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(Growth hormone increased in acromegaly and gigantism)
33 results
  • Pseudoacromegaly Associated with Non-Functioning Pituitary Adenoma. [Journal Article]
    Eur J Case Rep Intern Med. 2020; 7(12):001950.Alotaibi A, Habib A, … Alzahrani F
  • Acromegaly is characterized by excess skin and soft tissue growth due to increased growth hormone (GH) levels. Patients with similar physical findings but without somatotroph axis abnormalities are considered to have pseudoacromegaly. The list of pseudoacromegaly differential diagnoses is long. It may be caused by several congenital and acquired conditions and diagnosis can be challenging due to …
  • miR-34a is upregulated in AIP-mutated somatotropinomas and promotes octreotide resistance. [Journal Article]
    Int J Cancer. 2020 Dec 15; 147(12):3523-3538.Bogner EM, Daly AF, … Pellegata NS
  • Pituitary adenomas (PAs) are intracranial tumors associated with significant morbidity due to hormonal dysregulation, mass effects and have a heavy treatment burden. Growth hormone (GH)-secreting PAs (somatotropinomas) cause acromegaly-gigantism. Genetic forms of somatotropinomas due to germline AIP mutations (AIPmut+) have an early onset and are aggressive and resistant to treatment with somatos…
  • GeneReviews®: Carney Complex [BOOK]
    GeneReviews®. University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AStratakis CA, Raygada MBOOK
  • 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, embol…
  • GeneReviews®: X-Linked Acrogigantism [BOOK]
    GeneReviews®. University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AIacovazzo D, Korbonits MBOOK
  • 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 asso…
  • Insulin-mediated pseudoacromegaly: a report of two pediatric patients. [Case Reports]
    J Pediatr Endocrinol Metab. 2018 Jan 26; 31(2):235-238.Inman M, Nour MA
  • CONCLUSIONS: Pediatric patients with insulin-mediated pseudoacromegaly are at risk of significant physical, metabolic and psychosocial comorbidities. Unlike adults, the implications in childhood prompt consideration for therapies to decelerate linear growth and avert progression to metabolic dysregulation. Increased recognition of this condition may improve pathophysiological understanding, diagnostic criteria and therapeutic options.
  • [Overgrowth in children and in adults: novel clinical view, novel genes, novel phenotypes]. [Journal Article]
    Cas Lek Cesk. Fall 2017; 156(5):233-240.Lebl J, Plachý L, … Průhová Š
  • Novel genetic findings allow to more reliably elucidate the aetiology and pathogenesis of overgrowth syndromes in children and in adults. The relatively prevalent overgrowth syndromes in foetuses and neonates include Beckwith-Wiedemann (BWS) and Sotos syndromes; in addition, several rare conditions may occur e.g. Simpson-Golabi-Behmel and Weaver syndromes. These syndromes are not connected with o…
  • Tall stature: a difficult diagnosis? [Review]
    Ital J Pediatr. 2017 Aug 03; 43(1):66.Meazza C, Gertosio C, … Bozzola M
  • Referral for an assessment of tall stature is less common than for short stature. Tall stature is defined as a height more than two standard deviations above the mean for age. The majority of subjects with tall stature show a familial tall stature or a constitutional advance of growth (CAG), which is a diagnosis of exclusion. After a careful physical evaluation, tall subjects may be divided into …
  • Acromegaly: clinical features at diagnosis. [Review]
    Pituitary. 2017 Feb; 20(1):22-32.Vilar L, Vilar CF, … Naves LA
  • CONCLUSIONS: Acromegaly affects both males and females equally and the average age at diagnosis ranges from 40 to 50 years (up to 5% of cases < the age 20). Due to insidious onset and slow progression, acromegaly is often diagnosed five to more than ten years after its onset. The typical coarsening of facial features include furrowing of fronthead, pronounced brow protrusion, enlargement of the nose and the ears, thickening of the lips, skin wrinkles and nasolabial folds, as well as mandibular prognathism that leads to dental malocclusion and increased interdental spacing. Excessive growth of hands and feet (predominantly due to soft tissue swelling) is present in the vast majority of acromegalic patients. Gigantism accounts for up to 5% of cases and occurs when the excess of GH becomes manifest in the young, before the epiphyseal fusion. The disease also has rheumatologic, cardiovascular, respiratory, neoplastic, neurological, and metabolic manifestations which negatively impact its prognosis and patients quality of life. Less than 15% of acromegalic patients actively seek medical attention for change in appearance or enlargement of the extremities. The presentation of acromegaly is more often related to its systemic comorbidities or to local tumor effects.
