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Short stature due to growth hormone secretagogue receptor deficiency(GHDP)

MedGen UID:
1633096
•Concept ID:
C4707848
•
Disease or Syndrome
Synonyms: GHDP; Short stature due to GHSR deficiency
SNOMED CT: Short stature due to GHSR (growth hormone secretagogue receptor) deficiency (766817004); Short stature due to growth hormone secretagogue receptor deficiency (766817004); Short stature due to GHSR deficiency (766817004); Ghrelin receptor deficiency (766817004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Gene (location): GHSR (3q26.31)
 
Monarch Initiative: MONDO:0014403
OMIM®: 615925
Orphanet: ORPHA314811

Definition

A rare genetic endocrine growth disease resulting from growth hormone secretagogue receptor (GHSR) deficiency. The disease has characteristics of postnatal growth delay that results in short stature. The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. [from SNOMEDCT_US]

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
Postnatal growth retardation
MedGen UID:
395343
•Concept ID:
C1859778
•
Finding
Slow or limited growth after birth.
See: Feature record | Search on this feature
Small pituitary gland
MedGen UID:
868479
•Concept ID:
C4022873
•
Anatomical Abnormality
An abnormally decreased size of the pituitary gland.
See: Feature record | Search on this feature
Delayed skeletal maturation
MedGen UID:
108148
•Concept ID:
C0541764
•
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
See: Feature record | Search on this feature
Decreased response to growth hormone stimulation test
MedGen UID:
1784655
•Concept ID:
C5539399
•
Finding
Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort stature due to growth hormone secretagogue receptor deficiency

Recent clinical studies

Etiology

Clonidine-stimulated growth hormone concentrations (cut-off values) measured by immunochemiluminescent assay (ICMA) in children and adolescents with short stature.
Borges Mde F, Teixeira FC, Feltrin AK, Ribeiro KA, Nascentes GA, Resende EA, Ferreira BP, Silva AP, Palhares HM
Clinics (Sao Paulo) 2016 Apr;71(4):226-31. doi: 10.6061/clinics/2016(04)09. PMID: 27166774Free PMC Article
Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature.
Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K; Japan Growth Genome Consortium
J Clin Endocrinol Metab 2011 Feb;96(2):E373-8. Epub 2010 Nov 17 doi: 10.1210/jc.2010-1570. PMID: 21084395
Acylated ghrelin secretion is acutely suppressed by oral glucose load or insulin-induced hypoglycemia independently of basal growth hormone secretion in humans.
Kim SW, Kim KW, Shin CS, Park DJ, Park KS, Cho BY, Lee HK, Kim SY
Horm Res 2007;67(5):211-9. Epub 2006 Nov 16 doi: 10.1159/000097098. PMID: 17114888
Clinical pharmacology of human growth hormone and its secretagogues.
Root AW, Root MJ
Curr Drug Targets Immune Endocr Metabol Disord 2002 Apr;2(1):27-52. PMID: 12477295
Growth hormone-releasing hormone and growth hormone-releasing peptide as therapeutic agents to enhance growth hormone secretion in disease and aging.
Thorner MO, Chapman IM, Gaylinn BD, Pezzoli SS, Hartman ML
Recent Prog Horm Res 1997;52:215-44; discussion 244-6. PMID: 9238854

Diagnosis

Enteroendocrine Connections in Congenital Isolated GH Deficiency Due to a GHRH Receptor Gene Mutation.
Oliveira-Santos AA, Salvatori R, Nogueira MC, Bueno AC, Barros-Oliveira CS, Leal ÂCGB, Marinho CG, Damascena NP, Oliveira DA, Melo MA, Oliveira CRP, da Costa FO, Dos Santos JSS, Santos PFC, Campos VC, Santos EG, Melo EV, Barbosa MLA, Rocha IES, de Castro M, Aguiar-Oliveira MH
J Clin Endocrinol Metab 2019 Jul 1;104(7):2777-2784. doi: 10.1210/jc.2019-00094. PMID: 30860584
MECHANISMS IN ENDOCRINOLOGY: The multiple facets of GHRH/GH/IGF-I axis: lessons from lifetime, untreated, isolated GH deficiency due to a GHRH receptor gene mutation.
Aguiar-Oliveira MH, Souza AHO, Oliveira CRP, Campos VC, Oliveira-Neto LA, Salvatori R
Eur J Endocrinol 2017 Aug;177(2):R85-R97. Epub 2017 Apr 20 doi: 10.1530/EJE-16-1047. PMID: 28428227
Spectrum of insulin-like growth factor deficiency.
Wit JM, Oostdijk W, Losekoot M
Endocr Dev 2012;23:30-41. Epub 2012 Nov 23 doi: 10.1159/000341739. PMID: 23182818
Clinical pharmacology of human growth hormone and its secretagogues.
Root AW, Root MJ
Curr Drug Targets Immune Endocr Metabol Disord 2002 Apr;2(1):27-52. PMID: 12477295
Growth hormone-releasing hormone and growth hormone-releasing peptide as therapeutic agents to enhance growth hormone secretion in disease and aging.
Thorner MO, Chapman IM, Gaylinn BD, Pezzoli SS, Hartman ML
Recent Prog Horm Res 1997;52:215-44; discussion 244-6. PMID: 9238854

