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Kallmann syndrome

From Wikipedia
Kallmann syndrome
class of disease
Subclass ofhypogonadotropic hypogonadism, disease, intersex variation Edit
Dem name afterFranz Josef Kallmann Edit
Health specialtyendocrinology Edit
Symptoms and signsanosmia, hypogonadism, osteoporosis, infertility Edit
NCI Thesaurus IDC75479 Edit

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

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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

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  1. 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.
  2. 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.
  3. 1 2 Balasubramanian R, Crowley WF Jr (2017). "Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency". SourceGeneReviews. PMID 20301509.
  4. 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.
  5. 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.
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