Hypogonadism pathophysiology: Difference between revisions
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! rowspan="5" |Kalman Syndrome | ! rowspan="5" |Kalman Syndrome | ||
|ANOS 1 | |ANOS 1<ref name="pmid1922361">{{cite journal| author=Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R et al.| title=A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. | journal=Nature | year= 1991 | volume= 353 | issue= 6344 | pages= 529-36 | pmid=1922361 | doi=10.1038/353529a0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1922361 }}</ref> | ||
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|SOX 10 | |SOX 10 | ||
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Revision as of 17:33, 20 July 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]
Overview
Pathophysiology
Pathogenesis
Hypogonadism in males
- The hypogonadism pathogenesis in males depends mainly on the testosterone deficiency. Testosterone secretion occurs as the following:
- Testosterone is secreted in response to stimulation signals from the brain cortex to the hypothalamus. The hypothalamus by its role secrets the gonadotropin releasing hormones (GnRH).
- GnRH stimulates the pituitary gland which by its role secretes the gonadal hormones the Follicle Stimulating Hormone (FSH) and the Luteinizing Hormone (LH).
- In males, LH stimulates the leydig cells in the testes which produce testosterone by converting the cholesterol to testosterone.
- Production of testosterone from the testes gives negative feed back to the pituitary. This feedback inhibit the production of FSH and LH from the pituitary.
- Testosterone deficiency can occur when different acquired or congenital disease affect the organs responsible for its secretion. So, pathogenesis of the hypogonadism in males depends on the underlying cause.[1]
- GnRH deficiency has a main role in hypogonadism pathogenesis in males as it leads to decrease of the gonadal hormone and deficiency of testosterone eventually.[2]
- It has been proved that GnRH deficiency is associated with most cases of idiopathic hypogonadotrophic hypogonadism in males.
Genetic
- Gentic mutations have a big role in development of the hypogonadism especially congenital hypogonadotropic hypogonadism. There are more than 25 genes participate in the pathogenesis of hypogonadism.[3]
- In this table number of genes with the associated diseases causing hypogonadism are enlisted:
| Associated disease | Genes | Mutation |
|---|---|---|
| Kalman Syndrome | ANOS 1[4] | gene deletions or point mutations. |
| SOX 10 | ||
| SEMA3A | ||
| IL17RD | ||
| FEZF1 | ||
| KISS1R | ||
| KISS | ||
| GNRH1 | ||
| TAC3 | ||
| FGFR1 | ||
| FGF8 | ||
| PROK2
PROKR2 |
||
| CHD7 | ||
| NSMF |
References
- ↑ Kumar P, Kumar N, Thakur DS, Patidar A (2010). "Male hypogonadism: Symptoms and treatment". J Adv Pharm Technol Res. 1 (3): 297–301. doi:10.4103/0110-5558.72420. PMC 3255409. PMID 22247861.
- ↑ Spratt DI, Carr DB, Merriam GR, Scully RE, Rao PN, Crowley WF (1987). "The spectrum of abnormal patterns of gonadotropin-releasing hormone secretion in men with idiopathic hypogonadotropic hypogonadism: clinical and laboratory correlations". J Clin Endocrinol Metab. 64 (2): 283–91. doi:10.1210/jcem-64-2-283. PMID 3098771.
- ↑ Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L; et al. (2015). "Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment". Nat Rev Endocrinol. 11 (9): 547–64. doi:10.1038/nrendo.2015.112. PMID 26194704.
- ↑ Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R; et al. (1991). "A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules". Nature. 353 (6344): 529–36. doi:10.1038/353529a0. PMID 1922361.