Endocrine Disorders: Hereditary


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

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.

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; Pi: inorganic phosphate.



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Further Reading

Baxter JD, Melmed S and New MI (eds.) (2002) Genetics in Endocrinology. Philadelphia, PA: Lippincott, Williams & Wilkins.

Web Links

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

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

GNAS (GNAS complex locus); LocusID: 2778. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2778

IGF1 (insulin‐like growth factor 1 (somatomedin C)); LocusID: 3479. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3479

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

TRHR (thyrotropin‐releasing hormone receptor); LocusID: 7201. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7201

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

GNAS (GNAS complex locus); MIM number: 139320. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?139320

IGF1 (insulin‐like growth factor 1 (somatomedin C)); MIM number: 147440. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?147440

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

TRHR (thyrotropin‐releasing hormone receptor); MIM number: 188545. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?188545

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How to Cite close
Phillips, John A(Jan 2006) Endocrine Disorders: Hereditary. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005522]