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Yang, C. 17 Alpha-Hydroxylase/17,20-Lyase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/3922 (accessed on 25 September 2026).
Yang C. 17 Alpha-Hydroxylase/17,20-Lyase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/3922. Accessed September 25, 2026.
Yang, Catherine. "17 Alpha-Hydroxylase/17,20-Lyase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/3922 (accessed September 25, 2026).
Yang, C. (2020, December 23). 17 Alpha-Hydroxylase/17,20-Lyase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/3922
Yang, Catherine. "17 Alpha-Hydroxylase/17,20-Lyase Deficiency." Encyclopedia. Web. 23 December, 2020.
17 Alpha-Hydroxylase/17,20-Lyase Deficiency
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/17-alpha-hydroxylase-17-20-lyase-deficiency

17 alpha(α)-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17α-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17α-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation.

genetic conditions

References

  1. Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, Kim SY, Park MS, Yoo HW. Areview of the literature on common CYP17A1 mutations in adults with17-hydroxylase/17,20-lyase deficiency, a case series of such mutations amongKoreans and functional characteristics of a novel mutation. Metabolism. 2014Jan;63(1):42-9. doi: 10.1016/j.metabol.2013.08.015.
  2. Marsh CA, Auchus RJ. Fertility in patients with genetic deficiencies ofcytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency. Fertil Steril. 2014 Feb;101(2):317-22. doi:10.1016/j.fertnstert.2013.11.011. Review.
  3. Miller WL. The syndrome of 17,20 lyase deficiency. J Clin Endocrinol Metab.2012 Jan;97(1):59-67. doi: 10.1210/jc.2011-2161.
  4. Rosa S, Steigert M, Lang-Muritano M, l'Allemand D, Schoenle EJ, Biason-Lauber A. Clinical, genetic and functional characteristics of three novel CYP17A1mutations causing combined 17alpha-hydroxylase/17,20-lyase deficiency. Horm ResPaediatr. 2010;73(3):198-204. doi: 10.1159/000284362.
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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
View Times: 1.1K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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