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Revision as of 20:27, 1 March 2018

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism

To date at least twenty five different genes have been implicated in causing GnRH deficiency conditions such Kallmann syndrome (KS) or other forms of hypogonadotropic hypogonadism through a disruption in the production or activity of GnRH. These genes involved cover all forms of inheritance and no one gene defect has been shown to be common to all cases which makes genetic testing and inheritance prediction difficult.[1][2]

The number of genes known to cause cases of KS / CHH is still increasing.[3] In addition it is thought that some cases of KS / CHH are caused by two separate gene defects occurring at the same time.[4]

Genes

A table of known genes responsible for cases of GnRH deficiency conditions is shown below. Listed are the estimated prevalence of cases caused by the specific gene, additional associated symptoms and the form of inheritance.[4][5] Between 35-45% of cases of KS / CHH have an unknown genetic cause.[6]

Prevalence (%) OMIM Name Gene Locus Clinical features Syndromes Associated Inheritance pattern
5[4], 5-10[7] Template:OMIM2 ANOS1 (KAL1) ANOS1 Xp22.3 Anosmia. Bimanual synkinesis. Renal agenesis. x-linked
10[4][7] Template:OMIM2 KAL2 FGFR1 8p11.23 Cleft lip and / or cleft palate. Septo-optic dysplasia. Skeletal anomomalies. Bimanual synkinesis. Hand / foot malformations such as ectrodactyly. Combined pituitary hormone deficiency. Hartsfield syndrome Autosomal dominant
6-16[4], 5-10[7] Template:OMIM2 GNRHR GNRHR 4q13.2 Autosomal recessive
6[4], 5-10[7] Template:OMIM2 CHD7 CHD7 8q12.2 Congenital hearing loss. Semicircular canal hypoplasia. CHARGE syndrome Autosomal dominant
3-6[4], <2[7] Template:OMIM2 KAL4 PROK2 3p13 Autosomal recessive
3-6[4], 5[7] Template:OMIM2 KAL3 PROKR2 20p12.3 Combined pituitary hormone deficiency. Morning Glory syndrome Autosomal recessive
3[4], 2-5[7] Template:OMIM2 IL17RD IL17RD 3p14.3 Congenital hearing loss. Autosomal recessive
2[4], 2-5[7] Template:OMIM2 SOX10 SOX10 22q13.1 Congenital hearing loss. Waardenburg syndrome Autosomal dominant
2[4], <2[7] Template:OMIM2 KISS1 KiSS-1 1q32.1 Autosomal recessive
2[4], <2[7] Template:OMIM2 KISS1R (GPR54) GPR54 19p13.3 Autosomal recessive
<2[7] Template:OMIM2 FGF8 FGF8 10q24.32 Cleft lip and / or cleft palate. Skeletal anomomolies. Bimanual synkinesis. Combined pituitary hormone deficiency. Autosomal dominant
<2[4], 1 report[7] Template:OMIM2 FGF17 FGF17 8p21.3 Dandy-Walker syndrome Autosomal dominant
<2[4] Template:OMIM2 LEP LEP 7q32.1 Early onset of morbid obesity. Autosomal recessive
<2[4] Template:OMIM2 LEPR LEPR 1p31.3 Early onset of morbid obesity. Autosomal recessive
<2[4] Template:OMIM2 PCSK1 PCSK1 5q15 Early onset of morbid obesity. Autosomal recessive
Rare[4], 1 report[7] Template:OMIM2 FEZF1 FEZF1 7q31.32 Autosomal recessive
Rare[4], 1 report[7] Template:OMIM2 CCDC141 CCDC141 2q31.2 Unknown
Rare[4], <2[7] Template:OMIM2 SEMA3A SEMA3A 7q21.11 Autosomal dominant
1 report[7] Template:OMIM2 SEMA3E SEMA3E 7q21.11 CHARGE syndrome Autosomal dominant
Rare[4] Template:OMIM2 SEMA7A SEMA7A 15q24.1 Autosomal dominant
Rare[4], <2[7] Template:OMIM2 HS6ST1 HS6ST1 2q14.3 Cleft lip and / or cleft palate. Skeletal anomalies. Autosomal dominant
Rare[4], 1 report[7] Template:OMIM2 WDR11 WDR11 10q26.12 Combined pituitary hormone deficiency. Autosomal dominant
Rare[4] Template:OMIM2 NELF (NSMF) NELF 9q34.3 Autosomal dominant
Rare[4] Template:OMIM2 IGSF10 IGSF10 3q24 Autosomal dominant
Rare[4], <2[7] Template:OMIM2 GNRH1 GNRH1 8p21.2 Autosomal recessive
Rare[4], <2[7] Template:OMIM2 TAC3 TAC3 12q3 Autosomal recessive
Rare[4], 5[7] Template:OMIM2 TACR3 TACR3 4q24 Autosomal recessive
Rare[4] Template:OMIM2 OTUD4 OTUD4 4q31.21 Cerebellar ataxia. Gordon Holmes syndrome Autosomal recessive
Rare[4] Template:OMIM2 RNF216 RNF216 7p22.1 Cerebellar ataxia. Gordon Holmes syndrome Autosomal recessive
Rare[4] Template:OMIM2 PNPLA6 PNPLA6 19p13.2 Cerebellar ataxia. Gordon Holmes syndrome Autosomal recessive
1 report[7] Template:OMIM2 AXL AXL 19q13.2 Unknown
Rare[4] Template:OMIM2 DMXL2 DMXL2 15q21.2 Polyendocrine deficiencies and polyneuropathy. Autosomal recessive
Rare[4] Template:OMIM2 NR0B1 (DAX1) NR0B1 Xp21.2 Adrenal hypoplasia. x-linked
1 report[7] Template:OMIM2 DUSP6 DUSP6 12q21.33 Autosomal dominant
1 report[7] Template:OMIM2 POLR3B POLR3B 12q23.3 Autosomal recessive
1 report[7] Template:OMIM2 SPRY4 SPRY4 5q31.3 Autosomal dominant
1 report[7] Template:OMIM2 FLRT3 FLRT3 20p12.1 Autosomal dominant
1 report[7] Template:OMIM2 SRA1 SRA1 19q13.33 Unknown
Rare[4] Template:OMIM2 HESX1 HESX1 3p14.3 Septo-optic dysplasia. Combined pituitary hormone deficiency. Autosomal recessive and dominant

