Genetic Steroid Disorders

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. It will assist these specialists in the diagnosis and treatment of steroid disorders. 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 disordersIncludes the very latest details on genetic tests and diagnosesOffers a strong understanding of the molecular basis for the diseases and therefore correct diagnosis and treatment of steroid disorders Presents insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting

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 Dehyrdrogenase Deficiency / Yves Morel D. 17-Hydroxylase Deficiency and 17-20 Lyase Deficiency / Richard Auchus E. P450 Oxidoreductase Deficiency / Christa Flueck F. StAR Protein Abnormalities / Walter Miller G. Aromatase Deficiency / Melvin Grumbach H. 17-Hydroxysteroid Dehyrdrogenase Deficiency / Berenice Mendonca 4. Chapter 4 a- b A. 5 α Reductase Deficiency / Jean Wilson B. Androgen Resistance / Charles Sultan 5. Chapter 5 a-b A. AME / Saroj Nimkam B. DSH / Robert Dluhy 6. Ovotesticular DSD  / Eric Vilain 7. Chapter 7 a-b / A. Mixed Gonadal Dysgenesis and Turners Syndrome / Paul Saenger B. Persistent Oviduct Syndrome / Nathalie Josso 8. Surgical repair of Ambiguous Genitalia / Dix Poppas and Richard Rink 9. Psychoendocrinology / Heino Meyer-Bahlburg 10. Nuclear Steroid Hormone Receptors / Bert O'Malley 11. Adrenal Tumors- Genetics / Gary Hammer 12. Pre-implantation Genetics / Joe Leigh Simpson Special Features A. Animal models of adrenal genetic disorders / Felix Beuschlein B. Reproductive Endocrinology of Genetic Steroid Disorders / Zev Rosenwaks C. Geographical Endocrinology of Genetic Steroid Disorders / Ursula Kuhnle D. Treatment of Cah patients w/ GH to improve height / Karen Su E. Debates and Controversies in Genetic Steroid Disorders / Phyllis Speiser F. Case Reports of Unsolved Mysteries of Steroid Disorders / Svetlana Ten and Amrit Banghoo G. Marsupial Pathway in Humans / Anna Lauber and Christa Flueck I. Pituitary Genetic Factors in Cushings / Shlomo Melmed and Alan Parsa