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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
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