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Growth hormone insensitivity syndrome

MedGen UID:: 1384226
•Concept ID:: C4318479
•: Disease or Syndrome

Synonyms:	GHIS; Growth Hormone Insensitivity Syndrome; growth hormone insensitivity syndrome; Growth Hormone Insensitivity Syndromes; Growth hormone insensitivity syndromes; Short stature due to a defect in growth hormone receptor or post-receptor pathway; short stature due to a defect in growth hormone receptor or post-receptor pathway

Monarch Initiative:	MONDO:0015892
Orphanet:	ORPHA181393

Definition

Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms). [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Growth hormone insensitivity syndrome

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Syndromic disease
      - Growth hormone insensitivity syndrome
        Growth delay due to insulin-like growth factor I resistance
        Growth delay due to insulin-like growth factor type 1 deficiency
        Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
        Laron-type isolated somatotropin defect
        Short stature due to partial GHR deficiency
        Short stature due to primary acid-labile subunit deficiency
        STAT5B Deficiency

Professional guidelines

PubMed

Insulin-like growth factor-I treatment of growth disorders, diabetes mellitus and insulin resistance.

Ranke MB
Trends Endocrinol Metab 2005 May-Jun;16(4):190-7. doi: 10.1016/j.tem.2005.03.011. PMID: 15860416

Relationship between phenotype and genotype in growth hormone insensitivity syndrome.

Woods KA, Clark AJ, Amselem S, Savage MO
Acta Paediatr Suppl 1999 Feb;88(428):158-62; discussion 163. doi: 10.1111/j.1651-2227.1999.tb14376.x. PMID: 10102073

Growth hormone insensitivity syndrome (Laron syndrome): main characteristics and effects of IGF1 treatment.

Carel JC, Chaussain JL, Chatelain P, Savage MO
Diabetes Metab 1996 Jul;22(4):251-6. PMID: 8767171

See all (12)

Recent clinical studies

Etiology

A novel treatment for height growth in patients with growth hormone insensitivity syndrome by cyproheptadine hydrochloride.

Razzaghy-Azar M, Nourbakhsh M, Nourbakhsh M
Clin Endocrinol (Oxf) 2018 Jun;88(6):880-888. Epub 2018 Apr 14 doi: 10.1111/cen.13594. PMID: 29520979

Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay.

Gorbenko del Blanco D, de Graaff LC, Visser TJ, Hokken-Koelega AC
Clin Endocrinol (Oxf) 2012 May;76(5):706-12. doi: 10.1111/j.1365-2265.2011.04304.x. PMID: 22117696

Therapeutic applications of the insulin-like growth factors.

Savage MO, Camacho-Hübner C, Dunger DB
Growth Horm IGF Res 2004 Aug;14(4):301-8. doi: 10.1016/j.ghir.2004.04.001. PMID: 15231299

Clinical and endocrine characteristics in atypical and classical growth hormone insensitivity syndrome.

Burren CP, Woods KA, Rose SJ, Tauber M, Price DA, Heinrich U, Gilli G, Razzaghy-Azar M, Al-Ashwal A, Crock PA, Rochiccioli P, Yordam N, Ranke MB, Chatelain PG, Preece MA, Rosenfeld RG, Savage MO
Horm Res 2001;55(3):125-30. doi: 10.1159/000049983. PMID: 11549873

Improvement of diagnostic criteria in growth hormone insensitivity syndrome: solutions and pitfalls. Pharmacia Study Group on Insulin-like Growth Factor I Treatment in Growth Hormone Insensitivity Syndromes.

Blum WF, Cotterill AM, Postel-Vinay MC, Ranke MB, Savage MO, Wilton P
Acta Paediatr Suppl 1994 Apr;399:117-24. doi: 10.1111/j.1651-2227.1994.tb13303.x. PMID: 7949595

See all (13)

Diagnosis

Laron Syndrome: A Tale of Two Siblings.

Das N, Tarenia SS, Saha S, Gaikwad PM, Hathi DK, Goswami S, Baidya A, Sengupta N
J ASEAN Fed Endocr Soc 2023;38(2):124-127. Epub 2023 Sep 18 doi: 10.15605/jafes.038.02.22. PMID: 38045665 Free PMC Article

Growth hormone insensitivity syndrome: unusual oral manifestations.

Borges AH, Siqueira CR, Pedro FL, Palma VC, Sakai VT, Volpato LE
J Dent Child (Chic) 2013 Sep-Dec;80(3):150-3. PMID: 24351697

Growth hormone insensitivity syndrome associated with syringomyelia and type I Chiari malformation.

Takagi J, Otake K, Takahashi M, Nakao N, Hirooka Y, Sahashi K, Nogimori T
Intern Med 2003 Nov;42(11):1117-21. doi: 10.2169/internalmedicine.42.1117. PMID: 14686753

SomatoKine. Insmed.

