Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Isolated growth hormone deficiency type 2

Isolated growth hormone deficiency type 2 is an autosomal dominant disorder caused by mutations of the GH1 gene. Clinically this disorder is characterized by growth retardation and delayed bone maturation. The disease can be managed by supplementation of growth hormone.

Systematic

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

References:

1.

Mullis PE et al. (2005) Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.

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2.

Shariat N et al. (2008) Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.

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3.

Phillips JA et al. (1994) Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency.

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4.

Rimoin DL et al. (1966) Growth-hormone deficiency in man: an isolated, recessively inherited defect.

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5.

Rona RJ et al. (1977) Aetiology of idiopathic growth hormone deficiency in England and Wales.

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6.

WARKANY J et al. (1961) Intrauterine growth retardation.

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7.

Artman HG et al. (1992) 18p- syndrome and hypopituitarism.

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8.

Tani N et al. (1987) A family case with autosomal-dominantly inherited pituitary dwarfism.

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9.

Sadeghi-Nejad A et al. (1974) Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome).

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10.

Poskitt EM et al. (1974) Isolated growth hormone deficiency. Two families with autosomal dominant inheritance.

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11.

Sheikholislam BM et al. (1972) Hereditary isolated somatotropin deficiency: effects of human growth hormone administration.

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12.

Merimee TJ et al. (1972) Studies in high-deficient dwarfs: the type II anomaly.

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13.

Butenandt O et al. (1970) [Familial hypopituitarism].

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14.

van Gelderen HH et al. (1981) Familial isolated growth hormone deficiency.

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15.

Schober E et al. (1995) 18p monosomy with GH-deficiency and empty sella: good response to GH-treatment.

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16.

Hamilton J et al. (1998) Familial growth hormone deficiency associated with MRI abnormalities.

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Update: Sept. 26, 2018