Genetic Steroid Disorders

Edited by

  • Maria I. New
  • Oksana Lekarev
  • Alan Parsa
  • Tony Yuen, Department of Pediatrics, Mount Sinai Medical Center, New York, NY, USA
  • Bert O'Malley
  • Gary Hammer

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


Book information

  • Published: September 2013
  • 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 patientsā€¦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

Table of Contents

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 Ī± Reductase Deficiency

  Jean Wilson

B. Androgen Resistance

  Charles Sultan

5. Chapter 5 a-b



  Saroj Nimkam


  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