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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]

Professional guidelines

PubMed

Investigational agents for the treatment of growth hormone-insensitivity syndrome.
Kemp SF, Thrailkill KM
Expert Opin Investig Drugs 2006 Apr;15(4):409-15. doi: 10.1517/13543784.15.4.409. PMID: 16548790
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

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
Bone density and body composition in children with growth hormone insensitivity syndrome receiving recombinant IGF-I.
Shaw NJ, Fraser NC, Rose S, Crabtree NJ, Boivin CM
Clin Endocrinol (Oxf) 2003 Oct;59(4):487-91. doi: 10.1046/j.1365-2265.2003.01875.x. PMID: 14510912
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

Diagnosis

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

Therapy

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.
Kemp SF
Drugs Today (Barc) 2007 Mar;43(3):149-55. doi: 10.1358/dot.2007.43.3.1079876. PMID: 17380212
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
SomatoKine. Insmed.
Norman P
Curr Opin Investig Drugs 2003 Apr;4(4):466-71. PMID: 12808889
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

Prognosis

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
A novel exonic GHR splicing mutation (c.784G > C) in a patient with classical growth hormone insensitivity syndrome.
Akıncı A, Rosenfeld RG, Hwa V
Horm Res Paediatr 2013;79(1):32-8. Epub 2012 Sep 20 doi: 10.1159/000341527. PMID: 23006617
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
Long-term treatment of growth hormone insensitivity syndrome with IGF-I. Results of the European Multicentre Study. The Working Group on Growth Hormone Insensitivity Syndromes.
Ranke MB, Savage MO, Chatelain PG, Preece MA, Rosenfeld RG, Wilton P
Horm Res 1999;51(3):128-34. doi: 10.1159/000023345. PMID: 10461018

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
Further observations on the effects of long-term treatment with recombinant human insulin-like growth factor 1 in growth hormone insensitivity syndrome.
El Kholy M, Amr NH, Elsedfy H
Horm Res Paediatr 2014;81(4):258-65. Epub 2014 Mar 12 doi: 10.1159/000357267. PMID: 24642532
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

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