John A Phillips, Vanderbilt University Medical Center, Nashville, Tennessee, USA
Published online: January 2006
DOI: 10.1038/npg.els.0005522
Many genes that comprise endocrine pathways have been discovered. A variety of endocrine disorders caused by variations in these genes are now well understood in terms of their molecular basis and mode of inheritance.
Keywords: endocrine disorders; genetics; endocrinopathies; dwarfism; pituitary; adrenal; diabetes insipidus; thyroid
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Figure 1. growth hormone (GHN) pathway, showing the roles of interdependent genes required to produce transcription factors, ligands such as GHN, growth hormone receptors such as GHR, and other gene products needed for normal growth. Gene defects in the GHN pathway that cause disease include: (1) combined pituitary hormone deficiency (CPHD; HESX1); (2) CPHD (LHX3); (3) CPHD (PROP1); (4) CPHD (POU1F1); (5) isolated GHN deficiency (IGHD; GHRHR); (6) IGHD (GH1); (7) GHN resistance (GHR); and (8) GHN resistance (IGF1). SST; GHRH: GHN-releasing hormone; IGF1R: insulin-like growth factor 1 receptor; SST: soamatostatin; SSTR: SST receptor.
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Figure 2. A simplified G protein cycle coupled to adenylyl cyclase. Inappropriate activation of this pathway can result from mutations that cause: (1) hormone receptor activation in the absence of hormone, (2) guanosine diphosphate–guanosine triphosphate (GDP/GTP) exchange in the absence of activated receptor and (3) inhibition of guanosine triphosphatase (GTPase) activity. cAMP: cyclic adenosine monophosphate; P
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| References | |
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| book Moseley CT, Phillips JA III and Rimoin DL (2002) "Genetic disorders of the pituitary gland". In: Rimoin DL, Connor JM and Pyeritz RE (eds.) Principles and Practice of Medical Genetics, 4th ed. pp. 2135–2182. New York: Churchill Livingstone. | |
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| 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, genetic disorders, DNA, genetic maps and mutations databases http://www.ncbi.nlm.nih.gov/omim | |
| ePath CYP21A2 (cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2); LocusID: 1589. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1589 | |
| ePath GNAS (GNAS complex locus); LocusID: 2778. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2778 | |
| ePath IGF1 (insulin-like growth factor 1 (somatomedin C)); LocusID: 3479. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3479 | |
| ePath POU1F1 (POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1)); LocusID: 5449. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5449 | |
| ePath TRHR (thyrotropin-releasing hormone receptor); LocusID: 7201. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7201 | |
| ePath CYP21A2 (cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2); MIM number: 201910. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?201910 | |
| ePath GNAS (GNAS complex locus); MIM number: 139320. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?139320 | |
| ePath IGF1 (insulin-like growth factor 1 (somatomedin C)); MIM number: 147440. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?147440 | |
| ePath POU1F1 (POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1)); MIM number: 173110. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?173110 | |
| ePath TRHR (thyrotropin-releasing hormone receptor); MIM number: 188545. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?188545 | |
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