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Yang, C. 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/3923 (accessed on 25 September 2026).
Yang C. 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/3923. Accessed September 25, 2026.
Yang, Catherine. "17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency" Encyclopedia, https://encyclopedia.pub/entry/3923 (accessed September 25, 2026).
Yang, C. (2020, December 23). 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/3923
Yang, Catherine. "17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency." Encyclopedia. Web. 23 December, 2020.
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency

17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a male sex hormone (androgen) called testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.

genetic conditions

References

  1. Ben Rhouma B, Kallabi F, Mahfoudh N, Ben Mahmoud A, Engeli RT, Kamoun H,Keskes L, Odermatt A, Belguith N. Novel cases of Tunisian patients with mutationsin the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a foundereffect. J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):86-94. doi:10.1016/j.jsbmb.2016.03.007.
  2. Bertelloni S, Balsamo A, Giordani L, Fischetto R, Russo G, Delvecchio M,Gennari M, Nicoletti A, Maggio MC, Concolino D, Cavallo L, Cicognani A, ChiumelloG, Hiort O, Baroncelli GI, Faienza MF. 17beta-Hydroxysteroid dehydrogenase-3deficiency: from pregnancy to adolescence. J Endocrinol Invest. 2009Sep;32(8):666-70. doi: 10.3275/6281.
  3. Castro CC, Guaragna-Filho G, Calais FL, Coeli FB, Leal IR, Cavalcante-JuniorEF, Monlleó IL, Pereira SR, Silva RB, Gabiatti JR, Marques-de-Faria AP,Maciel-Guerra AT, Mello MP, Guerra-Junior G. Clinical and molecular spectrum ofpatients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency. ArqBras Endocrinol Metabol. 2012 Nov;56(8):533-9.
  4. Engeli RT, Tsachaki M, Hassan HA, Sager CP, Essawi ML, Gad YZ, Kamel AK, MazenI, Odermatt A. Biochemical Analysis of Four Missense Mutations in the HSD17B3Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients. JSex Med. 2017 Sep;14(9):1165-1174. doi: 10.1016/j.jsxm.2017.07.006.
  5. Faienza MF, Giordani L, Delvecchio M, Cavallo L. Clinical, endocrine, andmolecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency. JEndocrinol Invest. 2008 Jan;31(1):85-91. Review.
  6. Galdiero M, Vitale P, Simeoli C, Afeltra L, Melis D, Alviggi C, Cariati F, Lo Calzo F, Di Somma C, Colao A, Pivonello R. The 17β-hydroxysteroid dehydrogenasetype 3 deficiency: a case report of an 18-year patient and review of theliterature. Minerva Endocrinol. 2013 Mar;38(1):113-22. Review.
  7. Hassan HA, Mazen I, Gad YZ, Ali OS, Mekkawy M, Essawi ML. Mutational Profileof 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency. Sex Dev.2016;10(2):66-73. doi: 10.1159/000445311.
  8. Mendonca BB, Gomes NL, Costa EM, Inacio M, Martin RM, Nishi MY, Carvalho FM,Tibor FD, Domenice S. 46,XY disorder of sex development (DSD) due to17β-hydroxysteroid dehydrogenase type 3 deficiency. J Steroid Biochem Mol Biol.2017 Jan;165(Pt A):79-85. doi: 10.1016/j.jsbmb.2016.05.002.Review.
  9. Yu B, Liu Z, Mao J, Wang X, Zheng J, Xiong S, Cui M, Ma W, Huang Q, Xu H,Huang B, Nie M, Wu X. Novel mutations of HSD17B3 in three Chinese patients with46,XY Disorders of Sex Development. Steroids. 2017 Oct;126:1-6. doi:10.1016/j.steroids.2017.07.009.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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