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Summary
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II (IGHD2)
IGHD II
173100
OMIM = Online Medalian Inheritance of Men
231679
17q23.3
rare
autosomal dominant
mutations in the gene for growth hormone (GH1)
symptoms
dwarfism
laboratory finding
growth hormone
Literature
Falhammar H,Wedell A, Nordenstroem ABiochemical and genetic diagnosis of 21-hydroxylase deficiencyEndocrine502306-3142015
Odenwald B,et al.Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: Evaluation of adrenal crises during the first six years of lifeEur J Endocrinol1742177-1862015
Kamrath C,et al.Diagnosis of 21-hydroxylase deficiency by urinary metabolite ratios using gas chromatography-mass spectrometry analysis: Reference values for neonates and infantsJ Steroid Biochem Mol Biol156010-162015