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Genetic Steroid Disorders
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.
The Intersex Child
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The Genetics and Biology of Sex Determination
Nature employs a wide variety of sex determining mechanisms and it is only comparatively recently that the tools have become available for these to be explored at the cellular and molecular levels. A major landmark was the discovery in 1990 of the SRY gene and the subsequent demonstration of its key role in triggering male sex determination in transgenic mice. This book reviews and discusses our current understanding of the molecular genetic pathways of sex determination, with special emphasis on vertebrates. It features comparisons with other modes of sex determination, consideration of the biology of sexual development and discussion of the evolution of sex-determining mechanisms. By bringing together an international and interdisciplinary group of experts who study many different aspects of the problem, the book highlights much new and exciting work in this area and serves to identify and stimulate promising new research directions.
Reproduction
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