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Pituitary dwarfism

MedGen 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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPituitary dwarfism
Follow this link to review classifications for Pituitary dwarfism in Orphanet.

Conditions with this feature

Autosomal dominant isolated somatotropin deficiency
MedGen 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).
Pituitary dwarfism with large sella turcica
MedGen UID:
78778
Concept ID:
C0271575
Disease or Syndrome
Panhypopituitarism, X-linked
MedGen UID:
87439
Concept ID:
C0342376
Disease or Syndrome
Short stature due to growth hormone qualitative anomaly
MedGen 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).
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
MedGen 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).
Non-acquired combined pituitary hormone deficiency with spine abnormalities
MedGen 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).

Professional guidelines

PubMed

Kim JH, Chae HW, Chin SO, Ku CR, Park KH, Lim DJ, Kim KJ, Lim JS, Kim G, Choi YM, Ahn SH, Jeon MJ, Hwangbo Y, Lee JH, Kim BK, Choi YJ, Lee KA, Moon SS, Ahn HY, Choi HS, Hong SM, Shin DY, Seo JA, Kim SH, Oh S, Yu SH, Kim BJ, Shin CH, Kim SW, Kim CH, Lee EJ
Endocrinol Metab (Seoul) 2020 Jun;35(2):272-287. Epub 2020 Jun 24 doi: 10.3803/EnM.2020.35.2.272. PMID: 32615711Free PMC Article
Takano K, Shizume K, Hizuka N, Hibi I, Kato K, Kohno H, Kondo T, Ogawa M, Okada Y, Sudo M
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MARTIN MM, WILKINS L
J Clin Endocrinol Metab 1958 Jul;18(7):679-93. doi: 10.1210/jcem-18-7-679. PMID: 13549546

Recent clinical studies

Etiology

Maniatis AK, Casella SJ, Nadgir UM, Hofman PL, Saenger P, Chertock ED, Aghajanova EM, Korpal-Szczyrska M, Vlachopapadopoulou E, Malievskiy O, Chaychenko T, Cappa M, Song W, Mao M, Mygind PH, Smith AR, Chessler SD, Komirenko AS, Beckert M, Shu AD, Thornton PS
J Clin Endocrinol Metab 2022 Jun 16;107(7):e2680-e2689. doi: 10.1210/clinem/dgac217. PMID: 35428884Free PMC Article
Deal CL, Steelman J, Vlachopapadopoulou E, Stawerska R, Silverman LA, Phillip M, Kim HS, Ko C, Malievskiy O, Cara JF, Roland CL, Taylor CT, Valluri SR, Wajnrajch MP, Pastrak A, Miller BS
J Clin Endocrinol Metab 2022 Jun 16;107(7):e2717-e2728. doi: 10.1210/clinem/dgac220. PMID: 35405011Free PMC Article
Thornton PS, Maniatis AK, Aghajanova E, Chertok E, Vlachopapadopoulou E, Lin Z, Song W, Christoffersen ED, Breinholt VM, Kovalenko T, Giorgadze E, Korpal-Szczyrska M, Hofman PL, Karpf DB, Shu AD, Beckert M
J Clin Endocrinol Metab 2021 Oct 21;106(11):3184-3195. doi: 10.1210/clinem/dgab529. PMID: 34272849Free PMC Article
Johannsson G, Gordon MB, Højby Rasmussen M, Håkonsson IH, Karges W, Sværke C, Tahara S, Takano K, Biller BMK
J Clin Endocrinol Metab 2020 Apr 1;105(4):e1358-76. doi: 10.1210/clinem/dgaa049. PMID: 32022863Free PMC Article
Sävendahl L, Battelino T, Brod M, Højby Rasmussen M, Horikawa R, Juul RV, Saenger P; REAL 3 study group
J Clin Endocrinol Metab 2020 Apr 1;105(4):e1847-61. doi: 10.1210/clinem/dgz310. PMID: 31917835Free PMC Article

Diagnosis

Yau M, Rapaport R
Front Endocrinol (Lausanne) 2022;13:902364. Epub 2022 Jun 9 doi: 10.3389/fendo.2022.902364. PMID: 35757429Free PMC Article
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
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
Chinoy A, Murray PG
Best Pract Res Clin Endocrinol Metab 2016 Dec;30(6):737-747. Epub 2016 Nov 4 doi: 10.1016/j.beem.2016.11.002. PMID: 27974187
Antoniazzi F, Cavarzere P, Gaudino R
Minerva Endocrinol 2015 Jun;40(2):129-43. PMID: 25734895