Norman P
Curr Opin Investig Drugs 2003 Apr;4(4):466-71. PMID: 12808889

Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.

Gastier JM, Berg MA, Vesterhus P, Reiter EO, Francke U
Hum Mutat 2000 Oct;16(4):323-33. doi: 10.1002/1098-1004(200010)16:4<323::AID-HUMU5>3.0.CO;2-D. PMID: 11013443

See all (17)

Therapy

Laron Syndrome: A Tale of Two Siblings.

Recombinant IGF-I: Past, present and future.

Bright GM
Growth Horm IGF Res 2016 Jun;28:62-5. Epub 2016 Jan 18 doi: 10.1016/j.ghir.2016.01.002. PMID: 26822565

Mecasermin rinfabate: rhIGF-I/rhIGFBP-3 complex: iPLEX.

Williams RM, McDonald A, O'Savage M, Dunger DB
Expert Opin Drug Metab Toxicol 2008 Mar;4(3):311-24. doi: 10.1517/17425255.4.3.311. PMID: 18363546

Mecasermin rinfabate.

Kemp SF
Drugs Today (Barc) 2007 Mar;43(3):149-55. doi: 10.1358/dot.2007.43.3.1079876. PMID: 17380212

Growth hormone insensitivity syndrome (Laron syndrome): main characteristics and effects of IGF1 treatment.

Carel JC, Chaussain JL, Chatelain P, Savage MO
Diabetes Metab 1996 Jul;22(4):251-6. PMID: 8767171

See all (37)

Prognosis

A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature.

Giannakopoulos A, Papanastasiou AD, Zarkadis IK, Andrew SF, Rosenfeld RG, Efthymiadou A, Chrysis D, Hwa V
Horm Res Paediatr 2024;97(4):397-403. Epub 2023 Sep 19 doi: 10.1159/000534183. PMID: 37725936

Recombinant IGF-I: Past, present and future.

Bright GM
Growth Horm IGF Res 2016 Jun;28:62-5. Epub 2016 Jan 18 doi: 10.1016/j.ghir.2016.01.002. PMID: 26822565

Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay.

Gorbenko del Blanco D, de Graaff LC, Visser TJ, Hokken-Koelega AC
Clin Endocrinol (Oxf) 2012 May;76(5):706-12. doi: 10.1111/j.1365-2265.2011.04304.x. PMID: 22117696

Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.

Gastier JM, Berg MA, Vesterhus P, Reiter EO, Francke U
Hum Mutat 2000 Oct;16(4):323-33. doi: 10.1002/1098-1004(200010)16:4<323::AID-HUMU5>3.0.CO;2-D. PMID: 11013443

Effects of insulin-like growth factor I treatment on statural growth, body composition and phenotype of children with growth hormone insensitivity syndrome. GHIS Collaborative Group.

Underwood LE, Backeljauw P, Duncan V
Acta Paediatr Suppl 1999 Feb;88(428):182-4. doi: 10.1111/j.1651-2227.1999.tb14386.x. PMID: 10102077

See all (9)

Clinical prediction guides

A novel treatment for height growth in patients with growth hormone insensitivity syndrome by cyproheptadine hydrochloride.

Razzaghy-Azar M, Nourbakhsh M, Nourbakhsh M
Clin Endocrinol (Oxf) 2018 Jun;88(6):880-888. Epub 2018 Apr 14 doi: 10.1111/cen.13594. PMID: 29520979

Recombinant IGF-I: Past, present and future.

Bright GM
Growth Horm IGF Res 2016 Jun;28:62-5. Epub 2016 Jan 18 doi: 10.1016/j.ghir.2016.01.002. PMID: 26822565

Growth hormone insensitivity syndrome: unusual oral manifestations.

Borges AH, Siqueira CR, Pedro FL, Palma VC, Sakai VT, Volpato LE
J Dent Child (Chic) 2013 Sep-Dec;80(3):150-3. PMID: 24351697

Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.

Gastier JM, Berg MA, Vesterhus P, Reiter EO, Francke U
Hum Mutat 2000 Oct;16(4):323-33. doi: 10.1002/1098-1004(200010)16:4<323::AID-HUMU5>3.0.CO;2-D. PMID: 11013443

Phenotype: genotype relationships in growth hormone insensitivity syndrome.

Woods KA, Dastot F, Preece MA, Clark AJ, Postel-Vinay MC, Chatelain PG, Ranke MB, Rosenfeld RG, Amselem S, Savage MO
J Clin Endocrinol Metab 1997 Nov;82(11):3529-35. doi: 10.1210/jcem.82.11.4389. PMID: 9360502

See all (20)

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Growth hormone insensitivity syndrome

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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