Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Isolated growth hormone deficiency type 1B

Isolated growth hormone deficiency type 1B is an autosomal recessive disorder caused by mutations of the genes that encode growth hormone or its receptor. The symptoms are less prominent compared with type 1A.

Systematic

Growth hormone deficiency
GH1
Growth hormone secretagogue resistance
Isolated growth hormone deficiency type 1A
Isolated growth hormone deficiency type 1B
GH1
GHRH
GHRHR
Isolated growth hormone deficiency type 2
Isolated growth hormone deficiency type 3
Kowarski syndrome

References:

1.

Salvatori R et al. (1999) Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.

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2.

Aguiar-Oliveira MH et al. (1999) 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.

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3.

Gondo RG et al. (2001) Growth hormone-releasing peptide-2 stimulates GH secretion in GH-deficient patients with mutated GH-releasing hormone receptor.

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4.

Menezes Oliveira JL et al. (2006) Lack of evidence of premature atherosclerosis in untreated severe isolated growth hormone (GH) deficiency due to a GH-releasing hormone receptor mutation.

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5.

Wajnrajch MP et al. (1996) Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.

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6.

Leiberman E et al. (2000) Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency.

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7.

Walenkamp MJ et al. (2008) Height gain with combined growth hormone and gonadotropin-releasing hormone analog therapy in two pubertal siblings with a growth hormone-releasing hormone receptor mutation.

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Update: Sept. 26, 2018