Genetic Steroid Disorders

This PDF book is become immediate popular in Medical genre. Genetic Steroid Disorders is written by famous author Nathalie Josso and Ready to Download in ePUB, PDF or Kindle formats. Released by Elsevier Inc. Chapters in 2013-08-22. Click Download Book button to get book file and read directly from your devices. Here is a quick description and cover image of Genetic Steroid Disorders book.

Genetic Steroid Disorders
Author :
Publisher : Elsevier Inc. Chapters
Release Date :
ISBN : 9780128072967
Pages : 406 pages
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Genetic Steroid Disorders by Nathalie Josso Book PDF Summary

The persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian derivatives in otherwise normally virilized XY individuals. The condition is usually due to a mutation in either the anti-Müllerian hormone (AMH) or the AMH type II receptor (AMHR-II) genes and is transmitted as a recessive autosomal trait. Sixty-five families with AMH mutations and 59 with AMHR-II mutations have been reported to date. Clinical symptoms include cryptorchidism and/or inguinal hernia, and are identical for ligand and receptor mutations. However, the prepubertal serum level of AMH is nearly undetectable in AMH mutations, whereas it is close to normal in receptor mutations. Infertility is the main complication. Construction of molecular models for the AMH and AMHR-II has provided insight into how some mutations affect the biosynthesis and processing of these molecules, and how other mutations affect signal transduction.


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Genetic Steroid Disorders
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Genetic Steroid Disorders PDF book is popular Medical book written by Nathalie Josso,Richard L. Cate,Jean-Yves Picard. The book was released by Elsevier Inc. Chapters in 22 August 2013 with total hardcover pages 406. The persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian derivatives in otherwise normally virilized XY individuals. The condition is usually due to a mutation

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