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Isolated Growth Hormone Deficiency in Children

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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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References

  • Adan, L., Souberbielle, J. C., & Brauner, R. (1994). Diagnostic markers of permanent idiopathic growth hormone deficiency. The Journal of Clinical Endocrinology and Metabolism, 78, 353–358.

    CAS  PubMed  Google Scholar 

  • Alatzoglou, K. S., & Dattani, M. T. (2012). Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). Indian Journal of Pediatrics, 79, 99–106.

    Article  PubMed  Google Scholar 

  • Ashkenazi-Hoffnung, L., Lebenthal, Y., Wyatt, A. W., et al. (2010). A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. Human Genetics, 127, 721–729.

    Article  PubMed  Google Scholar 

  • Dateki, S., Kosaka, K., Hasegawa, K., et al. (2010). Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype. The Journal of Clinical Endocrinology and Metabolism, 95, 756–764.

    Article  CAS  PubMed  Google Scholar 

  • Dattani, M., & Preece, M. (2004). Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment. Lancet, 363, 1977–1987.

    Article  CAS  PubMed  Google Scholar 

  • Desai, M. P., Colaco, M. P., Sanghavi, K. P., et al. (1991). Profile of growth hormone deficiency in Bombay. Indian Journal of Pediatrics, 58, 33–42.

    Article  PubMed  Google Scholar 

  • Desai, M. P., Mithbawkar, S. M., Upadhye, P. S., et al. (2013). Molecular genetic studies in isolated growth hormone deficiency (IGHD). Indian Journal of Pediatrics, 80, 623–630.

    Article  PubMed  Google Scholar 

  • GH Research Society. (2000). Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. The Journal of Clinical Endocrinology and Metabolism, 85, 3990–3993.

    Google Scholar 

  • Kelberman, D., Rizzoti, K., Avilio, A., et al. (2006). Mutations within Sox2/ SOX2 are associated with abnormalities in the hypothalamopituitary-gonadal axis in mice and humans. The Journal of Clinical Investigation, 116, 2442–2445.

    PubMed Central  CAS  PubMed  Google Scholar 

  • Kempers, M. J., van der Crabben, S. N., de Vroede, M., et al. (2013). Splice site mutations in GH1 detected in previously (genetically) undiagnosed families with congenital isolated growth hormone deficiency Type II. Hormone Research in Pædiatrics, 80, 390–396.

    Article  CAS  PubMed  Google Scholar 

  • Lindsay, R., Feldkamp, M., Harris, D., et al. (1994). Growth study: Growth standards and the prevalence of growth hormone deficiency. Journal of Pediatrics, 125, 29–35.

    Article  CAS  PubMed  Google Scholar 

  • McCabe, M. J., Alatzoglou, K. S., & Dattani, M. T. (2011). Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. Best Practice & Research Clinical Endocrinology & Metabolism, 25, 115–124.

    Article  CAS  Google Scholar 

  • Mullis, P. E. (2007). Genetics of growth hormone deficiency. Endocrinology and Metabolism Clinics of North America, 36, 17–36.

    Article  CAS  PubMed  Google Scholar 

  • Nadar, R., Khatod, K., Phadke, N., et al. (2013). Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling. Indian Journal of Human Genetics, 19, 475–478.

    Article  PubMed Central  PubMed  Google Scholar 

  • Pinto, G., Adan, L., Souberbielle, J. C., et al. (1999). Idiopathic growth hormone deficiency: Presentation, diagnostic and treatment during childhood. Annales d’endocrinologie, 60, 224–231.

    CAS  PubMed  Google Scholar 

  • Rimoin, D. L., & Phillips, J. A., III. (1997). Genetic disorders of the pituitary gland. In D. L. Rimoin, J. M. Connor, & R. E. Pyeritz (Eds.), Principles and practice of medical genetics (3rd ed., pp. 1331–1364). New York: Churchill Livingstone.

    Google Scholar 

  • Rogol, A. D. (2014). Treatment of growth hormone deficiency in children. UpToDate. Available at www.uptodate.com/contents/

  • Shalet, S. M., Toogood, A., Rahi, A., et al. (1998). The diagnosis of growth hormone deficiency in Children and adults. Endocrine Reviews, 19, 203–223.

    Article  CAS  PubMed  Google Scholar 

  • Stanley, T. (2012). Diagnosis of growth hormone deficiency in childhood. Current Opinion in Endocrinology, Diabetes, and Obesity, 19, 47–52.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Stewart, D. M., Tian, L., Notarangelo, L. D., et al. (2008). X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update. Immunologic Research, 40, 262–270.

    Article  CAS  PubMed  Google Scholar 

  • Tajima, T., Ohtake, A., Hoshino, M., et al. (2009). OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. The Journal of Clinical Endocrinology and Metabolism, 94, 314–319.

    Article  CAS  PubMed  Google Scholar 

  • Tauber, M., Moulin, P., Pienkowski, C., et al. (1997). Growth hormone (GH) retesting and auxological data in 131 GH-deficient patients after completion of treatment. The Journal of Clinical Endocrinology and Metabolism, 82, 352–356.

    Article  CAS  PubMed  Google Scholar 

  • Wacharasindhu, S., Cotterill, A. M., Camacho-Hübner, C., et al. (1996). Normal growth hormone secretion in growth hormone insufficient children retested after completion of linear growth. Clinical Endocrinology, 45, 553–556.

    Article  CAS  PubMed  Google Scholar 

  • Wit, J. M., Kiess, W., & Mullis, P. (2011). Genetic evaluation of short stature. Best Practice & Research Clinical Endocrinology & Metabolism, 25, 1–17.

    Article  CAS  Google Scholar 

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Correspondence to Harold Chen .

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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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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

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