Therapy

A GH Secretagogue Receptor Agonist (LUM-201) Elicits Greater GH Responses than Standard GH Secretagogues in Subjects of a Pediatric GH Deficiency Trial.
Bright GM, Thorner MO
Horm Res Paediatr 2022;95(1):76-81. Epub 2022 Mar 30 doi: 10.1159/000524244. PMID: 35354138Free PMC Article
Spectrum of insulin-like growth factor deficiency.
Wit JM, Oostdijk W, Losekoot M
Endocr Dev 2012;23:30-41. Epub 2012 Nov 23 doi: 10.1159/000341739. PMID: 23182818
Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics.
Mullis PE
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):25-41. doi: 10.1016/j.beem.2010.06.006. PMID: 21396573
GH response to hypoglycemia and clonidine in the GH-releasing hormone resistance syndrome.
Salvatori R, Serpa MG, Parmigiani G, Britto AV, Oliveira JL, Oliveira CR, Prado CM, Farias CT, Almeida JC, Vicente TA, Aguiar-Oliveira MH
J Endocrinol Invest 2006 Oct;29(9):805-8. doi: 10.1007/BF03347374. PMID: 17114911
Clinical pharmacology of human growth hormone and its secretagogues.
Root AW, Root MJ
Curr Drug Targets Immune Endocr Metabol Disord 2002 Apr;2(1):27-52. PMID: 12477295

Prognosis

Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics.
Mullis PE
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):25-41. doi: 10.1016/j.beem.2010.06.006. PMID: 21396573
Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.
Pantel J, Legendre M, Nivot S, Morisset S, Vie-Luton MP, le Bouc Y, Epelbaum J, Amselem S
J Clin Endocrinol Metab 2009 Nov;94(11):4334-41. Epub 2009 Sep 29 doi: 10.1210/jc.2009-1327. PMID: 19789204

Clinical prediction guides

A GH Secretagogue Receptor Agonist (LUM-201) Elicits Greater GH Responses than Standard GH Secretagogues in Subjects of a Pediatric GH Deficiency Trial.
Bright GM, Thorner MO
Horm Res Paediatr 2022;95(1):76-81. Epub 2022 Mar 30 doi: 10.1159/000524244. PMID: 35354138Free PMC Article
Metabolic insights from a GHSR-A203E mutant mouse model.
Torz LJ, Osborne-Lawrence S, Rodriguez J, He Z, Cornejo MP, Mustafá ER, Jin C, Petersen N, Hedegaard MA, Nybo M, Damonte VM, Metzger NP, Mani BK, Williams KW, Raingo J, Perello M, Holst B, Zigman JM
Mol Metab 2020 Sep;39:101004. Epub 2020 Apr 24 doi: 10.1016/j.molmet.2020.101004. PMID: 32339772Free PMC Article
MECHANISMS IN ENDOCRINOLOGY: The multiple facets of GHRH/GH/IGF-I axis: lessons from lifetime, untreated, isolated GH deficiency due to a GHRH receptor gene mutation.
Aguiar-Oliveira MH, Souza AHO, Oliveira CRP, Campos VC, Oliveira-Neto LA, Salvatori R
Eur J Endocrinol 2017 Aug;177(2):R85-R97. Epub 2017 Apr 20 doi: 10.1530/EJE-16-1047. PMID: 28428227
Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics.
Mullis PE
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):25-41. doi: 10.1016/j.beem.2010.06.006. PMID: 21396573
Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.
Pantel J, Legendre M, Nivot S, Morisset S, Vie-Luton MP, le Bouc Y, Epelbaum J, Amselem S
J Clin Endocrinol Metab 2009 Nov;94(11):4334-41. Epub 2009 Sep 29 doi: 10.1210/jc.2009-1327. PMID: 19789204

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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