Genetics of GnRH deficiency conditions information
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism
To date, at least 25 different genes have been implicated in causing gonadotropin-releasing hormone (GnRH) deficiency conditions such as Kallmann syndrome (KS) or other forms of congenital hypogonadotropic hypogonadism (CHH) 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]
^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.
^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): 109. doi:10.3389/fendo.2014.00109. PMC 4088923. PMID 25071724.
^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. S2CID 23578201.
^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.
and 28 Related for: Genetics of GnRH deficiency conditions information
causing gonadotropin-releasing hormone (GnRH) deficiencyconditions such as Kallmann syndrome (KS) or other forms of congenital hypogonadotropic hypogonadism...
action of the hypothalamic hormone GnRH. The term isolated GnRHdeficiency (IGD) has increasingly been used to describe this group ofconditions as it...
properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation...
few or no side effects when sex hormone deficiency is avoided with concomitant estrogen therapy. However, GnRH modulators tend to be very expensive (typically...
version of gonadotropin-releasing hormone (GnRH, the hypothalamic hormone) can differentiate between constitutional delay of puberty and a GnRHdeficiency in...
onset of true puberty. The onset of puberty is associated with high GnRH pulsing, which precedes the rise in sex hormones, LH and FSH. Exogenous GnRH pulses...
syndrome, Prader-Willi syndrome and other genetic conditions that lead to GnRH or gonadotropin deficiency. Testicular azoospermia is seen in Klinefelter...
gonadotropin-releasing hormone (GnRH) from the hypothalamus. GnRH acts on the pituitary to stimulate the release of follicle stimulating hormone (FSH)...
Residents of certain areas of the world, due to natural deficiency and governmental inaction, are severely affected by iodine deficiency. India has 500...
modulators (GnRH modulators), progestogens, and estrogens. Antiandrogens are used in the treatment of an assortment of androgen-dependent conditions in both...
Karges B, Karges W, de Roux N (2003). "Clinical and molecular geneticsof the human GnRH receptor". Human Reproduction Update. 9 (6): 523–30. doi:10.1093/humupd/dmg040...
recombinant form of HGH called somatropin (INN) is used as a prescription drug to treat children's growth disorders and adult growth hormone deficiency. In the...
Gonadotropin-releasing hormone agonist (GnRH agonist) may improve the ability of those who are infertile to get pregnant. Surgical removal of endometriosis may be used...
lowering the endogenous FSH levels with ethinylestradiol (EE) or with a GnRH-a the receptor sites are free and treatment with exogenous recombinant FSH...
majority of cases of rickets for children with fat malabsorption conditions. Osteomalacia is a disease in adults that results from vitamin D deficiency. Characteristics...
elevated hydroxylation of estrogen and the abnormally decreased levels of androgens in females. In addition, differences in GnRH signalling have also been...
mainly, androgens (namely testosterone) and GnRH analogues. While the therapy cannot undo the effects of a person's first puberty, developing secondary...
gonadotropin-releasing hormone analogue (GnRH analogue) or orchiectomy (that is, surgical or medical castration) in the treatment of stage D2 metastatic prostate...
of that. The main methods of fertility preservation are ovarian protection by GnRH agonists, cryopreservation of ovarian tissue, eggs or sperm, or of...
in the geneticsof schizophrenia". Human Molecular Genetics. 12 Spec No 2: R125–133. doi:10.1093/hmg/ddg302. PMID 12952866. Torrey EF, Yolken RH (August...
a correlation between iodine deficiency and gastric cancer. About 10% of cases run in families, and between 1 and 3% of cases are due to genetic syndromes...
Properties of Food Proteins. Boca Raton, Florida: CRC Press. p. 242. ISBN 978-1-56676-960-0. Bogue RH (1923). "Conditions Affecting the Hydrolysis of Collagen...
regulation of metabolism. T3 and T4 are partially composed of iodine, derived from food. A deficiencyof iodine leads to decreased production of T3 and T4...
Journal of Human Genetics. 14 (4): 353–62. PMC 1932342. PMID 13937884. Ioannou GN, Bryson CL, Boyko EJ (2007-11-01). "Prevalence and trends of insulin...
Global Information