Genetic Steroid Disorders book cover

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.


Adult and pediatric endocrinologists, academic and clinical researchers in endocrinology and clinical genetics, geneticists, genetic counselors, and psychoendocrinologists.

Hardbound, 406 Pages

Published: September 2013

Imprint: Academic Press

ISBN: 978-0-12-416006-4


  • "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


  • Section 1

    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


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