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Yang, C. 3-Beta-Hydroxysteroid Dehydrogenase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4133 (accessed on 25 September 2026).
Yang C. 3-Beta-Hydroxysteroid Dehydrogenase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4133. Accessed September 25, 2026.
Yang, Catherine. "3-Beta-Hydroxysteroid Dehydrogenase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4133 (accessed September 25, 2026).
Yang, C. (2020, December 23). 3-Beta-Hydroxysteroid Dehydrogenase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4133
Yang, Catherine. "3-Beta-Hydroxysteroid Dehydrogenase Deficiency." Encyclopedia. Web. 23 December, 2020.
3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency

3-beta (β)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones and control salt levels in the body. People with 3β-HSD deficiency lack many of the hormones that are made in these glands. 3β-HSD 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. Lutfallah C, Wang W, Mason JI, Chang YT, Haider A, Rich B, Castro-Magana M,Copeland KC, David R, Pang S. Newly proposed hormonal criteria via genotypicproof for type II 3beta-hydroxysteroid dehydrogenase deficiency. J ClinEndocrinol Metab. 2002 Jun;87(6):2611-22.
  2. Pan Y, Zhong S, Hu RM, Gong W. Mutation of 3β-hydroxysteroid dehydrogenase(3β-HSD) at the 3'-untranslated region is associated with adrenocorticalinsufficiency. Mol Med Rep. 2012 Dec;6(6):1305-8. doi: 10.3892/mmr.2012.1107.
  3. Pang S, Carbunaru G, Haider A, Copeland KC, Chang YT, Lutfallah C, Mason JI.Carriers for type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency canonly be identified by HSD3B2 genotype study and not by hormone test. ClinEndocrinol (Oxf). 2003 Mar;58(3):323-31.
  4. Pang S, Wang W, Rich B, David R, Chang YT, Carbunaru G, Myers SE, Howie AF,Smillie KJ, Mason JI. A novel nonstop mutation in the stop codon and a novelmissense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD)gene causing, respectively, nonclassic and classic 3beta-HSD deficiencycongenital adrenal hyperplasia. J Clin Endocrinol Metab. 2002 Jun;87(6):2556-63.
  5. Pang S. Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroiddehydrogenase deficiency. Endocrinol Metab Clin North Am. 2001 Mar;30(1):81-99,vi-vii. Review.
  6. Simard J, Moisan AM, Morel Y. Congenital adrenal hyperplasia due to3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency. Semin Reprod Med. 2002 Aug;20(3):255-76. Review.
  7. Takasawa K, Ono M, Hijikata A, Matsubara Y, Katsumata N, Takagi M, Morio T,Ohara O, Kashimada K, Mizutani S. Two novel HSD3B2 missense mutations withdiverse residual enzymatic activities for Δ5-steroids. Clin Endocrinol (Oxf).2014 Jun;80(6):782-9. doi: 10.1111/cen.12394.
  8. Welzel M, Wüstemann N, Simic-Schleicher G, Dörr HG, Schulze E, Shaikh G,Clayton P, Grötzinger J, Holterhus PM, Riepe FG. Carboxyl-terminal mutations in3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenitaladrenal hyperplasia. J Clin Endocrinol Metab. 2008 Apr;93(4):1418-25. doi:10.1210/jc.2007-1874.
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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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