In this chapter the genetic steroid disorders will be explored with respect to their effects on human reproduction the mechanisms whereby fertility is limited or precluded will be described and existing as well as emerging therapies for genetic steroid enzyme deficiencies outlined. This is a comprehensive book addressing steroid disorders from hormonal genetic psychological and surgical perspectives it is meant to educate adult and pediatric endocrinologists clinical geneticists genetic counselors reproductive endocrinologists neonatologists urologists and psychoendocrinologists. The book is written for postgraduate and faculty level physicians the content consists of steroid disorders genetic bases for the disorder and case presentations of each disorder provides a common language for professionals to discuss and diagnose genetic steroid disorders includes the very latest details on genetic tests and diagnoses. Genetic steroid disorders by maria i new md 9780124160064 1 introduction maria i new 2 adrenal development gary hammer and john achermann 3 chapter 3 a h a cah owing to 21 hydroxylase deficiency maria i new oksana lekarev and alan parsa b 11 beta hydroxylase deficiency perrin white c 3 beta hydroxysteroid . 1 introduction maria i new department of pediatric endocrinology mount sinai school of medicine new york ny usa abstract this book demonstrates that each steroid disorder causing both clinical and biochemical abnormalities in patients now has a genetic basis
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