  • Gigantism: X-linked acrogigantism and GPR101 mutations. [Review]
    Growth Horm IGF Res. 2016 Oct - Dec; 30-31:64-69.Iacovazzo D, Korbonits M
  • X-linked acrogigantism (XLAG) is a recently identified condition of early-onset GH excess resulting from the germline or somatic duplication of the GPR101 gene on chromosome Xq26.3. Thirty patients have been formally reported so far. The disease affects mostly females, occurs usually sporadically, and is characterised by early onset and marked overgrowth. Most patients present with concomitant hy…
  • Genetics of gigantism and acromegaly. [Review]
    Growth Horm IGF Res. 2016 Oct - Dec; 30-31:37-41.Hannah-Shmouni F, Trivellin G, Stratakis CA
  • Gigantism and acromegaly are rare disorders that are caused by excessive GH secretion and/or high levels of its mediator, IGF-1. Gigantism occurs when excess GH or IGF-1 lead to increased linear growth, before the end of puberty and epiphyseal closure. The majority of cases arise from a benign GH-secreting pituitary adenoma, with an incidence of pituitary gigantism and acromegaly of approximately…
  • Traditional and novel aspects of the metabolic actions of growth hormone. [Journal Article]
    Growth Horm IGF Res. 2016 06; 28:69-75.Sperling MA
  • Growth hormone has been known to be diabetogenic for almost a century and it's diabetogenic properties fostered consideration of excessive and abnormal GH secretion as a cause of diabetes, as well as a role in the microvascular complications, especially retinopathy. However, besides inducing insulin resistance, GH also is lipolytic and a major anabolic hormone for nitrogen retention and protein s…
  • Is IGSF1 involved in human pituitary tumor formation? [Journal Article]
    Endocr Relat Cancer. 2015 Feb; 22(1):47-54.Faucz FR, Horvath AD, … Stratakis CA
  • IGSF1 is a membrane glycoprotein highly expressed in the anterior pituitary. Pathogenic mutations in the IGSF1 gene (on Xq26.2) are associated with X-linked central hypothyroidism and testicular enlargement in males. In this study, we tested the hypothesis that IGSF1 is involved in the development of pituitary tumors, especially those that produce growth hormone (GH). IGSF1 was sequenced in 21 pa…
  • Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. [Journal Article]
    N Engl J Med. 2014 Dec 18; 371(25):2363-74.Trivellin G, Daly AF, … Stratakis CA
  • CONCLUSIONS: We describe a pediatric disorder (which we have termed X-linked acrogigantism [X-LAG]) that is caused by an Xq26.3 genomic duplication and is characterized by early-onset gigantism resulting from an excess of growth hormone. Duplication of GPR101 probably causes X-LAG. We also found a recurrent mutation in GPR101 in some adults with acromegaly. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others.).
  • The cardiovascular phenotype of a mouse model of acromegaly. [Journal Article]
    Growth Horm IGF Res. 2009 Oct; 19(5):413-9.Izzard AS, Emerson M, … Heagerty AM
  • CONCLUSIONS: In this transgenic mouse model of acromegaly, there is cardiac and vascular hypertrophy commensurate with GH excess but normal function. Our findings support the contention that the excess mortality in this condition may be due to the development of hypertrophic cardiomyopathy rather than increased rates of atherosclerotic coronary artery disease.
