Pituitary Dwarfism (Concept Id: C0013338) - NCBI

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Create FileAdd to ClipboardAdd to Collections Pituitary dwarfismMedGen UID: 8506 •Concept ID: C0013338 •Disease or Syndrome
Synonyms: Dwarfism, Growth Hormone Deficiency; Dwarfism, Pituitary; Growth Hormone Deficiency Dwarfism; Hyposomatotrophic Dwarfism; Isolated GH Deficiency; Isolated Growth Hormone Deficiency; Isolated HGH Deficiency; Isolated Human Growth Hormone Deficiency; Isolated Somatotropin Deficiency; Isolated Somatotropin Deficiency Disorder; Nanism, Pituitary; Pituitary Dwarfism; Pituitary Nanism
SNOMED CT: Lorain-Levi dwarfism (7530009); Lorain - Levi dwarfism (367460001); Pituitary dwarfism (367460001); Hypopituitary dwarfism (367460001); Pituitary nanism (367460001); Hyposomatotropic dwarfism (367460001); Prepubertal dwarfism (367460001); Isolated deficiency of growth hormone in children (367460001); Prepuberal dwarfism (367460001)
 
HPO: HP:0000839
Monarch Initiative: MONDO:0006909
Definition A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones. [from HPO] Term Hierarchy
  • GTR
  • MeSH
  • Orphanet
CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPituitary dwarfism
  • Disease
    • Disorder by Site
      • Connective and Soft Tissue Disorder
        • Connective tissue disorder
          • Disorder of bone
            • Bone Diseases, Endocrine
              • Pituitary dwarfism
Follow this link to review classifications for Pituitary dwarfism in Orphanet. Conditions with this feature Autosomal dominant isolated somatotropin deficiencyMedGen UID: 124405 •Concept ID: C0271567 •Disease or Syndrome Type II IGHD is an autosomal dominant disorder characterized by low but detectable levels of growth hormone (GH), variable height deficit and age at presentation, and good response to rhGH. Patients may show anterior pituitary hypoplasia on MRI (summary by Phillips and Cogan, 1994; Alatzoglou and Dattani, 2012). See: Condition Record Pituitary dwarfism with large sella turcicaMedGen UID: 78778 •Concept ID: C0271575 •Disease or Syndrome See: Condition Record Panhypopituitarism, X-linkedMedGen UID: 87439 •Concept ID: C0342376 •Disease or Syndrome See: Condition Record Short stature due to growth hormone qualitative anomalyMedGen UID: 340412 •Concept ID: C1849779 •Disease or Syndrome Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal or slightly increased GH secretion, pathologically low IGF1 (147440) levels, and normal catch-up growth on GH replacement therapy (Besson et al., 2005). See: Condition Record Short stature-pituitary and cerebellar defects-small sella turcica syndromeMedGen UID: 394816 •Concept ID: C2678408 •Disease or Syndrome Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor <i>LHX4</i> gene (1q25). See: Condition Record Non-acquired combined pituitary hormone deficiency with spine abnormalitiesMedGen UID: 483740 •Concept ID: C3489787 •Disease or Syndrome Combined pituitary hormone deficiency-3 (CPHD3) is an autosomal recessive disorder characterized by hypopituitarism with structural anterior pituitary defects and cervical abnormalities with or without restricted neck rotation. Some patients have sensorineural hearing loss (summary by Rajab et al., 2008). For a discussion of phenotypic and genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038). See: Condition Record Autosomal dominant isolated somatotropin deficiency Non-acquired combined pituitary hormone deficiency with spine abnormalities Panhypopituitarism, X-linked Pituitary dwarfism with large sella turcica Short stature due to growth hormone qualitative anomaly Short stature-pituitary and cerebellar defects-small sella turcica syndrome Professional guidelines

