Kallmann syndrome
Kallmann syndrome (KS) be a genetic disorder wey dey prevent a person from starting anaa fully completing puberty. Kallmann syndrome be one of a group of conditions dem term hypogonadotropic hypogonadism.[1] To distinguish am from oda forms of hypogonadotropic hypogonadism, Kallmann syndrome get de additional symptom of a total lack of sense of smell (anosmia) anaa a reduced sense of smell.[2][3][4] If dem lef am untreated, people go get poorly defined secondary sexual characteristics, dey show signs of hypogonadism, almost invariably be infertile den at increased risk of dem dey develop osteoporosis.[2] A range of oda physical symptoms wey dey affect de face, hands den skeletal system sanso fi occur.[3]
Terminology
[edit | edit source]De terminology dem dey use wen describing cases of HH vary den fi include:
- GnRH deficiency
- congenital hypogonadotropic hypogonadism (CHH)[5]
- idiopathic/isolated hypogonadotropic hypogonadism (IHH)
- normosmic hypogonadotropic hypogonadism (nHH)
- hypothalamic hypogonadism
- olfacto-genital syndrome
References
[edit | edit source]- ↑ Young, J. (1999-08-01). "Antimullerian Hormone in Patients with Hypogonadotropic Hypogonadism". Journal of Clinical Endocrinology & Metabolism. 84 (8): 2696–2699. doi:10.1210/jcem.84.8.5972. ISSN 0021-972X. PMID 10443662.
- 1 2 "Kallmann syndrome". Genetics Home Reference. US Library of Medicine. National Institutes for Health. Genetic and Rare Diseases Information. June 26, 2016. Retrieved December 17, 2017.
- 1 2 Balasubramanian R, Crowley WF Jr (2017). "Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency". SourceGeneReviews. PMID 20301509.
- ↑ Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J (September 2015). "Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment". Nature Reviews. Endocrinology. 11 (9): 547–64. doi:10.1038/nrendo.2015.112. hdl:11567/821921. PMID 26194704.
- ↑ 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". Frontiers in Endocrinology. 5: 109. doi:10.3389/fendo.2014.00109. PMC 4088923. PMID 25071724.