  • Growth hormone receptor antagonists: discovery and potential uses. [Review]
    Growth Horm IGF Res. 2001 Jun; 11 Suppl A:S103-9.Kopchick JJ, Okada S
  • Serum levels of growth hormone (GH) in the human body vary and can influence the levels of insulin-like growth factor I (IGF-1). Low levels of GH can result in a dwarf phenotype and have been positively correlated with an increased life expectancy. High levels of GH can lead to gigantism or a clinical syndrome termed acromegaly, and also have been implicated in diabetic eye and kidney damage. Add…
  • Biological effects of growth hormone and its antagonist. [Review]
    Trends Mol Med. 2001 Mar; 7(3):126-32.Okada S, Kopchick JJ
  • Serum levels of growth hormone (GH) can vary. Low levels of GH can result in a dwarf phenotype and have been positively correlated with an increased life expectancy. High levels of GH can lead to gigantism or a clinical syndrome termed acromegaly and has been implicated in diabetic eye and kidney damage. Additionally the GH/IGF-1 system has been postulated as a risk factor for several types of ca…
  • Gps mutations in Chilean patients harboring growth hormone-secreting pituitary tumors. [Case Reports]
    J Pediatr Endocrinol Metab. 1999 May-Jun; 12(3):381-7.Johnson MC, Codner E, … Cassorla F
  • Hypersecretion of GH is usually caused by a pituitary adenoma and about 40% of these tumors exhibit missense gsp mutations in Arg201 or Gln227 of the Gs, gene. We studied 20 pituitary tumors obtained from patients with GH hypersecretion. One tumor was resected from an 11 year-old boy with a 3 year history of accelerated growth, associated with increased concentrations of serum GH and IGF-I, which…
  • Pyodermia chronica glutealis complicated by acromegalic gigantism. [Case Reports]
    J Dermatol. 1998 Apr; 25(4):242-5.Nishijima S, Kasahara M, … Tsubura A
  • We report a case of pyodermia chronica glutealis complicated by acromegalic gigantism associated with hyperprolactinemia. The serum prolactin, growth hormone, adrenocorticotropic hormone, and 11-deoxycortisol levels were elevated, but the estradiol and dehydroepiandrosterone-sulphate levels were within normal limits. However, the testosterone level was very low. Histopathologically, we found sinu…
  • Endocrinological evaluation of GH deficient patient with acromegaloidism showing excessive growth. [Case Reports]
    Endocrinol Jpn. 1992 Feb; 39(1):59-64.Iwatani N, Kodama M, Miike T
  • In this report we describe the first case of a girl with acromegaloidism in Japan. She had large and coarse facial features with acral enlargement accompanying height overgrowth; these resemble the manifestations of acromegaly and gigantism due to growth hormone (GH) overproduction. However, pituitary function studies revealed a dysfunction of her GH secretion. Moreover, markedly decreased serum …
  • [Active acromegaly and gigantism: some clinical characteristics of 50 patients]. [Journal Article]
    Rev Med Chil. 1991 Aug; 119(8):897-907.Pumarino H, Oviedo S, … Campino C
  • 50 patients with autonomous growth hormone excess (48 with adult acromegaly and 2 with gigantism) were studied between 1966 to 1986 (2.38 pts/year). Characteristic clinical presentation, an increase in growth hormone (GH) uninhibited by glucose, and/or hyperphosphemia and hyperhydroxiprolinuria were present in all patients. No cases of hypercalcemia were recorded. Phosphemia was increased in 55.8…
  • Vascular remodeling in the growth hormone transgenic mouse. [Journal Article]
    Circ Res. 1989 Nov; 65(5):1233-40.Dilley RJ, Schwartz SM
  • Using mice transgenic for the growth hormone gene (TGHM), we have studied the effects of a systemic elevation of growth hormone on vascular growth with the aim of investigating the role of vascular mass changes in producing hypertension. In contrast to human acromegaly or gigantism, there was no elevation of blood pressure in TGHM, but there were significant increases in vascular wall mass. In ac…
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