Growth Disorders: Hereditary

John A Phillips, Vanderbilt University School of Medicine, Nashville, Tennessee, USA

Published online: January 2006

DOI: 10.1038/npg.els.0005944

A variety of familial endocrine and other Mendelian disorders, as well as syndromes and cytogenetic disorders that affect growth, are caused by mutations in genes that function in metabolic pathways.

Keywords: growth hormone; congenital adrenal hyperplasia; isolated growth hormone deficiency; combined pituitary hormone deficiency; endocrinopathies; chromosomal disorders

 References
    book Cogan JD and Phillips III JA (2001) "Inherited defects in growth hormone synthesis and action". In: Scriver CR, Beaudet AL, Sly  WS and Valle D (eds.) The Metabolic and Molecular Bases of Inherited Disease, 8th ed. pp. 4159–4180. New York, NY: McGraw-Hill.
    Cogan JD, Wu W, Phillips III JA, et al. (1998) The PROP1 2-bp deletion is a common cause of CPHD. Journal of Clinical Endocrinology and Metabolism 83: 3346–3349.
    Dattani MT, Martinez-Barbera J-P, Thomas PQ, et al. (1998) Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nature Genetics 19: 125–133.
    Leisti J, Leiti S, Perheentupa J, et al. (1973) Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18. Archives of Disease in Childhood 48: 320–322.
    Netchine I, Sobrier M-L, Krude H, et al. (2000) Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nature Genetics 25: 182–186.
    book Rimoin DL and Phillips III JA (1997) "Genetic disorders of the pituitary gland". In: Rimoin DL, Connor JM and Pyeritz RE (eds.) Principles and Practice of Medical Genetics, 3rd edn, pp. 1331–1364. New York, NY: Churchill Livingstone.
    Ross J, Long L, Loriaux D and Cutler G (1985) Growth hormone secretory dynamics in Turner syndrome. Journal of Pediatrics 106: 202–206.
    Salvatori R, Gondo RG, de Aguirar Oliveira MH, et al. (1999) Familial isolated growth hormone deficiency due to a novel mutation in the growth hormone-releasing hormone receptor. Journal of Clinical Endocrinology and Metabolism 84: 917–923.
    other Shohat M, Hermon V, Melmed S, et al. (1990) Deletion of 20p 11.23pter with growth hormone neurosecretory disorder but normal growth hormone releasing hormone genes. American Journal of Medical Genetics.
    Takahashi Y, Kaji H, Okimura Y, et al. (1996) Brief report: short stature caused by a mutant growth hormone. New England Journal of Medicine 334: 432–436.
    Woods KA, Camacho-Hubner C, Savage MO and Clark AJL (1996) Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor 1 gene. New England Journal of Medicine 335: 1363–1367.
    Wu W, Cogan JD, Pfaffle RW, et al. (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nature Genetics 18: 147–149.
 Further Reading
    book Baxter JD, Melmed S and New MI (eds.) (2002) Genetics in Endocrinology. Philadelphia, PA: Lippincott Williams & Wilkins.
 Web Links
    ePath Online Mendelian Inheritance in Man (OMIM). Source of information on genes, diseases; DNA, mapping & mutations http://www.ncbi.nlm.nih.gov/omim

Related Sub-Topics:

Developmental Disorders | Growth and Development | Specific Genetic Disorders | Mutational Mechanisms of Genetic Disease | Chromosomal Disorders | Quantitative Genetics | Mechanisms of Cell Death, Senescence and Metabolism
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Article Title: Growth Disorders: Hereditary
 
How to Cite close
Phillips, John A(Jan 2006) Growth Disorders: Hereditary. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005944]