See also

References

  1. ^ Layman L. (2013). "Clinical Testing for Kallmann Syndrome". J Clin Endocrinol Metab. 98 (5): 1860–1862. doi:10.1210/jc.2013-1624. PMC 3644595. PMID 23650337.
  2. ^ Valdes-Socin H, Rubio Almanza M, Tomé Fernández-Ladreda M, Debray FG, Bours V, Beckers A (2014). "Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes". Front Endocrinol (Lausanne). 5 (109). doi:10.3389/fendo.2014.00109. PMC 4088923. PMID 25071724.{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
  3. ^ Mitchell AL, Dwyer A, Pitteloud N, Quinton R (2011). "Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory". Trends Endocrinol. Metab. 22 (7): 249–58. doi:10.1016/j.tem.2011.03.002. PMID 21511493.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  4. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag Lima Amato LG, Latronico AC, Gontijo Silveira LF (2017). "Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism". Endocrinol Metab Clin North Am. 46 (2): 283–303. doi:10.1016/j.ecl.2017.01.010. PMID 28476224.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  5. ^ Boehm U, Bouloux PM, Dattani MT, et al. (2015). "Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis and treatment". Nat Rev Endocrinol. 11 (Jul 21): 547–64. doi:10.1038/nrendo.2015.112. PMID 26194704.
  6. ^ Vezzoli V, Duminuco P, Bassi I, Guizzardi F, Persani L, Bonomi M (2016). "The complex genetic basis of congenital hypogonadotropic hypogonadism". Minerva Endocrinol. 41 (2): 223–39. PMID 26934720.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  7. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa Balasubramanian R, Crowley WF Jr (2017). "Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency". SourceGeneReviews® [Internet]. PMID 20301509.
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