Isolated Growth Hormone Deficiency

Overview

Journal Pituitary

Specialty Endocrinology

Date 2007 Oct 30

PMID 17965963

Citations 19

Authors

Libia M Hernandez

Phillip D K Lee

Cecilia Camacho-Hubner

Affiliations

Soon will be listed here.

Abstract

Isolated growth hormone deficiency (IGHD) represents conditions of GH deficiency that are not necessarily associated with other pituitary hormone deficiencies or with an organic lesion. Three sub-categories of IGHD have been clinically identified (IGHD types 1-3), and IGHD type 1 has been further separated into IGHD types 1a and b. However, this clinical sub-categorization of IGHD may need reconsideration due to the recent identification of molecular heterogeneity within each sub-type of IGHD. In a small number of children with IGHD, defects in the GH, GH-releasing hormone receptor (GHRH-R), and GH1 genes have been identified. In most cases, no cause for IGHD can be identified; however, the proportion of idiopathic IGHD cases may be decreasing due to identification of causative factors. The phenotype of IGHD is variable depending in part on the underlying genetic disorders in the affected individuals. Several studies have focused on the usefulness of MRI findings in patients with GHD but anatomic abnormalities of the pituitary gland are variable. We review current studies and the clinical, biochemical, and molecular features described for different groups of affected individuals with IGHD.

Citing Articles

Isolated Growth Hormone Deficiency IA due to a Novel Homozygous Large Deletion ∼1.6 kb Spanning Exons 1-4 of GH1 Gene: A Case Report.

Noorian S, Soltani H, Aghamahdi F, Savad S, Alan M Clin Case Rep. 2025; 13(2):e70234.

PMID: 39980897 PMC: 11839734. DOI: 10.1002/ccr3.70234.

Genetic variations, clinical presentation and treatment outcome of isolated growth hormone deficiency type I and II: case series and review of the literature.

Li R, Yang Y, Bao X, Chen M, Yang H, Gong F Endocrine. 2024; 87(3):1171-1181.

PMID: 39562420 DOI: 10.1007/s12020-024-04102-w.

Effects of Growth Hormone on Adult Human Gonads: Action on Reproduction and Sexual Function.

Zhou X, Ma J, Shen Y, Xie X, Ren W Int J Endocrinol. 2023; 2023:7492696.

PMID: 37064267 PMC: 10104746. DOI: 10.1155/2023/7492696.

Isolated anterior pituitary dysfunction in adulthood.

Prencipe N, Marinelli L, Varaldo E, Cuboni D, Berton A, Bioletto F Front Endocrinol (Lausanne). 2023; 14:1100007.

PMID: 36967769 PMC: 10032221. DOI: 10.3389/fendo.2023.1100007.

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.

Ahmad S, Ali M, Abbasi S, Abbas S, Ahmed I, Abbas S Front Endocrinol (Lausanne). 2023; 14:1066182.

PMID: 36960394 PMC: 10029353. DOI: 10.3389/fendo.2023.1066182.

References

. Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. GH Research Society. J Clin Endocrinol Metab. 2000; 85(11):3990-3. DOI: 10.1210/jcem.85.11.6984. View

Cacciari E, Zucchini S, Carla G, Pirazzoli P, Cicognani A, Mandini M . Endocrine function and morphological findings in patients with disorders of the hypothalamo-pituitary area: a study with magnetic resonance. Arch Dis Child. 1990; 65(11):1199-202. PMC: 1792591. DOI: 10.1136/adc.65.11.1199. View

Salvatori R, Hayashida C, Aguiar-Oliveira M, Phillips 3rd J, Souza A, Gondo R . Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene. J Clin Endocrinol Metab. 1999; 84(3):917-23. DOI: 10.1210/jcem.84.3.5599. View

Aguiar-Oliveira M, Gill M, de A Barretto E, Alcantara M, Miraki-Moud F, Menezes C . Effect of severe growth hormone (GH) deficiency due to a mutation in the GH-releasing hormone receptor on insulin-like growth factors (IGFs), IGF-binding proteins, and ternary complex formation throughout life. J Clin Endocrinol Metab. 1999; 84(11):4118-26. DOI: 10.1210/jcem.84.11.6133. View