Therapy

Miller BS
Front Endocrinol (Lausanne) 2022;13:980979. Epub 2022 Aug 22 doi: 10.3389/fendo.2022.980979. PMID: 36072938Free PMC Article
Miller BS, Blair JC, Rasmussen MH, Maniatis A, Kildemoes RJ, Mori J, Polak M, Bang RB, Böttcher V, Stagi S, Horikawa R
J Clin Endocrinol Metab 2022 Nov 25;107(12):3378-3388. doi: 10.1210/clinem/dgac513. PMID: 36062966Free PMC Article
Deal CL, Steelman J, Vlachopapadopoulou E, Stawerska R, Silverman LA, Phillip M, Kim HS, Ko C, Malievskiy O, Cara JF, Roland CL, Taylor CT, Valluri SR, Wajnrajch MP, Pastrak A, Miller BS
J Clin Endocrinol Metab 2022 Jun 16;107(7):e2717-e2728. doi: 10.1210/clinem/dgac220. PMID: 35405011Free PMC Article
Sävendahl L, Battelino T, Højby Rasmussen M, Brod M, Saenger P, Horikawa R
J Clin Endocrinol Metab 2022 Apr 19;107(5):1357-1367. doi: 10.1210/clinem/dgab928. PMID: 34964458Free PMC Article
Thornton PS, Maniatis AK, Aghajanova E, Chertok E, Vlachopapadopoulou E, Lin Z, Song W, Christoffersen ED, Breinholt VM, Kovalenko T, Giorgadze E, Korpal-Szczyrska M, Hofman PL, Karpf DB, Shu AD, Beckert M
J Clin Endocrinol Metab 2021 Oct 21;106(11):3184-3195. doi: 10.1210/clinem/dgab529. PMID: 34272849Free PMC Article

Prognosis

Thornton PS, Maniatis AK, Aghajanova E, Chertok E, Vlachopapadopoulou E, Lin Z, Song W, Christoffersen ED, Breinholt VM, Kovalenko T, Giorgadze E, Korpal-Szczyrska M, Hofman PL, Karpf DB, Shu AD, Beckert M
J Clin Endocrinol Metab 2021 Oct 21;106(11):3184-3195. doi: 10.1210/clinem/dgab529. PMID: 34272849Free PMC Article
Johannsson G, Gordon MB, Højby Rasmussen M, Håkonsson IH, Karges W, Sværke C, Tahara S, Takano K, Biller BMK
J Clin Endocrinol Metab 2020 Apr 1;105(4):e1358-76. doi: 10.1210/clinem/dgaa049. PMID: 32022863Free PMC Article
Sävendahl L, Battelino T, Brod M, Højby Rasmussen M, Horikawa R, Juul RV, Saenger P; REAL 3 study group
J Clin Endocrinol Metab 2020 Apr 1;105(4):e1847-61. doi: 10.1210/clinem/dgz310. PMID: 31917835Free PMC Article
Chinoy A, Murray PG
Best Pract Res Clin Endocrinol Metab 2016 Dec;30(6):737-747. Epub 2016 Nov 4 doi: 10.1016/j.beem.2016.11.002. PMID: 27974187
Prader A
Clin Endocrinol Metab 1975 Mar;4(1):143-55. doi: 10.1016/s0300-595x(75)80037-5. PMID: 166776

Clinical prediction guides

Hou L, Huang K, Gong C, Luo F, Wei H, Liang L, Du H, Zhang J, Zhong Y, Chen R, Chen X, Pan J, Jin X, Zeng T, Liao W, Liu D, Lan D, Zhu S, Dong Z, Ma H, Yang Y, Xiong F, Lu P, Cheng S, Gu X, Jin R, Liu Y, Wu J, Xu X, Chen L, Dong Q, Pan H, Su Z, Liu L, Luo X, Ni S, Chen Z, Hu Y, Wang C, Liu J, Liu L, Lu B, Wang X, Wang Y, Yang F, Zhang M, Cao L, Liu G, Yao H, Zhan Y, Dai M, Li G, Li L, Liu Y, Wang K, Xiao Y, Zhang X, Dong J, Gu Z, Ying L, Huang F, Liu Y, Liu Z, Ye J, Zhao D, Hu X, Jiang Z, Ye K, Zhu H, Chen S, Chen X, Wan N, Xu Z, Yin Q, Zhang H, Huang X, Yin J, Zhang H, Li P, Yin P, Fu J, Luo X
J Clin Endocrinol Metab 2023 Jul 14;108(8):2078-2086. doi: 10.1210/clinem/dgad039. PMID: 36669772Free PMC Article
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
Miller BS, Blair JC, Rasmussen MH, Maniatis A, Kildemoes RJ, Mori J, Polak M, Bang RB, Böttcher V, Stagi S, Horikawa R
J Clin Endocrinol Metab 2022 Nov 25;107(12):3378-3388. doi: 10.1210/clinem/dgac513. PMID: 36062966Free PMC Article
Deal CL, Steelman J, Vlachopapadopoulou E, Stawerska R, Silverman LA, Phillip M, Kim HS, Ko C, Malievskiy O, Cara JF, Roland CL, Taylor CT, Valluri SR, Wajnrajch MP, Pastrak A, Miller BS
J Clin Endocrinol Metab 2022 Jun 16;107(7):e2717-e2728. doi: 10.1210/clinem/dgac220. PMID: 35405011Free PMC Article
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

Recent systematic reviews

Olwi D, Day F, Ong K
Horm Res Paediatr 2024;97(1):1-10. Epub 2023 Apr 19 doi: 10.1159/000530578. PMID: 37075730
Mameli C, Orso M, Calcaterra V, Wasniewska MG, Aversa T, Granato S, Bruschini P, Guadagni L, d'Angela D, Spandonaro F, Polistena B, Zuccotti G
Pharmacol Res 2023 Jul;193:106805. Epub 2023 May 24 doi: 10.1016/j.phrs.2023.106805. PMID: 37236413
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
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
Kokshoorn NE, Biermasz NR, Roelfsema F, Smit JW, Pereira AM, Romijn JA
Eur J Endocrinol 2011 May;164(5):657-65. Epub 2011 Feb 21 doi: 10.1530/EJE-10-1170. PMID: 21339335

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