Abstract
Among children with significant short stature (height of ≤ −2.5 standard deviations (SD)), 16–20 % have growth hormone deficiency (GHD), which may be isolated (IGHD) or combined (CGHD) with deficiency of other pituitary hormones (Desai et al. 1991). Congenital IGHD occurs in 1 in 4,000 to 1 in 10,000 live births, with prevalence of 1 in 3,500 in school-age population (Lindsay et al. 1994). It is often sporadic and nonfamilial (NFIGHD) but may be familial (FIGHD) in 3–30 % (Mullis 2007; Rimoin and Phillips 1997).
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Chen, H. (2015). Isolated Growth Hormone Deficiency in Children. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_274-1
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DOI: https://doi.org/10.1007/978-1-4614-6430-3_274-1
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