By Renata Lorini, Mohamad Maghnie, Giuseppe D'Annunzio, Sandro Loche, Martin O. Savage
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Stefano Cianfarani, MD Rina Balducci Center of Pediatric Endocrinology Department of Public Health and Cell Biology, Room E-178, Tor Vergata University, Via Montpellier 1 IT–00133 Rome (Italy) Tel. it IGF Signaling and Growth Retardation 27 Lorini R, Maghnie M, D’Annunzio G, Loche S, Savage MO (eds): Congenital Endocrinopathies. New Insights into Endocrine Diseases and Diabetes. Endocr Dev. Basel, Karger, 2007, vol 11, pp 28–35 Growth Hormone Receptor Polymorphisms Controversies and Outcome of Growth Hormone Treatment Fabio Buzia, Patrizia Mellab, Alba Pilottaa, Elena Prandia, Fabiana Lanfranchia, Teresa Carapellaa a Centro di Auxoendocrinologia, Department of Paediatrics, and bIstituto di Medicina Molecolare A.
FEBS Lett 1993;319:16–20. Urbanek M, Russell JE, Cooke NE, Liebhaber SA: Functional characterization of the alternatively spliced, placental human growth hormone receptor. J Biol Chem 1993;268:19025–19032. Bass SH, Mulkerrin MG, Wells JA: A systematic mutational analysis of hormone-binding determinants in the human growth hormone receptor. Proc Natl Acad Sci USA 1991;88:4498–4502. Pantel J, Grulich-Henn J, Bettendorf M, Strasburger CJ, Heinrich U, Amselem S: Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform.
The amino-terminus of DAX1 contains an atypical repeat motif structure with multiple LXXLL domains involved in nuclear receptor/co-factor interaction. DAX1 is expressed in the developing adrenal gland, gonad and gonadotropes, consistent with its role in the development of these tissues. The clinical syndrome associated with DAX1 mutations includes (1) primary adrenal insufficiency; (2) hypogonadotropic hypogonadism, and (3) a likely primary defect in spermatogenesis. Boys tend to present with salt-losing adrenal failure in the first 2 months of life (60–70%) or more insidiously with adrenal failure throughout childhood (30–40%) [12, 15].
Congenital Endocrinopathies by Renata Lorini, Mohamad Maghnie, Giuseppe D'Annunzio, Sandro Loche, Martin O. Savage