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Elevated circulating calcitonin concentration

MedGen UID:
401432
Concept ID:
C1868394
Finding
Synonym: Elevated calcitonin
 
HPO: HP:0003528

Definition

Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating calcitonin concentration

Conditions with this feature

Multiple endocrine neoplasia, type 2a
MedGen UID:
9958
Concept ID:
C0025268
Neoplastic Process
Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.
Multiple endocrine neoplasia, type 2b
MedGen UID:
9959
Concept ID:
C0025269
Neoplastic Process
Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.
Acrodysostosis 1 with or without hormone resistance
MedGen UID:
477858
Concept ID:
C3276228
Disease or Syndrome
Acrodysostosis-1 (ACRDYS1) is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of Acrodysostosis See also ACRDYS2 (614613), caused by mutation in the PDE4D gene (600129) on chromosome 5q12.

Recent clinical studies

Etiology

Gárate G, Pascual M, Rivero M, Toriello M, Pérez-Pereda S, González-Quintanilla V, Madera J, Gutiérrez-Cuadra M, Fariñas MDC, Hernández JL, Olmos JM, Pascual J
Arch Med Res 2023 Jan;54(1):56-63. Epub 2022 Dec 30 doi: 10.1016/j.arcmed.2022.12.002. PMID: 36588002Free PMC Article
Brocca A, Virzì GM, de Cal M, Giavarina D, Carta M, Ronco C
Scand J Surg 2017 Dec;106(4):318-324. Epub 2017 Mar 1 doi: 10.1177/1457496916683096. PMID: 28737097
Gangula PR, Wimalawansa SJ, Yallampalli C
Hum Reprod 2000 Apr;15(4):949-53. doi: 10.1093/humrep/15.4.949. PMID: 10739848
Dubin NH, Monahan LK, Yu-Yahiro JA, Michael RH, Zimmerman SI, Hawkes W, Hebel JR, Fox KM, Magaziner J
J Gerontol A Biol Sci Med Sci 1999 Sep;54(9):M467-73. doi: 10.1093/gerona/54.9.m467. PMID: 10536650
Bendtsen F, Schifter S, Henriksen JH
J Hepatol 1991 Jan;12(1):118-23. doi: 10.1016/0168-8278(91)90920-7. PMID: 2007768

Diagnosis

Kilinc YB, Kilinc E, Danis A, Hanci F, Turay S, Ozge A, Bolay H
Headache 2023 Sep;63(8):1076-1086. Epub 2023 Aug 19 doi: 10.1111/head.14618. PMID: 37596867
Giannakopoulos K, Hoffmann U, Ansari U, Bertsch T, Borggrefe M, Akin I, Behnes M
Curr Pharm Biotechnol 2017;18(6):499-507. doi: 10.2174/1389201018666170601080111. PMID: 28571560
Gamcrlidze MM, Intskirveli NA, Vardosanidze KD, Chikhladze KhE, Goliadze LSh, Ratiani LR
Georgian Med News 2015 Feb;(239):56-62. PMID: 25802451
Müller B, Becker KL, Kränzlin M, Schächinger H, Huber PR, Nylèn ES, Snider RH, White JC, Schmidt-Gayk H, Zimmerli W, Ritz R
Eur J Clin Invest 2000 Sep;30(9):823-31. doi: 10.1046/j.1365-2362.2000.00714.x. PMID: 10998084
Lambert PW, Heath H 3rd, Sizemore GW
J Clin Invest 1979 Apr;63(4):602-8. doi: 10.1172/JCI109342. PMID: 438324Free PMC Article

Therapy

Kwofie L, Rapoport BL, Fickl H, Meyer PW, Rheeder P, Hlope H, Anderson R, Tintinger GR
Ann Hematol 2012 Apr;91(4):605-11. doi: 10.1007/s00277-011-1339-4. PMID: 21976106
Höcherl K, Färber L, Ladenburger S, Vosshage D, Stratz T, Müller W, Grobecker H
Scand J Rheumatol Suppl 2000;113:46-8. doi: 10.1080/030097400446634. PMID: 11028831
Gangula PR, Wimalawansa SJ, Yallampalli C
Hum Reprod 2000 Apr;15(4):949-53. doi: 10.1093/humrep/15.4.949. PMID: 10739848
Dubin NH, Monahan LK, Yu-Yahiro JA, Michael RH, Zimmerman SI, Hawkes W, Hebel JR, Fox KM, Magaziner J
J Gerontol A Biol Sci Med Sci 1999 Sep;54(9):M467-73. doi: 10.1093/gerona/54.9.m467. PMID: 10536650
Amino N, Kuro R, Yabu Y, Takai SI, Kawashima M, Morimoto S, Ichihara K, Miyai K, Kumahara Y
J Clin Endocrinol Metab 1981 Mar;52(3):457-62. doi: 10.1210/jcem-52-3-457. PMID: 6893991

Prognosis

Brocca A, Virzì GM, de Cal M, Giavarina D, Carta M, Ronco C
Scand J Surg 2017 Dec;106(4):318-324. Epub 2017 Mar 1 doi: 10.1177/1457496916683096. PMID: 28737097
Giannakopoulos K, Hoffmann U, Ansari U, Bertsch T, Borggrefe M, Akin I, Behnes M
Curr Pharm Biotechnol 2017;18(6):499-507. doi: 10.2174/1389201018666170601080111. PMID: 28571560
Gamcrlidze MM, Intskirveli NA, Vardosanidze KD, Chikhladze KhE, Goliadze LSh, Ratiani LR
Georgian Med News 2015 Feb;(239):56-62. PMID: 25802451
Höcherl K, Färber L, Ladenburger S, Vosshage D, Stratz T, Müller W, Grobecker H
Scand J Rheumatol Suppl 2000;113:46-8. doi: 10.1080/030097400446634. PMID: 11028831
Pacini F, Elisei R, Anelli S, Gasperini L, Schipani E, Pinchera A
Int J Biol Markers 1986 May-Aug;1(2):85-8. doi: 10.1177/172460088600100205. PMID: 3429944

Clinical prediction guides

Brocca A, Virzì GM, de Cal M, Giavarina D, Carta M, Ronco C
Scand J Surg 2017 Dec;106(4):318-324. Epub 2017 Mar 1 doi: 10.1177/1457496916683096. PMID: 28737097
Giannakopoulos K, Hoffmann U, Ansari U, Bertsch T, Borggrefe M, Akin I, Behnes M
Curr Pharm Biotechnol 2017;18(6):499-507. doi: 10.2174/1389201018666170601080111. PMID: 28571560
Höcherl K, Färber L, Ladenburger S, Vosshage D, Stratz T, Müller W, Grobecker H
Scand J Rheumatol Suppl 2000;113:46-8. doi: 10.1080/030097400446634. PMID: 11028831
Gangula PR, Wimalawansa SJ, Yallampalli C
Hum Reprod 2000 Apr;15(4):949-53. doi: 10.1093/humrep/15.4.949. PMID: 10739848
Amino N, Kuro R, Yabu Y, Takai SI, Kawashima M, Morimoto S, Ichihara K, Miyai K, Kumahara Y
J Clin Endocrinol Metab 1981 Mar;52(3):457-62. doi: 10.1210/jcem-52-3-457. PMID: 6893991

Recent systematic reviews

Giannakopoulos K, Hoffmann U, Ansari U, Bertsch T, Borggrefe M, Akin I, Behnes M
Curr Pharm Biotechnol 2017;18(6):499-507. doi: 10.2174/1389201018666170601080111. PMID: 28571560

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