Skip to Main Content
  • Become an Access Reviewer
  • Clinical Phenotypes
  • OMMBID Advisory banner
  • Ommbid banner
  • Ommbid latest banner

Abstract

Abstract 

  1. Male differentiation in humans is determined by the testis-determining gene, SRY, which is located on the short arm of the Y chromosome adjacent to the pseudoautosomal region.

  2. Cytogenetic studies of infertile males have revealed rare individuals with an apparently normal 46,XX karyotype. The majority of these sex-reversed XX males have inherited a small fragment of the Y chromosome, which includes SRY, transferred to the short arm of one of their X chromosomes.

  3. SRY mutations are found in 15 percent of XY females with pure gonadal dysgenesis.

  4. SRY induces the differentiation of Sertoli cells in the developing gonad. Sertoli cells produce anti-Mullerian hormone, which causes regression of the female internal genitalia; they also induce Leydig cells to secrete the androgens necessary for the development of male internal and external genitalia. Any genetic or environmental factor that prevents testis differentiation in 46,XY embryos leads to the development of a sex-reversed XY female.

  5. This chapter reviews the role of SRY in primary sex-reversal syndromes.

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

OMMBID Full Site: One-Year Subscription

Connect to the full suite of OMMBID content including new and revised chapters that reflect the latest research, image galleries, clinical phenotypes, and more.

$295 USD
Buy Now

Pay Per View: Timed Access to all of OMMBID

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.