Genetic Disorders of Human Sexual Development / Edition 1

Hardcover (Print)
Buy New
Buy New from
Used and New from Other Sellers
Used and New from Other Sellers
from $56.26
Usually ships in 1-2 business days
(Save 46%)
Other sellers (Hardcover)
  • All (9) from $56.26   
  • New (7) from $56.26   
  • Used (2) from $99.35   


Authoritative clinical reference on genetic sexual disorders, a field that has been transformed in many areas by molecular genetics.

"...a uniquely valuable reference offering fully-referenced information about the genetic aspects of human sexual maldevelopment...presents alternatives, highlights specula- tion, raises questions & attempts to answer them, & more."

Read More Show Less

Editorial Reviews

New England Journal of Medicine
...well written, up to date, thorough, and logically organized....[A] valuable reference that should interest every pediatrician, endocrinologist, urologist, andrologist, gynecologist, and geneticist who deals with disorders of the reproductive system.
Read More Show Less

Product Details

  • ISBN-13: 9780195109078
  • Publisher: Oxford University Press, USA
  • Publication date: 1/28/1999
  • Series: Oxford Monographs on Medical Genetics Series, #38
  • Edition description: New Edition
  • Edition number: 1
  • Pages: 432
  • Product dimensions: 6.90 (w) x 10.20 (h) x 1.30 (d)

Meet the Author

McGill University

University of Arizona Health Science Center

University of Kansas Medical Center

Read More Show Less

Table of Contents

I Normal Gonadal and Sexual Development
1 The Embryology of Normal Gonadal and Genital Development 3
2 Sex Chromosome and Autosome Contributions to Normal Gonadal Development 11
3 Introductory Biochemistry and Endocrinology of Sexual Development 39
II Clinical Approach
4 The Clinical Approach to Genetic Abnormalities of Gonadal and Sexual Development 51
III Gonadal Maldevelopment
5 Y Chromosome Aberrations 61
6 X Chromosome Aberrations 73
7 Autosomal Disorders 104
8 Absence of the Gonads 124
IV Sexual Maldevelopment
9 Genetic Disorders of the Anti-Mullerian Hormone AMH and its Receptor 131
10 Genetic Disorders Expressed by Gonadotropin Insufficiency 136
11 Genetic Disorders of Gonadotropin Action 154
12 Genetic Disorders Expressed as Gonadotropin Excess 180
13 Genetic Disorders of Steroidogenesis 192
14 Genetic Disorders of Sex Hormone Sensitivity 241
15 Syndromes with Sexual Maldevelopment 258
16 Non-Syndromal Abnormalities of Sexual Development in Males and Females 321
17 Systemic Disorders of Sexual Development with Gonadal Dysfunction 343
18 Autosomal Aneusomy and Sexual Maldevelopment 355
V Genetic Forms of Gamete Failure
19 Genetic Disorders of Gamete Delivery 377
20 Autosomal Genomic and Chromosomal Disorders with Meiotic Abnormalities Causing Impaired Gametogenesis 383
21 Mouse Models of Infertility 386
App Selected Features of Various Genetic and Other Disorders of Human Sexual Development and the Chapters in Which They Are Discussed 393
Index 399
Read More Show Less

Customer Reviews

Be the first to write a review
( 0 )
Rating Distribution

5 Star


4 Star


3 Star


2 Star


1 Star


Your Rating:

Your Name: Create a Pen Name or

Barnes & Review Rules

Our reader reviews allow you to share your comments on titles you liked, or didn't, with others. By submitting an online review, you are representing to Barnes & that all information contained in your review is original and accurate in all respects, and that the submission of such content by you and the posting of such content by Barnes & does not and will not violate the rights of any third party. Please follow the rules below to help ensure that your review can be posted.

Reviews by Our Customers Under the Age of 13

We highly value and respect everyone's opinion concerning the titles we offer. However, we cannot allow persons under the age of 13 to have accounts at or to post customer reviews. Please see our Terms of Use for more details.

What to exclude from your review:

Please do not write about reviews, commentary, or information posted on the product page. If you see any errors in the information on the product page, please send us an email.

Reviews should not contain any of the following:

  • - HTML tags, profanity, obscenities, vulgarities, or comments that defame anyone
  • - Time-sensitive information such as tour dates, signings, lectures, etc.
  • - Single-word reviews. Other people will read your review to discover why you liked or didn't like the title. Be descriptive.
  • - Comments focusing on the author or that may ruin the ending for others
  • - Phone numbers, addresses, URLs
  • - Pricing and availability information or alternative ordering information
  • - Advertisements or commercial solicitation


  • - By submitting a review, you grant to Barnes & and its sublicensees the royalty-free, perpetual, irrevocable right and license to use the review in accordance with the Barnes & Terms of Use.
  • - Barnes & reserves the right not to post any review -- particularly those that do not follow the terms and conditions of these Rules. Barnes & also reserves the right to remove any review at any time without notice.
  • - See Terms of Use for other conditions and disclaimers.
Search for Products You'd Like to Recommend

Recommend other products that relate to your review. Just search for them below and share!

Create a Pen Name

Your Pen Name is your unique identity on It will appear on the reviews you write and other website activities. Your Pen Name cannot be edited, changed or deleted once submitted.

Your Pen Name can be any combination of alphanumeric characters (plus - and _), and must be at least two characters long.

Continue Anonymously

    If you find inappropriate content, please report it to Barnes & Noble
    Why is this product inappropriate?
    Comments (optional)