PubMed

Treatment of pituitary dwarfism with authentic recombinant human growth hormone (SM-9500). Takano K, Shizume K, Hibi I, Okuno A, Hanyu K, Suwa S, Nakajima H, Kondo T, Kato K, Iwatani N Endocrinol Jpn 1987 Apr;34(2):291-7. doi: 10.1507/endocrj1954.34.291. PMID: 3622395 Treatment of idiopathic pituitary dwarfism with methionyl human growth hormone. Takano K, Shizume K, Hizuka N, Hibi I, Kato K, Kohno H, Kondo T, Ogawa M, Okada Y, Sudo M Endocrinol Jpn 1983 Aug;30(4):523-7. doi: 10.1507/endocrj1954.30.523. PMID: 6671456 Serum levels of somatomedin A and growth during long-term treatment of patients with pituitary dwarfism with human growth hormone. Takano K, Hizuka N, Shizume K, Hasumi Y Acta Endocrinol (Copenh) 1979 Nov;92(3):385-97. doi: 10.1530/acta.0.0920385. PMID: 229685 See all (13) These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the FAQ for details.These guidelines are manually curated by the MedGen team to supplement articles available in PubMed. See the FAQ for details. Recent clinical studiesAdditional literature that covers other topics related to this disease may be found in PubMed

Etiology

Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns. Stagi S, Ferrari V, Ferrari M, Priolo M, Tartaglia M Front Endocrinol (Lausanne) 2022;13:951331. Epub 2022 Aug 18 doi: 10.3389/fendo.2022.951331. PMID: 36060964Free PMC Article Treatment Adherence to Injectable Treatments in Pediatric Growth Hormone Deficiency Compared With Injectable Treatments in Other Chronic Pediatric Conditions: A Systematic Literature Review. Gomez R, Ahmed SF, Maghnie M, Li D, Tanaka T, Miller BS Front Endocrinol (Lausanne) 2022;13:795224. Epub 2022 Mar 1 doi: 10.3389/fendo.2022.795224. PMID: 35299969Free PMC Article Skeletal disorders associated with the growth hormone-insulin-like growth factor 1 axis. Mazziotti G, Lania AG, Canalis E Nat Rev Endocrinol 2022 Jun;18(6):353-365. Epub 2022 Mar 14 doi: 10.1038/s41574-022-00649-8. PMID: 35288658 GH and IGF-1 Replacement in Children. Pfäffle R, Kiess W Handb Exp Pharmacol 2020;261:67-86. doi: 10.1007/164_2019_337. PMID: 31932988 AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF GROWTH HORMONE DEFICIENCY IN ADULTS AND PATIENTS TRANSITIONING FROM PEDIATRIC TO ADULT CARE. Yuen KCJ, Biller BMK, Radovick S, Carmichael JD, Jasim S, Pantalone KM, Hoffman AR Endocr Pract 2019 Nov;25(11):1191-1232. doi: 10.4158/GL-2019-0405. PMID: 31760824 See all (94)

Diagnosis

The landscape of retesting in childhood-onset idiopathic growth hormone deficiency and its reversibility: a systematic review and meta-analysis. Laurer E, Sirovina A, Blaschitz A, Tischlinger K, Montero-Lopez R, Hörtenhuber T, Wimleitner M, Högler W Eur J Endocrinol 2022 Aug 1;187(2):265-278. Epub 2022 Jun 29 doi: 10.1530/EJE-21-1179. PMID: 35670597 Concerns over pituitary dwarfism in Tibetan terriers. Tempest M Vet Rec 2021 Jul;189(1):36-37. doi: 10.1002/vetr.706. PMID: 34241873 AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF GROWTH HORMONE DEFICIENCY IN ADULTS AND PATIENTS TRANSITIONING FROM PEDIATRIC TO ADULT CARE. Yuen KCJ, Biller BMK, Radovick S, Carmichael JD, Jasim S, Pantalone KM, Hoffman AR Endocr Pract 2019 Nov;25(11):1191-1232. doi: 10.4158/GL-2019-0405. PMID: 31760824 Nodding syndrome phenotypes. Spencer PS, Mazumder R, Palmer VS, Pollanen MS Rev Neurol (Paris) 2019 Dec;175(10):679-685. Epub 2019 Nov 18 doi: 10.1016/j.neurol.2019.09.005. PMID: 31753452 Pituitary dwarfism. Desai M, Colaco MP, Samuel AM, Vaidya RA Indian Pediatr 1985 Jan;22(1):13-22. PMID: 4077255 See all (95)

