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Gigantism

MedGen UID:
6602
•Concept ID:
C0017547
•
Disease or Syndrome
Synonym: Pituitary gigantism
SNOMED CT: Gigantism (80849007); Normal giant (80849007); Genetic giant (80849007); Primordial giant (80849007); Giant (80849007); Giantism (80849007); Pituitary gigantism (86073008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked dominant inheritance
MedGen UID:
376232
•Concept ID:
C1847879
•
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
See: This record
Autosomal dominant inheritance (Orphanet)
X-linked dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0020479
Orphanet: ORPHA99725

Definition

A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGigantism
Follow this link to review classifications for Gigantism in Orphanet.

Professional guidelines

PubMed

Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases.
Korbonits M, Blair JC, Boguslawska A, Ayuk J, Davies JH, Druce MR, Evanson J, Flanagan D, Glynn N, Higham CE, Jacques TS, Sinha S, Simmons I, Thorp N, Swords FM, Storr HL, Spoudeas HA
Nat Rev Endocrinol 2024 May;20(5):290-309. Epub 2024 Feb 9 doi: 10.1038/s41574-023-00949-7. PMID: 38336898
Diagnosis and Management of Pituitary Adenomas: A Review.
Tritos NA, Miller KK
JAMA 2023 Apr 25;329(16):1386-1398. doi: 10.1001/jama.2023.5444. PMID: 37097352
Pituitary gigantism: update on molecular biology and management.
Lodish MB, Trivellin G, Stratakis CA
Curr Opin Endocrinol Diabetes Obes 2016 Feb;23(1):72-80. doi: 10.1097/MED.0000000000000212. PMID: 26574647Free PMC Article

Recent clinical studies

Etiology

Endocrine Conditions and COVID-19.
Shekhar S, Wurth R, Kamilaris CDC, Eisenhofer G, Barrera FJ, Hajdenberg M, Tonleu J, Hall JE, Schiffrin EL, Porter F, Stratakis CA, Hannah-Shmouni F
Horm Metab Res 2020 Jul;52(7):471-484. Epub 2020 Jun 8 doi: 10.1055/a-1172-1352. PMID: 32512611Free PMC Article
The causes and consequences of pituitary gigantism.
Beckers A, Petrossians P, Hanson J, Daly AF
Nat Rev Endocrinol 2018 Dec;14(12):705-720. doi: 10.1038/s41574-018-0114-1. PMID: 30361628
AIP mutations and gigantism.
Rostomyan L, Potorac I, Beckers P, Daly AF, Beckers A
Ann Endocrinol (Paris) 2017 Jun;78(2):123-130. Epub 2017 May 5 doi: 10.1016/j.ando.2017.04.012. PMID: 28483363
Overgrowth.
Verge CF, Mowat D
Arch Dis Child 2010 Jun;95(6):458-63. Epub 2010 Apr 6 doi: 10.1136/adc.2009.157693. PMID: 20371592
Wiedemann-Beckwith syndrome.
Engström W, Lindham S, Schofield P
Eur J Pediatr 1988 Jun;147(5):450-7. doi: 10.1007/BF00441965. PMID: 3044795

Diagnosis

Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases.
Korbonits M, Blair JC, Boguslawska A, Ayuk J, Davies JH, Druce MR, Evanson J, Flanagan D, Glynn N, Higham CE, Jacques TS, Sinha S, Simmons I, Thorp N, Swords FM, Storr HL, Spoudeas HA
Nat Rev Endocrinol 2024 May;20(5):290-309. Epub 2024 Feb 9 doi: 10.1038/s41574-023-00949-7. PMID: 38336898
Diagnosis and Management of Pituitary Adenomas: A Review.
Tritos NA, Miller KK
JAMA 2023 Apr 25;329(16):1386-1398. doi: 10.1001/jama.2023.5444. PMID: 37097352
Pseudoacromegaly.
Marques P, Korbonits M
Front Neuroendocrinol 2019 Jan;52:113-143. Epub 2018 Nov 15 doi: 10.1016/j.yfrne.2018.11.001. PMID: 30448536
The causes and consequences of pituitary gigantism.
Beckers A, Petrossians P, Hanson J, Daly AF
Nat Rev Endocrinol 2018 Dec;14(12):705-720. doi: 10.1038/s41574-018-0114-1. PMID: 30361628
AIP mutations and gigantism.
Rostomyan L, Potorac I, Beckers P, Daly AF, Beckers A
Ann Endocrinol (Paris) 2017 Jun;78(2):123-130. Epub 2017 May 5 doi: 10.1016/j.ando.2017.04.012. PMID: 28483363

