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Short stature due to growth hormone qualitative anomaly

MedGen UID:
340412
•Concept ID:
C1849779
•
Disease or Syndrome
Synonyms: Biodefective growth hormone; Kowarski syndrome; Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
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 recessive inheritance (Orphanet)
 
Gene (location): GH1 (17q23.3)
 
Monarch Initiative: MONDO:0009879
OMIM®: 262650
Orphanet: ORPHA629

Definition

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). [from OMIM]

Clinical features

From HPO
Pituitary dwarfism
MedGen UID:
8506
•Concept ID:
C0013338
•
Disease or Syndrome
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.
See: Feature record | Search on this feature
Growth delay
MedGen UID:
99124
•Concept ID:
C0456070
•
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
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
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
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 qualitative anomaly
Follow this link to review classifications for Short stature due to growth hormone qualitative anomaly in Orphanet.

Recent clinical studies

Etiology

Evaluating growth failure with diffusion tensor imaging in pediatric survivors of high-risk neuroblastoma treated with high-dose cis-retinoic acid.
Delgado J, Jaramillo D, Chauvin NA, Guo M, Stratton MS, Sweeney HE, Barrera CA, Mostoufi-Moab S
Pediatr Radiol 2019 Jul;49(8):1056-1065. Epub 2019 May 4 doi: 10.1007/s00247-019-04409-1. PMID: 31055614Free PMC Article
Abnormalities of the axial and proximal appendicular skeleton in adults with Laron syndrome (growth hormone insensitivity).
Kornreich L, Konen O, Schwarz M, Siegel Y, Horev G, Hershkovitz I, Laron Z
Skeletal Radiol 2008 Feb;37(2):153-60. Epub 2007 Nov 9 doi: 10.1007/s00256-007-0402-7. PMID: 17992526
Pathophysiology of radiation-induced growth hormone deficiency: efficacy and safety of GH replacement.
Darzy KH, Shalet SM
Growth Horm IGF Res 2006 Jul;16 Suppl A:S30-40. Epub 2006 Apr 18 doi: 10.1016/j.ghir.2006.03.002. PMID: 16624606
Evidence of a congenital midline brain anomaly in pituitary dwarfs: a magnetic resonance imaging study in 101 patients.
Triulzi F, Scotti G, di Natale B, Pellini C, Lukezic M, Scognamiglio M, Chiumello G
Pediatrics 1994 Mar;93(3):409-16. PMID: 8115199

Diagnosis

A first description of the Colombian national registry for rare diseases.
Mateus HE, Pérez AM, Mesa ML, Escobar G, Gálvez JM, Montaño JI, Ospina ML, Laissue P
BMC Res Notes 2017 Oct 26;10(1):514. doi: 10.1186/s13104-017-2840-1. PMID: 29073918Free PMC Article
Abnormalities of the axial and proximal appendicular skeleton in adults with Laron syndrome (growth hormone insensitivity).
Kornreich L, Konen O, Schwarz M, Siegel Y, Horev G, Hershkovitz I, Laron Z
Skeletal Radiol 2008 Feb;37(2):153-60. Epub 2007 Nov 9 doi: 10.1007/s00256-007-0402-7. PMID: 17992526
Pharmacological manipulation of height: qualitative review of study populations and designs.
Taback SP, Guyda HJ, Van Vliet G
Clin Invest Med 1999 Apr;22(2):53-9. PMID: 10340104

Therapy

Evaluating growth failure with diffusion tensor imaging in pediatric survivors of high-risk neuroblastoma treated with high-dose cis-retinoic acid.
Delgado J, Jaramillo D, Chauvin NA, Guo M, Stratton MS, Sweeney HE, Barrera CA, Mostoufi-Moab S
Pediatr Radiol 2019 Jul;49(8):1056-1065. Epub 2019 May 4 doi: 10.1007/s00247-019-04409-1. PMID: 31055614Free PMC Article
Pathophysiology of radiation-induced growth hormone deficiency: efficacy and safety of GH replacement.
Darzy KH, Shalet SM
Growth Horm IGF Res 2006 Jul;16 Suppl A:S30-40. Epub 2006 Apr 18 doi: 10.1016/j.ghir.2006.03.002. PMID: 16624606
Pharmacological manipulation of height: qualitative review of study populations and designs.
Taback SP, Guyda HJ, Van Vliet G
Clin Invest Med 1999 Apr;22(2):53-9. PMID: 10340104

Clinical prediction guides

Evaluating growth failure with diffusion tensor imaging in pediatric survivors of high-risk neuroblastoma treated with high-dose cis-retinoic acid.
Delgado J, Jaramillo D, Chauvin NA, Guo M, Stratton MS, Sweeney HE, Barrera CA, Mostoufi-Moab S
Pediatr Radiol 2019 Jul;49(8):1056-1065. Epub 2019 May 4 doi: 10.1007/s00247-019-04409-1. PMID: 31055614Free PMC Article
A first description of the Colombian national registry for rare diseases.
Mateus HE, Pérez AM, Mesa ML, Escobar G, Gálvez JM, Montaño JI, Ospina ML, Laissue P
BMC Res Notes 2017 Oct 26;10(1):514. doi: 10.1186/s13104-017-2840-1. PMID: 29073918Free PMC Article

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
    • MeSH
      Related Medical Subject Headings
    • 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
    • PubMed (OMIM)
      Related literature resources in PubMed

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