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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.
 
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).
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Small pituitary gland
MedGen UID:
868479
Concept ID:
C4022873
Anatomical Abnormality
An abnormally decreased size of the pituitary gland.
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.
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.

Term Hierarchy

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

Recent clinical studies

Etiology

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
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
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
Root AW, Root MJ
Curr Drug Targets Immune Endocr Metabol Disord 2002 Apr;2(1):27-52. PMID: 12477295
Thorner MO, Chapman IM, Gaylinn BD, Pezzoli SS, Hartman ML
Recent Prog Horm Res 1997;52:215-44; discussion 244-6. PMID: 9238854

Diagnosis

Bright GM, Thorner MO
Horm Res Paediatr 2022;95(1):76-81. Epub 2022 Mar 30 doi: 10.1159/000524244. PMID: 35354138Free PMC Article
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
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
Wit JM, Oostdijk W, Losekoot M
Endocr Dev 2012;23:30-41. Epub 2012 Nov 23 doi: 10.1159/000341739. PMID: 23182818
Root AW, Root MJ
Curr Drug Targets Immune Endocr Metabol Disord 2002 Apr;2(1):27-52. PMID: 12477295

Therapy

Bright GM, Thorner MO
Horm Res Paediatr 2022;95(1):76-81. Epub 2022 Mar 30 doi: 10.1159/000524244. PMID: 35354138Free PMC Article
Wit JM, Oostdijk W, Losekoot M
Endocr Dev 2012;23:30-41. Epub 2012 Nov 23 doi: 10.1159/000341739. PMID: 23182818
Mullis PE
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):25-41. doi: 10.1016/j.beem.2010.06.006. PMID: 21396573
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
Root AW, Root MJ
Curr Drug Targets Immune Endocr Metabol Disord 2002 Apr;2(1):27-52. PMID: 12477295

Prognosis

Mullis PE
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):25-41. doi: 10.1016/j.beem.2010.06.006. PMID: 21396573
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

Bright GM, Thorner MO
Horm Res Paediatr 2022;95(1):76-81. Epub 2022 Mar 30 doi: 10.1159/000524244. PMID: 35354138Free PMC Article
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
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
Mullis PE
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):25-41. doi: 10.1016/j.beem.2010.06.006. PMID: 21396573
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

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