Therapy

Pseudoacromegaly-A challenging entity in the endocrine clinic: A systematic review.
Marques P, Sapinho I, Korbonits M
Clin Endocrinol (Oxf) 2024 Jun;100(6):542-557. Epub 2024 Mar 28 doi: 10.1111/cen.15053. PMID: 38549284
Diagnosis and Management of Pituitary Adenomas: A Review.
Tritos NA, Miller KK
JAMA 2023 Apr 25;329(16):1386-1398. doi: 10.1001/jama.2023.5444. PMID: 37097352
Genetics of obesity and overgrowth syndromes.
Sabin MA, Werther GA, Kiess W
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):207-20. doi: 10.1016/j.beem.2010.09.010. PMID: 21396586
Growth hormone and its disorders.
Ayuk J, Sheppard MC
Postgrad Med J 2006 Jan;82(963):24-30. doi: 10.1136/pgmj.2005.036087. PMID: 16397076Free PMC Article
Vascular and lymphatic tumors in infancy, childhood and adulthood: challenge of diagnosis and treatment.
Edgerton MT, Hiebert JM
Curr Probl Cancer 1978 Jan;2(7):1-44. doi: 10.1016/s0147-0272(78)80001-4. PMID: 373997

Prognosis

Tall stature: a difficult diagnosis?
Meazza C, Gertosio C, Giacchero R, Pagani S, Bozzola M
Ital J Pediatr 2017 Aug 3;43(1):66. doi: 10.1186/s13052-017-0385-5. PMID: 28774346Free PMC Article
X-LAG: How did they grow so tall?
Beckers A, Rostomyan L, Potorac I, Beckers P, Daly AF
Ann Endocrinol (Paris) 2017 Jun;78(2):131-136. Epub 2017 Apr 27 doi: 10.1016/j.ando.2017.04.013. PMID: 28457479
Acromegaly: clinical features at diagnosis.
Vilar L, Vilar CF, Lyra R, Lyra R, Naves LA
Pituitary 2017 Feb;20(1):22-32. doi: 10.1007/s11102-016-0772-8. PMID: 27812777
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article
A review of the osteopetroses.
Beighton P, Horan F, Hamersma H
Postgrad Med J 1977 Aug;53(622):507-16. doi: 10.1136/pgmj.53.622.507. PMID: 335376Free PMC Article

Clinical prediction guides

Diagnosis and Management of Pituitary Adenomas: A Review.
Tritos NA, Miller KK
JAMA 2023 Apr 25;329(16):1386-1398. doi: 10.1001/jama.2023.5444. PMID: 37097352
Tall stature: a difficult diagnosis?
Meazza C, Gertosio C, Giacchero R, Pagani S, Bozzola M
Ital J Pediatr 2017 Aug 3;43(1):66. doi: 10.1186/s13052-017-0385-5. PMID: 28774346Free PMC Article
X-LAG: How did they grow so tall?
Beckers A, Rostomyan L, Potorac I, Beckers P, Daly AF
Ann Endocrinol (Paris) 2017 Jun;78(2):131-136. Epub 2017 Apr 27 doi: 10.1016/j.ando.2017.04.013. PMID: 28457479
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article
Acromegaly.
Nabarro JD
Clin Endocrinol (Oxf) 1987 Apr;26(4):481-512. doi: 10.1111/j.1365-2265.1987.tb00805.x. PMID: 3308190

Recent systematic reviews

Pseudoacromegaly-A challenging entity in the endocrine clinic: A systematic review.
Marques P, Sapinho I, Korbonits M
Clin Endocrinol (Oxf) 2024 Jun;100(6):542-557. Epub 2024 Mar 28 doi: 10.1111/cen.15053. PMID: 38549284
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
Ameloblastoma associated with syndromes: A systematic review.
Atarbashi-Moghadam S, Atarbashi-Moghadam F, Sijanivandi S, Mokhtari S
J Stomatol Oral Maxillofac Surg 2020 Apr;121(2):146-149. Epub 2019 Jul 20 doi: 10.1016/j.jormas.2019.07.010. PMID: 31336213

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