Fintini D, Salvatori R, Salemi S, Otten B, Ubertini G, Cambiaso P . Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene. Horm Res. 2006; 65(2):76-82. DOI: 10.1159/000091033. View

Bozzola M, Adamsbaum C, Biscaldi I, Zecca M, Cisternino M, Genovese E . Role of magnetic resonance imaging in the diagnosis and prognosis of growth hormone deficiency. Clin Endocrinol (Oxf). 1996; 45(1):21-6. View

Kornreich L, Horev G, Lazar L, Josefsberg Z, Pertzelan A . MR findings in hereditary isolated growth hormone deficiency. AJNR Am J Neuroradiol. 1997; 18(9):1743-7. PMC: 8338442. View

Wajnrajch M, Gertner J, Harbison M, Chua Jr S, Leibel R . Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet. 1996; 12(1):88-90. DOI: 10.1038/ng0196-88. View

Netchine I, Talon P, Dastot F, Vitaux F, Goossens M, Amselem S . Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. J Clin Endocrinol Metab. 1998; 83(2):432-6. DOI: 10.1210/jcem.83.2.4528. View

10.

Maghnie M, Triulzi F, Larizza D, Scotti G, Beluffi G, Cecchini A . Hypothalamic-pituitary dwarfism: comparison between MR imaging and CT findings. Pediatr Radiol. 1990; 20(4):229-35. DOI: 10.1007/BF02019654. View

11.

SIZONENKO P, Clayton P, Cohen P, Hintz R, Tanaka T, Laron Z . Diagnosis and management of growth hormone deficiency in childhood and adolescence. Part 1: diagnosis of growth hormone deficiency. Growth Horm IGF Res. 2001; 11(3):137-65. DOI: 10.1054/ghir.2001.0203. View

12.

Kamijo T, Phillips 3rd J . Detection of molecular heterogeneity in GH-1 gene deletions by analysis of polymerase chain reaction amplification products. J Clin Endocrinol Metab. 1992; 74(4):786-9. DOI: 10.1210/jcem.74.4.1548341. View

13.

Hamilton J, Blaser S, Daneman D . MR imaging in idiopathic growth hormone deficiency. AJNR Am J Neuroradiol. 1998; 19(9):1609-15. PMC: 8337473. View

14.

Takahashi Y, Chihara K . Short stature by mutant growth hormones. Growth Horm IGF Res. 1999; 9 Suppl B:37-40; discussion 40-1. DOI: 10.1016/s1096-6374(99)80079-3. View

15.

Deladoey J, Stocker P, Mullis P . Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion. J Clin Endocrinol Metab. 2001; 86(8):3941-7. DOI: 10.1210/jcem.86.8.7723. View

16.

Phillips 3rd J, Cogan J . Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. J Clin Endocrinol Metab. 1994; 78(1):11-6. DOI: 10.1210/jcem.78.1.8288694. View

17.

Salvatori R, Fan X, Phillips 3rd J, Martin de Lara I, Freeman K, Plotnick L . Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib. J Clin Endocrinol Metab. 2001; 86(1):273-9. DOI: 10.1210/jcem.86.1.7156. View

18.

Wagner J, Eble A, Hindmarsh P, Mullis P . Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency. Pediatr Res. 1998; 43(1):105-10. DOI: 10.1203/00006450-199801000-00016. View

19.

Desai M, Upadhye P, Kamijo T, Yamamoto M, Ogawa M, Hayashi Y . Growth hormone releasing hormone receptor (GHRH-r) gene mutation in Indian children with familial isolated growth hormone deficiency: a study from western India. J Pediatr Endocrinol Metab. 2005; 18(10):955-73. DOI: 10.1515/jpem.2005.18.10.955. View

20.

Lindsay R, Feldkamp M, Harris D, Robertson J, Rallison M . Utah Growth Study: growth standards and the prevalence of growth hormone deficiency. J Pediatr. 1994; 125(1):29-35. DOI: 10.1016/s0022-3476(94)70117-2. View