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Parathyroid dysgenesis

MedGen UID:
868792
•Concept ID:
C4023197
•
Anatomical Abnormality
HPO: HP:0011768

Definition

Abnormal embryonic development of the parathyroid gland. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParathyroid dysgenesis

Professional guidelines

PubMed

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.
Sarac Sivrikoz T, Kalayci T, Senturk L, Karaman V, Kalelioglu IH, Has R, Kayserili H, Uyguner ZO, Nishimura G, Altunoglu U
Prenat Diagn 2022 Nov;42(12):1503-1510. Epub 2022 Jul 20 doi: 10.1002/pd.6208. PMID: 35808914
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
Pereda A, Garin I; Spanish Network for Imprinting Disorders, Perez de Nanclares G
BMC Med Genet 2018 Mar 2;19(1):32. doi: 10.1186/s12881-018-0530-z. PMID: 29499646Free PMC Article
Commentary on: hypocalcemia following treatment for hyperthyroidism.
Zimmerman D
Clin Chem 2011 Jun;57(6):814. doi: 10.1373/clinchem.2010.159095. PMID: 21622924

Recent clinical studies

Etiology

Non-Neoplastic Thoracic Cysts: A Clinicopathologic Study of 136 Cases.
Weissferdt A
Am J Surg Pathol 2023 Dec 1;47(12):1349-1363. Epub 2023 Aug 29 doi: 10.1097/PAS.0000000000002115. PMID: 37642507
Hypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study.
Hawkes CP, Roy SM, Dekelbab B, Frazier B, Grover M, Haidet J, Listman J, Madsen S, Roan M, Rodd C, Sopher A, Tebben P, Levine MA
J Clin Endocrinol Metab 2021 Jan 23;106(2):e485-e495. doi: 10.1210/clinem/dgaa759. PMID: 33124662Free PMC Article
Endocrine tumors as part of inherited tumor syndromes.
Zhang Y, Nosé V
Adv Anat Pathol 2011 May;18(3):206-18. doi: 10.1097/PAP.0b013e3182169916. PMID: 21490438
Some chondrodysplasias with short limbs: molecular perspectives.
Cohen MM Jr
Am J Med Genet 2002 Oct 15;112(3):304-13. doi: 10.1002/ajmg.10780. PMID: 12357475
The genetic basis of the osteochondrodysplasias.
Baitner AC, Maurer SG, Gruen MB, Di Cesare PE
J Pediatr Orthop 2000 Sep-Oct;20(5):594-605. doi: 10.1097/00004694-200009000-00010. PMID: 11008738

Diagnosis

DiGeorge syndrome: consider the diagnosis.
Altshuler E, Saidi A, Budd J
BMJ Case Rep 2022 Feb 2;15(2) doi: 10.1136/bcr-2021-245164. PMID: 35110278Free PMC Article
Skin manifestations of endocrine and neuroendocrine tumors.
Leventhal JS, Braverman IM
Semin Oncol 2016 Jun;43(3):335-40. Epub 2016 Feb 23 doi: 10.1053/j.seminoncol.2016.02.022. PMID: 27178685
Approach to the Child with Hypercalcaemia.
Davies JH
Endocr Dev 2015;28:101-118. Epub 2015 Jun 12 doi: 10.1159/000380998. PMID: 26138838
A Practical Approach to Hypocalcaemia in Children.
Shaw NJ
Endocr Dev 2015;28:84-100. Epub 2015 Jun 12 doi: 10.1159/000380997. PMID: 26138837
Endocrine disorders in children.
Chernausek SD, Leslie ND, Bloch CA, Sperling MA
Surg Clin North Am 1985 Dec;65(6):1527-49. doi: 10.1016/s0039-6109(16)43785-0. PMID: 2866586

Therapy

Hypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study.
Hawkes CP, Roy SM, Dekelbab B, Frazier B, Grover M, Haidet J, Listman J, Madsen S, Roan M, Rodd C, Sopher A, Tebben P, Levine MA
J Clin Endocrinol Metab 2021 Jan 23;106(2):e485-e495. doi: 10.1210/clinem/dgaa759. PMID: 33124662Free PMC Article
Approach to the Child with Hypercalcaemia.
Davies JH
Endocr Dev 2015;28:101-118. Epub 2015 Jun 12 doi: 10.1159/000380998. PMID: 26138838
Endocrinology.
Baxter MA, Sheppard MC
Postgrad Med J 1991 Jan;67(783):23-32. doi: 10.1136/pgmj.67.783.23. PMID: 2057422Free PMC Article
Pseudohypoparathyroidism.
Werder EA
Ergeb Inn Med Kinderheilkd 1979;42:191-221. doi: 10.1007/978-3-642-67239-2_4. PMID: 380983
Endocrine surgery in children.
Schwartz DL, Gann DS, Haller JA Jr
Surg Clin North Am 1974 Apr;54(2):363-85. doi: 10.1016/s0039-6109(16)40285-9. PMID: 4361606