Therapy

Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort. Maghnie M, Ranke MB, Geffner ME, Vlachopapadopoulou E, Ibáñez L, Carlsson M, Cutfield W, Rooman R, Gomez R, Wajnrajch MP, Linglart A, Stawerska R, Clayton PE, Darendeliler F, Hokken-Koelega ACS, Horikawa R, Tanaka T, Dörr HG, Albertsson-Wikland K, Polak M, Grimberg A J Clin Endocrinol Metab 2022 Nov 25;107(12):3287-3301. doi: 10.1210/clinem/dgac517. PMID: 36102184Free PMC Article Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns. Stagi S, Ferrari V, Ferrari M, Priolo M, Tartaglia M Front Endocrinol (Lausanne) 2022;13:951331. Epub 2022 Aug 18 doi: 10.3389/fendo.2022.951331. PMID: 36060964Free PMC Article Global perspective on pediatric growth hormone registries: a systematic review. Eslami P, Sayarifard F, Safdari R, Shahmoradi L, Karbasi Z J Pediatr Endocrinol Metab 2022 Jun 27;35(6):709-726. Epub 2022 May 16 doi: 10.1515/jpem-2022-0045. PMID: 35567286 MITOL dysfunction causes dwarfism with anterior pituitary hypoplasia. Matsuno K, Nagashima S, Shiiba I, Taniwaka K, Takeda K, Tokuyama T, Ito N, Matsushita N, Fukuda T, Ishido S, Inatome R, Yanagi S J Biochem 2020 Sep 1;168(3):305-312. doi: 10.1093/jb/mvaa050. PMID: 32302394 Oldest pituitary dwarf? Caplan HL, Martin FI Br Med J 1967 Sep 30;3(5569):842. doi: 10.1136/bmj.3.5569.842. PMID: 6036436Free PMC Article See all (111)

Prognosis

Beyond Growth Hormone: Association of Short Stature Types and Growth Hormones With Scoliosis. Hong H, Hu J, Xu H, Xia D, Pan X, Chen X, Guo Q, Zhang S, Chen J, Wu Y, Leng H, Zhang X, Wang X, Huang C Spine (Phila Pa 1976) 2024 Feb 15;49(4):221-231. Epub 2023 Oct 20 doi: 10.1097/BRS.0000000000004853. PMID: 37871182 Somatotropic Axis, Pace of Life and Aging. Bartke A Front Endocrinol (Lausanne) 2022;13:916139. Epub 2022 Jul 14 doi: 10.3389/fendo.2022.916139. PMID: 35909509Free PMC Article Global perspective on pediatric growth hormone registries: a systematic review. Eslami P, Sayarifard F, Safdari R, Shahmoradi L, Karbasi Z J Pediatr Endocrinol Metab 2022 Jun 27;35(6):709-726. Epub 2022 May 16 doi: 10.1515/jpem-2022-0045. PMID: 35567286 Mutations in GH1 gene and isolated growth hormone deficiency (IGHD): A familial case of IGHD type I and systematic review. Li Q, Xu Z, Zhang M, Zhao Z, Sun B, Yang L, Lu W, Luo F, Sun C Growth Horm IGF Res 2021 Oct-Dec;60-61:101423. Epub 2021 Aug 3 doi: 10.1016/j.ghir.2021.101423. PMID: 34375817 Population Pharmacokinetics and Pharmacodynamics of Once-Daily Growth Hormone Norditropin(®) in Children and Adults. Papathanasiou T, Agersø H, Damholt BB, Højby Rasmussen M, Kildemoes RJ Clin Pharmacokinet 2021 Sep;60(9):1217-1226. Epub 2021 Apr 17 doi: 10.1007/s40262-021-01011-3. PMID: 33864240Free PMC Article See all (24)

