Primary Growth Hormone Insensitivity and Psychomotor Delay

Overview

Journal Clin Case Rep

Date 2018 Feb 16

PMID 29445490

Citations 1

Authors

Inma Castilla-Cortazar

Julieta Rodriguez De Ita

Gabriel A Aguirre

Joel Rodriguez-Rivera

Mariano Garcia-Magarino

Irene Martin-Estal

Oscar Flores-Caloca

Carlos Diaz-Olachea

Affiliations

Soon will be listed here.

Abstract

We report a case of short stature irresponsive to growth hormone (GH) replacement therapy. Low GH response to provocative tests and undetectable IGF-1 levels had suggested GH deficiency, while response to therapy indicated GH insensitivity. Molecular evaluation of the GH/IGF-1 axis should be performed in these cases to improve diagnosis and therapy.

Citing Articles

Primary growth hormone insensitivity and psychomotor delay.

Castilla-Cortazar I, Rodriguez De Ita J, Aguirre G, Rodriguez-Rivera J, Garcia-Magarino M, Martin-Estal I Clin Case Rep. 2018; 6(2):426-431.

PMID: 29445490 PMC: 5799629. DOI: 10.1002/ccr3.1349.

References

Castilla-Cortazar I, Rodriguez De Ita J, Aguirre G, Rodriguez-Rivera J, Garcia-Magarino M, Martin-Estal I . Primary growth hormone insensitivity and psychomotor delay. Clin Case Rep. 2018; 6(2):426-431. PMC: 5799629. DOI: 10.1002/ccr3.1349. View

Laron Z, Pertzelan A, Mannheimer S . Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism?. Isr J Med Sci. 1966; 2(2):152-5. View

Fintini D, Brufani C, Cappa M . Profile of mecasermin for the long-term treatment of growth failure in children and adolescents with severe primary IGF-1 deficiency. Ther Clin Risk Manag. 2009; 5(3):553-9. PMC: 2724186. DOI: 10.2147/tcrm.s6178. View

Bouwmeester T, Bauch A, Ruffner H, Angrand P, Bergamini G, Croughton K . A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway. Nat Cell Biol. 2004; 6(2):97-105. DOI: 10.1038/ncb1086. View

Laron Z, Avitzur Y, Klinger B . Carbohydrate metabolism in primary growth hormone resistance (Laron syndrome) before and during insulin-like growth factor-I treatment. Metabolism. 1995; 44(10 Suppl 4):113-8. DOI: 10.1016/0026-0495(95)90231-7. View

Werner H, LeRoith D . Insulin and insulin-like growth factor receptors in the brain: physiological and pathological aspects. Eur Neuropsychopharmacol. 2014; 24(12):1947-53. DOI: 10.1016/j.euroneuro.2014.01.020. View

Aguirre G, De Ita J, de la Garza R, Castilla-Cortazar I . Insulin-like growth factor-1 deficiency and metabolic syndrome. J Transl Med. 2016; 14:3. PMC: 4702316. DOI: 10.1186/s12967-015-0762-z. View

Laron Z, Kauli R . Fifty seven years of follow-up of the Israeli cohort of Laron Syndrome patients-From discovery to treatment. Growth Horm IGF Res. 2015; 28:53-6. DOI: 10.1016/j.ghir.2015.08.004. View

Savage M, Burren C, Blair J, Woods K, Metherell L, Clark A . Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives. Horm Res. 2001; 55 Suppl 2:32-5. DOI: 10.1159/000063471. View

10.

Hanson D, Stevens A, Murray P, Black G, Clayton P . Identifying biological pathways that underlie primordial short stature using network analysis. J Mol Endocrinol. 2014; 52(3):333-44. PMC: 4045235. DOI: 10.1530/JME-14-0029. View

11.

Ma J, Jiang Q, Xu J, Sun Q, Qiao Y, Chen W . Plasma insulin-like growth factor 1 is associated with cognitive impairment in Parkinson's disease. Dement Geriatr Cogn Disord. 2015; 39(5-6):251-6. DOI: 10.1159/000371510. View

12.

Puche J, Munoz U, Garcia-Magarino M, Sadaba M, Castilla-Cortazar I . Partial IGF-1 deficiency induces brain oxidative damage and edema, which are ameliorated by replacement therapy. Biofactors. 2016; 42(1):60-79. DOI: 10.1002/biof.1255. View

13.

De Rocca Serra-Nedelec A, Edouard T, Treguer K, Tajan M, Araki T, Dance M . Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature. Proc Natl Acad Sci U S A. 2012; 109(11):4257-62. PMC: 3306697. DOI: 10.1073/pnas.1119803109. View

14.

Savage M, Attie K, David A, Metherell L, Clark A, Camacho-Hubner C . Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders. Nat Clin Pract Endocrinol Metab. 2006; 2(7):395-407. DOI: 10.1038/ncpendmet0195. View

15.

Kemp S . Insulin-like growth factor-I deficiency in children with growth hormone insensitivity: current and future treatment options. BioDrugs. 2009; 23(3):155-63. DOI: 10.2165/00063030-200923030-00002. View

16.

Rosenbloom A . A half-century of studies of growth hormone insensitivity/Laron syndrome: A historical perspective. Growth Horm IGF Res. 2015; 28:46-50. DOI: 10.1016/j.ghir.2015.08.001. View

17.

Storr H, Dunkel L, Kowalczyk J, Savage M, Metherell L . Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation. Eur J Endocrinol. 2014; 172(2):151-61. DOI: 10.1530/EJE-14-0541. View

18.

Wit J, De Luca F . Atypical defects resulting in growth hormone insensitivity. Growth Horm IGF Res. 2015; 28:57-61. DOI: 10.1016/j.ghir.2015.11.005. View

19.

Godowski P, Leung D, Meacham L, Galgani J, Hellmiss R, KERET R . Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc Natl Acad Sci U S A. 1989; 86(20):8083-7. PMC: 298219. DOI: 10.1073/pnas.86.20.8083. View

20.

Kopchick J . Lessons learned from studies with the growth hormone receptor. Growth Horm IGF Res. 2015; 28:21-5. DOI: 10.1016/j.ghir.2015.06.003. View