Isolated Growth Hormone Deficiency in Children

Living reference work entry

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).

Keywords

Hepatitis Diarrhea Arginine Propranolol Glucagon 

References

  1. 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.PubMedGoogle Scholar
  2. Alatzoglou, K. S., & Dattani, M. T. (2012). Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). Indian Journal of Pediatrics, 79, 99–106.CrossRefPubMedGoogle Scholar
  3. 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.CrossRefPubMedGoogle Scholar
  4. 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.CrossRefPubMedGoogle Scholar
  5. Dattani, M., & Preece, M. (2004). Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment. Lancet, 363, 1977–1987.CrossRefPubMedGoogle Scholar
  6. 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.CrossRefPubMedGoogle Scholar
  7. 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.CrossRefPubMedGoogle Scholar
  8. 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
  9. 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.PubMedCentralPubMedGoogle Scholar
  10. 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.CrossRefPubMedGoogle Scholar
  11. 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.CrossRefPubMedGoogle Scholar
  12. 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.CrossRefGoogle Scholar
  13. Mullis, P. E. (2007). Genetics of growth hormone deficiency. Endocrinology and Metabolism Clinics of North America, 36, 17–36.CrossRefPubMedGoogle Scholar
  14. 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.PubMedCentralCrossRefPubMedGoogle Scholar
  15. 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.PubMedGoogle Scholar
  16. 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
  17. Rogol, A. D. (2014). Treatment of growth hormone deficiency in children. UpToDate. Available at www.uptodate.com/contents/
  18. 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.CrossRefPubMedGoogle Scholar
  19. Stanley, T. (2012). Diagnosis of growth hormone deficiency in childhood. Current Opinion in Endocrinology, Diabetes, and Obesity, 19, 47–52.PubMedCentralCrossRefPubMedGoogle Scholar
  20. 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.CrossRefPubMedGoogle Scholar
  21. 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.CrossRefPubMedGoogle Scholar
  22. 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.CrossRefPubMedGoogle Scholar
  23. 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.CrossRefPubMedGoogle Scholar
  24. Wit, J. M., Kiess, W., & Mullis, P. (2011). Genetic evaluation of short stature. Best Practice & Research Clinical Endocrinology & Metabolism, 25, 1–17.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA
  2. 2.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA

Personalised recommendations