Genetic Steroid Disorders

An in-depth look at steroid disorders from hormonal, genetic, psychological, and surgical perspectives

Maria I. New (Edited by), Oksana Lekarev (Edited by), Alan Parsa (Edited by), Tony T. Yuen (Edited by), Bert O'Malley (Edited by), Gary D. Hammer (Edited by)

9780124160064, Elsevier Science

Hardback, published 31 October 2013

406 pages
27.6 x 21.6 x 2.7 cm, 1.37 kg

"Appropriate for both novice and experienced researchers, this collection demonstrates that the genetic basis has been located for each steroid disorder causing clinical and bioclinical abnormalities in patients. Ten of the 31 chapters describe the symptoms, cause, diagnosis, and treatment of the many disorders resulting from congenital adrenal hyperplasia…the definitive treatise belongs in every medical library."--ProtoView.com, February 2014 "Appropriate for both novice and experienced researchers, this collection demonstrates that the genetic basis has been located for each steroid disorder causing clinical and bioclinical abnormalities in patients…Edited by a professor of pediatric endocrinology at Mount Sinai Hospital, the definitive treatise belongs in every medical library."--Reference & Research Book News, December 2013

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.

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 a 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

Subject Areas: Endocrinology [MJG], Hereditary diseases & disorders [MJCG1], Medical genetics [MFN]