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Elevated circulating growth hormone concentration

MedGen UID:
66732
Concept ID:
C0235986
Finding
Synonym: Growth hormone excess
 
HPO: HP:0000845

Definition

Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating growth hormone concentration

Conditions with this feature

Multiple endocrine neoplasia, type 1
MedGen UID:
9957
Concept ID:
C0025267
Neoplastic Process
Multiple endocrine neoplasia type 1 (MEN1) includes varying combinations of more than 20 endocrine and non-endocrine tumors. Endocrine tumors become evident either by overproduction of hormones by the tumor or by growth of the tumor itself. Parathyroid tumors are the most common MEN1-associated endocrinopathy; onset in 90% of individuals is between ages 20 and 25 years with hypercalcemia evident by age 50 years; hypercalcemia causes lethargy, depression, confusion, anorexia, constipation, nausea, vomiting, diuresis, dehydration, hypercalciuria, kidney stones, increased bone resorption/fracture risk, hypertension, and shortened QT interval. Pituitary tumors include prolactinoma (the most common), which manifests as oligomenorrhea/amenorrhea and galactorrhea in females and sexual dysfunction in males. Well-differentiated endocrine tumors of the gastro-entero-pancreatic (GEP) tract can manifest as Zollinger-Ellison syndrome (gastrinoma); hypoglycemia (insulinoma); hyperglycemia, anorexia, glossitis, anemia, diarrhea, venous thrombosis, and skin rash (glucagonoma); and watery diarrhea, hypokalemia, and achlorhydria syndrome (vasoactive intestinal peptide [VIP]-secreting tumor). Carcinoid tumors are non-hormone-secreting and can manifest as a large mass after age 50 years. Adrenocortical tumors can be associated with primary hypercortisolism or hyperaldosteronism. Non-endocrine tumors include facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas, and leiomyomas.
McCune-Albright syndrome
MedGen UID:
69164
Concept ID:
C0242292
Disease or Syndrome
Fibrous dysplasia / McCune-Albright syndrome (FD/MAS), the result of an early embryonic postzygotic somatic activating pathogenic variant in GNAS (encoding the cAMP pathway-associated G-protein, Gsa), is characterized by involvement of the skin, skeleton, and certain endocrine organs. However, because Gsa signaling is ubiquitous, additional tissues may be affected. Café au lait skin macules are common and are usually the first manifestation of the disease, apparent at or shortly after birth. Fibrous dysplasia (FD), which can involve any part and combination of the craniofacial, axial, and/or appendicular skeleton, can range from an isolated, asymptomatic monostotic lesion discovered incidentally to severe disabling polyostotic disease involving practically the entire skeleton and leading to progressive scoliosis, facial deformity, and loss of mobility, vision, and/or hearing. Endocrinopathies include: Gonadotropin-independent precocious puberty resulting from recurrent ovarian cysts in girls and autonomous testosterone production in boys; Testicular lesions with or without associated gonadotropin-independent precocious puberty; Thyroid lesions with or without non-autoimmune hyperthyroidism; Growth hormone excess; FGF23-mediated phosphate wasting with or without hypophosphatemia in association with fibrous dysplasia; and Neonatal hypercortisolism. The prognosis for individuals with FD/MAS is based on disease location and severity.
Growth delay due to insulin-like growth factor type 1 deficiency
MedGen UID:
373337
Concept ID:
C1837475
Disease or Syndrome
Insulin-like growth factor I deficiency (IGF1D) is characterized by severe pre- and postnatal growth failure, sensorineural deafness, and impaired motor and intellectual development (summary by Bonapace et al., 2003).
Multiple endocrine neoplasia type 4
MedGen UID:
373469
Concept ID:
C1970712
Neoplastic Process
Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.\n\nThe major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms.\n\nMany different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue.\n\nMultiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.\n\nThe most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family.
Carney complex, type 1
MedGen UID:
388559
Concept ID:
C2607929
Disease or Syndrome
Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and can manifest as intracardiac obstruction of blood flow, embolic phenomenon, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in most adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are nonfunctioning thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.
X-linked acrogigantism due to Xq26 microduplication
MedGen UID:
856021
Concept ID:
C3891556
Disease or Syndrome
X-linked acrogigantism is the occurrence of pituitary gigantism in an individual heterozygous or hemizygous for a germline or somatic duplication of GPR101. X-linked acrogigantism is characterized by acceleration of linear growth in early childhood – in most cases during the first two years of life – due to growth hormone (GH) excess. Most individuals with X-linked acrogigantism present with associated hyperprolactinemia due to a mixed GH- and prolactin-secreting pituitary adenoma with or without associated hyperplasia; less commonly they develop diffuse hyperplasia of the GH- and prolactin-secreting pituitary cells without a pituitary adenoma. Most affected individuals are females. Growth acceleration is the main presenting feature; other frequently observed clinical features include enlargement of hands and feet, coarsening of the facial features, and increased appetite. Neurologic signs or symptoms are rarely present. Untreated X-linked acrogigantism can lead to markedly increased stature, with obvious severe physical and psychological sequelae.
Pituitary adenoma, growth hormone-secreting, 2
MedGen UID:
860846
Concept ID:
C4012409
Neoplastic Process
Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene.
Somatotroph adenoma
MedGen UID:
1618709
Concept ID:
C4538355
Neoplastic Process
AIP familial isolated pituitary adenoma (AIP-FIPA) is defined as the presence of an AIP germline pathogenic variant in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and nonfunctioning pituitary adenomas (NFPA). Rarely TSH-secreting adenomas (thyrotropinomas) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-FIPA is usually in the second or third decade.