Prognosis

Hypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study.
Hawkes CP, Roy SM, Dekelbab B, Frazier B, Grover M, Haidet J, Listman J, Madsen S, Roan M, Rodd C, Sopher A, Tebben P, Levine MA
J Clin Endocrinol Metab 2021 Jan 23;106(2):e485-e495. doi: 10.1210/clinem/dgaa759. PMID: 33124662Free PMC Article
Parathyroid carcinoma.
Sandelin K
Cancer Treat Res 1997;89:183-92. doi: 10.1007/978-1-4615-6355-6_9. PMID: 9204193
Congenital anomalies of the branchial apparatus: embryology and pathologic anatomy.
Benson MT, Dalen K, Mancuso AA, Kerr HH, Cacciarelli AA, Mafee MF
Radiographics 1992 Sep;12(5):943-60. doi: 10.1148/radiographics.12.5.1529135. PMID: 1529135
Neonatal hyperparathyroidism.
Dezateux CA, Hyde JC, Hoey HM, O'Riordan JL, Spitz L, Taylor GW, Grant DB
Eur J Pediatr 1984 Jun;142(2):135-6. doi: 10.1007/BF00445595. PMID: 6468429
Sudden death in babies: epidemiology.
Froggatt P, Lynas MA, Marshall TK
Am J Cardiol 1968 Oct;22(4):457-68. doi: 10.1016/0002-9149(68)90152-5. PMID: 4880100

Clinical prediction guides

Serum vitamin D status following pediatric cardiac surgery and association with clinical outcome.
Dohain AM, Almogati J, Al-Radi OO, Elassal AA, Zaher ZF, Fatani TH, Abdulgawad A, Abdelmohsen G
Eur J Pediatr 2020 Apr;179(4):635-643. Epub 2019 Dec 21 doi: 10.1007/s00431-019-03538-x. PMID: 31865429
Pseudoxanthoma Elasticum-Like in β-Thalassemia Major, a matter of α-Klotho and Parathyroid Hormone?
Baldan A, Giusti A, Bosi C, Malaventura C, Forni G, Borgna-Pignatti C
Hemoglobin 2017 Jul-Nov;41(4-6):254-259. Epub 2017 Dec 11 doi: 10.1080/03630269.2017.1403927. PMID: 29226737
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
Thomas-Teinturier C, Pereda A, Garin I, Diez-Lopez I, Linglart A, Silve C, de Nanclares GP
Am J Med Genet A 2016 Mar;170(3):734-42. Epub 2015 Dec 6 doi: 10.1002/ajmg.a.37490. PMID: 26640227
The transcription factor Foxc1 is necessary for Ihh-Gli2-regulated endochondral ossification.
Yoshida M, Hata K, Takashima R, Ono K, Nakamura E, Takahata Y, Murakami T, Iseki S, Takano-Yamamoto T, Nishimura R, Yoneda T
Nat Commun 2015 Mar 26;6:6653. doi: 10.1038/ncomms7653. PMID: 25808752
Congenital anomalies of the branchial apparatus: embryology and pathologic anatomy.
Benson MT, Dalen K, Mancuso AA, Kerr HH, Cacciarelli AA, Mafee MF
Radiographics 1992 Sep;12(5):943-60. doi: 10.1148/radiographics.12.5.1529135. PMID: 1529135

Recent systematic reviews

Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
Schigt H, Bald M, van der Eerden BCJ, Gal L, Ilenwabor BP, Konrad M, Levine MA, Li D, Mache CJ, Mackin S, Perry C, Rios FJ, Schlingmann KP, Storey B, Trapp CM, Verkerk AJMH, Zillikens MC, Touyz RM, Hoorn EJ, Hoenderop JGJ, de Baaij JHF
J Clin Endocrinol Metab 2023 Aug 18;108(9):e754-e768. doi: 10.1210/clinem/dgad147. PMID: 36916904Free PMC Article
The otolaryngologic manifestations of Sotos syndrome 1: A systematic review.
Danis DO 3rd, Bodamer O, Levi JR
Int J Pediatr Otorhinolaryngol 2021 Apr;143:110649. Epub 2021 Feb 12 doi: 10.1016/j.ijporl.2021.110649. PMID: 33640723
Are neuroendocrine tumours a feature of tuberous sclerosis? A systematic review.
Dworakowska D, Grossman AB
Endocr Relat Cancer 2009 Mar;16(1):45-58. Epub 2008 Oct 31 doi: 10.1677/ERC-08-0142. PMID: 18978035

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