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Short stature due to partial GHR deficiency(GHIP; GHDP)

MedGen UID:
346958
Concept ID:
C1858656
Disease or Syndrome
Synonyms: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL; GROWTH HORMONE INSENSITIVITY, PARTIAL; Growth hormone, insensitivity to, partial; Short stature, idiopathic, autosomal
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Gene (location): GHR (5p13.1-12)
 
Monarch Initiative: MONDO:0011420
OMIM®: 604271
Orphanet: ORPHA314802

Definition

Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. [from ORDO]

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Decreased serum insulin-like growth factor 1
MedGen UID:
892792
Concept ID:
C4072897
Finding
A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort stature due to partial GHR deficiency

Professional guidelines

PubMed

Wit JM, Joustra SD, Losekoot M, van Duyvenvoorde HA, de Bruin C
Horm Res Paediatr 2021;94(3-4):81-104. Epub 2021 Jun 4 doi: 10.1159/000516407. PMID: 34091447

Recent clinical studies

Etiology

Meyer S, Ipek M, Keth A, Minnemann T, von Mach MA, Weise A, Ittner JR, Nawroth PP, Plöckinger U, Stalla GK, Tuschy U, Weber MM, Kann PH; German KIMS Board; German KIMS Pharmacogenetics Study Group
Growth Horm IGF Res 2007 Aug;17(4):307-14. Epub 2007 Apr 25 doi: 10.1016/j.ghir.2007.03.001. PMID: 17462934
Rakover Y, Silbergeld A, Lavi I, Masalha R, Shlomo IB
Eur J Endocrinol 2002 Mar;146(3):319-23. doi: 10.1530/eje.0.1460319. PMID: 11888837
Johnston LB, Pashankar F, Camacho-Hübner C, Savage MO, Clark AJ
Clin Endocrinol (Oxf) 2000 Apr;52(4):463-9. doi: 10.1046/j.1365-2265.2000.00940.x. PMID: 10762289
Rosenbloom AL, Guevara-Aguirre J, Berg MA, Francke U
J Clin Endocrinol Metab 1998 Jul;83(7):2373-5. doi: 10.1210/jcem.83.7.4972. PMID: 9661611
Amselem S, Sobrier ML, Dastot F, Duquesnoy P, Duriez B, Goossens M
Baillieres Clin Endocrinol Metab 1996 Jul;10(3):353-69. doi: 10.1016/s0950-351x(96)80485-x. PMID: 8853444

Diagnosis

Wit JM, Joustra SD, Losekoot M, van Duyvenvoorde HA, de Bruin C
Horm Res Paediatr 2021;94(3-4):81-104. Epub 2021 Jun 4 doi: 10.1159/000516407. PMID: 34091447
Porto WF, Marques FA, Pogue HB, de Oliveira Cardoso MT, do Vale MGR, da Silva Pires Á, Franco OL, de Alencar SA, Pogue R
J Cell Biochem 2017 Dec;118(12):4762-4771. Epub 2017 Jun 9 doi: 10.1002/jcb.26144. PMID: 28523647
Meyer S, Ipek M, Keth A, Minnemann T, von Mach MA, Weise A, Ittner JR, Nawroth PP, Plöckinger U, Stalla GK, Tuschy U, Weber MM, Kann PH; German KIMS Board; German KIMS Pharmacogenetics Study Group
Growth Horm IGF Res 2007 Aug;17(4):307-14. Epub 2007 Apr 25 doi: 10.1016/j.ghir.2007.03.001. PMID: 17462934
Savage MO, Blair JC, Jorge AJ, Street ME, Ranke MB, Camacho-Hübner C
Endocr Dev 2005;9:100-106. doi: 10.1159/000085760. PMID: 15879692
Rosenbloom AL
Horm Metab Res 1999 Feb-Mar;31(2-3):161-71. doi: 10.1055/s-2007-978715. PMID: 10226798

Therapy

Rosenbloom AL, Guevara-Aguirre J, Berg MA, Francke U
J Clin Endocrinol Metab 1998 Jul;83(7):2373-5. doi: 10.1210/jcem.83.7.4972. PMID: 9661611

Prognosis

Porto WF, Marques FA, Pogue HB, de Oliveira Cardoso MT, do Vale MGR, da Silva Pires Á, Franco OL, de Alencar SA, Pogue R
J Cell Biochem 2017 Dec;118(12):4762-4771. Epub 2017 Jun 9 doi: 10.1002/jcb.26144. PMID: 28523647

Clinical prediction guides

Porto WF, Marques FA, Pogue HB, de Oliveira Cardoso MT, do Vale MGR, da Silva Pires Á, Franco OL, de Alencar SA, Pogue R
J Cell Biochem 2017 Dec;118(12):4762-4771. Epub 2017 Jun 9 doi: 10.1002/jcb.26144. PMID: 28523647
Petkovic V, Miletta MC, Boot AM, Losekoot M, Flück CE, Pandey AV, Eblé A, Wit JM, Mullis PE
Eur J Endocrinol 2013 Mar;168(3):K35-43. Epub 2013 Feb 15 doi: 10.1530/EJE-12-0847. PMID: 23417163
Fang P, Riedl S, Amselem S, Pratt KL, Little BM, Haeusler G, Hwa V, Frisch H, Rosenfeld RG
J Clin Endocrinol Metab 2007 Jun;92(6):2223-31. Epub 2007 Apr 3 doi: 10.1210/jc.2006-2624. PMID: 17405847
Rakover Y, Silbergeld A, Lavi I, Masalha R, Shlomo IB
Eur J Endocrinol 2002 Mar;146(3):319-23. doi: 10.1530/eje.0.1460319. PMID: 11888837
Rosenbloom AL, Guevara-Aguirre J, Berg MA, Francke U
J Clin Endocrinol Metab 1998 Jul;83(7):2373-5. doi: 10.1210/jcem.83.7.4972. PMID: 9661611

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