Professional guidelines

PubMed

Backeljauw PF, Andrews M, Bang P, Dalle Molle L, Deal CL, Harvey J, Langham S, Petriczko E, Polak M, Storr HL, Dattani MT
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Recent clinical studies

Etiology

Li J, Yang L, Song J, Yan B, Morris AJ, Moseley H, Flight R, Wang C, Liu J, Weiss HL, Morris EF, Abdelhamid I, Gerl MJ, Melander O, Smyth S, Evers BM
Atherosclerosis 2024 May;392:117479. Epub 2024 Feb 15 doi: 10.1016/j.atherosclerosis.2024.117479. PMID: 38423808Free PMC Article
Yamada S, Nakano T
J Atheroscler Thromb 2023 Aug 1;30(8):835-850. Epub 2023 May 30 doi: 10.5551/jat.RV22006. PMID: 37258233Free PMC Article
Ursic-Bedoya J, Chavey C, Desandré G, Meunier L, Dupuy AM, Gonzalez-Dopeso Reyes I, Tordjmann T, Assénat E, Hibner U, Gregoire D
Mol Metab 2022 Jun;60:101483. Epub 2022 Mar 31 doi: 10.1016/j.molmet.2022.101483. PMID: 35367668Free PMC Article
Kuczera P, Adamczak M, Wiecek A
Toxins (Basel) 2016 Dec 8;8(12) doi: 10.3390/toxins8120369. PMID: 27941640Free PMC Article
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Diagnosis

Hage M, Kamenický P, Chanson P
Neuroendocrinology 2019;108(3):244-255. Epub 2019 Jan 25 doi: 10.1159/000497214. PMID: 30685760
Nimptsch K, Pischon T
Recent Results Cancer Res 2016;208:199-217. doi: 10.1007/978-3-319-42542-9_11. PMID: 27909909
Smith ER
Clin J Am Soc Nephrol 2014 Jul;9(7):1283-303. Epub 2014 Feb 27 doi: 10.2215/CJN.10941013. PMID: 24578336Free PMC Article
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Endocrinol Metab Clin North Am 1996 Sep;25(3):649-63. doi: 10.1016/s0889-8529(05)70345-5. PMID: 8879991
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Therapy

van Heemst D
Nat Rev Endocrinol 2024 Jan;20(1):5-15. Epub 2023 Nov 3 doi: 10.1038/s41574-023-00911-7. PMID: 37923847
Cimino I, Kim H, Tung YCL, Pedersen K, Rimmington D, Tadross JA, Kohnke SN, Neves-Costa A, Barros A, Joaquim S, Bennett D, Melvin A, Lockhart SM, Rostron AJ, Scott J, Liu H, Burling K, Barker P, Clatworthy MR, Lee EC, Simpson AJ, Yeo GSH, Moita LF, Bence KK, Jørgensen SB, Coll AP, Breen DM, O'Rahilly S
Proc Natl Acad Sci U S A 2021 Jul 6;118(27) doi: 10.1073/pnas.2106868118. PMID: 34187898Free PMC Article
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Prognosis

Li J, Yang L, Song J, Yan B, Morris AJ, Moseley H, Flight R, Wang C, Liu J, Weiss HL, Morris EF, Abdelhamid I, Gerl MJ, Melander O, Smyth S, Evers BM
Atherosclerosis 2024 May;392:117479. Epub 2024 Feb 15 doi: 10.1016/j.atherosclerosis.2024.117479. PMID: 38423808Free PMC Article
Yamada S, Nakano T
J Atheroscler Thromb 2023 Aug 1;30(8):835-850. Epub 2023 May 30 doi: 10.5551/jat.RV22006. PMID: 37258233Free PMC Article
Ursic-Bedoya J, Chavey C, Desandré G, Meunier L, Dupuy AM, Gonzalez-Dopeso Reyes I, Tordjmann T, Assénat E, Hibner U, Gregoire D
Mol Metab 2022 Jun;60:101483. Epub 2022 Mar 31 doi: 10.1016/j.molmet.2022.101483. PMID: 35367668Free PMC Article
Ray A, Cleary MP
Cytokine Growth Factor Rev 2017 Dec;38:80-97. Epub 2017 Nov 11 doi: 10.1016/j.cytogfr.2017.11.002. PMID: 29158066Free PMC Article
Kuczera P, Adamczak M, Wiecek A
Toxins (Basel) 2016 Dec 8;8(12) doi: 10.3390/toxins8120369. PMID: 27941640Free PMC Article

Clinical prediction guides

Li J, Yang L, Song J, Yan B, Morris AJ, Moseley H, Flight R, Wang C, Liu J, Weiss HL, Morris EF, Abdelhamid I, Gerl MJ, Melander O, Smyth S, Evers BM
Atherosclerosis 2024 May;392:117479. Epub 2024 Feb 15 doi: 10.1016/j.atherosclerosis.2024.117479. PMID: 38423808Free PMC Article
van Heemst D
Nat Rev Endocrinol 2024 Jan;20(1):5-15. Epub 2023 Nov 3 doi: 10.1038/s41574-023-00911-7. PMID: 37923847
Hage M, Kamenický P, Chanson P
Neuroendocrinology 2019;108(3):244-255. Epub 2019 Jan 25 doi: 10.1159/000497214. PMID: 30685760
Smith ER
Clin J Am Soc Nephrol 2014 Jul;9(7):1283-303. Epub 2014 Feb 27 doi: 10.2215/CJN.10941013. PMID: 24578336Free PMC Article
Kovesdy CP, Quarles LD
Nephrol Dial Transplant 2013 Sep;28(9):2228-36. Epub 2013 Apr 25 doi: 10.1093/ndt/gft065. PMID: 23625971Free PMC Article

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