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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. See: This record Unknown inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	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).

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

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Abnormality of the endocrine system
- Decreased serum insulin-like growth factor 1
Growth abnormality
- Short stature

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVShort stature due to partial GHR deficiency

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Syndromic disease
      - Growth hormone insensitivity syndrome
        Short stature due to partial GHR deficiency

Professional guidelines

PubMed

Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.

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

See all (1)

Recent clinical studies

Etiology

Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor.

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

Can exaggerated response to a GH provocative test identify patients with partial GH insensitivity syndrome?

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

Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature.

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

Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives.

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

Molecular basis of inherited growth hormone resistance in childhood.

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

See all (5)

Diagnosis

Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.

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

Computational Investigation of Growth Hormone Receptor Trp169Arg Heterozygous Mutation in a Child With Short Stature.

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

IGFs and IGFBPs in GH insensitivity.

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

IGF-I deficiency due to GH receptor deficiency.

Rosenbloom AL
Horm Metab Res 1999 Feb-Mar;31(2-3):161-71. doi: 10.1055/s-2007-978715. PMID: 10226798

See all (8)

Therapy

Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives.

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

See all (1)

Prognosis

Computational Investigation of Growth Hormone Receptor Trp169Arg Heterozygous Mutation in a Child With Short Stature.

See all (1)

Clinical prediction guides

Computational Investigation of Growth Hormone Receptor Trp169Arg Heterozygous Mutation in a Child With Short Stature.

Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH.

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

Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states.

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

Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature.

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

Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives.

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

See all (7)

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

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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