Clinical prediction guides

Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort. Maghnie M, Ranke MB, Geffner ME, Vlachopapadopoulou E, Ibáñez L, Carlsson M, Cutfield W, Rooman R, Gomez R, Wajnrajch MP, Linglart A, Stawerska R, Clayton PE, Darendeliler F, Hokken-Koelega ACS, Horikawa R, Tanaka T, Dörr HG, Albertsson-Wikland K, Polak M, Grimberg A J Clin Endocrinol Metab 2022 Nov 25;107(12):3287-3301. doi: 10.1210/clinem/dgac517. PMID: 36102184Free PMC Article Global perspective on pediatric growth hormone registries: a systematic review. Eslami P, Sayarifard F, Safdari R, Shahmoradi L, Karbasi Z J Pediatr Endocrinol Metab 2022 Jun 27;35(6):709-726. Epub 2022 May 16 doi: 10.1515/jpem-2022-0045. PMID: 35567286 Treatment Adherence to Injectable Treatments in Pediatric Growth Hormone Deficiency Compared With Injectable Treatments in Other Chronic Pediatric Conditions: A Systematic Literature Review. Gomez R, Ahmed SF, Maghnie M, Li D, Tanaka T, Miller BS Front Endocrinol (Lausanne) 2022;13:795224. Epub 2022 Mar 1 doi: 10.3389/fendo.2022.795224. PMID: 35299969Free PMC Article Population Pharmacokinetics and Pharmacodynamics of Once-Daily Growth Hormone Norditropin(®) in Children and Adults. Papathanasiou T, Agersø H, Damholt BB, Højby Rasmussen M, Kildemoes RJ Clin Pharmacokinet 2021 Sep;60(9):1217-1226. Epub 2021 Apr 17 doi: 10.1007/s40262-021-01011-3. PMID: 33864240Free PMC Article AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF GROWTH HORMONE DEFICIENCY IN ADULTS AND PATIENTS TRANSITIONING FROM PEDIATRIC TO ADULT CARE. Yuen KCJ, Biller BMK, Radovick S, Carmichael JD, Jasim S, Pantalone KM, Hoffman AR Endocr Pract 2019 Nov;25(11):1191-1232. doi: 10.4158/GL-2019-0405. PMID: 31760824 See all (79) Recent systematic reviews The influence of growth hormone on pediatric body composition: A systematic review. Ferruzzi A, Vrech M, Pietrobelli A, Cavarzere P, Zerman N, Guzzo A, Flodmark CE, Piacentini G, Antoniazzi F Front Endocrinol (Lausanne) 2023;14:1093691. Epub 2023 Feb 9 doi: 10.3389/fendo.2023.1093691. PMID: 36843617Free PMC Article The landscape of retesting in childhood-onset idiopathic growth hormone deficiency and its reversibility: a systematic review and meta-analysis. Laurer E, Sirovina A, Blaschitz A, Tischlinger K, Montero-Lopez R, Hörtenhuber T, Wimleitner M, Högler W Eur J Endocrinol 2022 Aug 1;187(2):265-278. Epub 2022 Jun 29 doi: 10.1530/EJE-21-1179. PMID: 35670597 Global perspective on pediatric growth hormone registries: a systematic review. Eslami P, Sayarifard F, Safdari R, Shahmoradi L, Karbasi Z J Pediatr Endocrinol Metab 2022 Jun 27;35(6):709-726. Epub 2022 May 16 doi: 10.1515/jpem-2022-0045. PMID: 35567286 Treatment Adherence to Injectable Treatments in Pediatric Growth Hormone Deficiency Compared With Injectable Treatments in Other Chronic Pediatric Conditions: A Systematic Literature Review. Gomez R, Ahmed SF, Maghnie M, Li D, Tanaka T, Miller BS Front Endocrinol (Lausanne) 2022;13:795224. Epub 2022 Mar 1 doi: 10.3389/fendo.2022.795224. PMID: 35299969Free PMC Article Mutations in GH1 gene and isolated growth hormone deficiency (IGHD): A familial case of IGHD type I and systematic review. Li Q, Xu Z, Zhang M, Zhao Z, Sun B, Yang L, Lu W, Luo F, Sun C Growth Horm IGF Res 2021 Oct-Dec;60-61:101423. Epub 2021 Aug 3 doi: 10.1016/j.ghir.2021.101423. PMID: 34375817 See all (6)

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