ahmed MM, Lin C, Kandi M, Sreekanta A, Makhdami N, Tamilselvan D, Ali DS, Dandurand K, Yang K, Bilezikian JP, Brandi ML, Clarke BL, Mannstadt M, Rejnmark L, Khan AA, Guyatt G
J Bone Miner Res 2022 Dec;37(12):2642-2653. Epub 2022 Nov 14 doi: 10.1002/jbmr.4673. PMID: 36375810
Mannstadt M, Cianferotti L, Gafni RI, Giusti F, Kemp EH, Koch CA, Roszko KL, Yao L, Guyatt GH, Thakker RV, Xia W, Brandi ML
J Bone Miner Res 2022 Dec;37(12):2615-2629. Epub 2022 Nov 14 doi: 10.1002/jbmr.4667. PMID: 36375809
Kim E, Ramonell KM, Mayfield N, Lindeman B
Am J Surg 2022 Apr;223(4):652-661. Epub 2021 Jul 20 doi: 10.1016/j.amjsurg.2021.07.025. PMID: 34304848
Koimtzis GD, Stefanopoulos L, Giannoulis K, Papavramidis TS
Endocrine 2021 Jul;73(1):1-7. Epub 2021 Mar 2 doi: 10.1007/s12020-021-02663-8. PMID: 33651345
Edafe O, Sandler LM, Beasley N, Balasubramanian SP
Eur Arch Otorhinolaryngol 2021 May;278(5):1337-1344. Epub 2020 Jul 22 doi: 10.1007/s00405-020-06213-2. PMID: 32700234Free PMC Article

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