Abstract
Abnormalities of sex determination and differentiation comprise two major clinical groups: disorders of gonadal development (i.e., disorders of sex determination: sex reversal, true hermaphroditism), swith secondary effects on genital development, and defects of genital development in the presence of normal gonads (disorders of sex differentiation: male and female pseudohermaphroditism). This chapter will review the embryology of normal sex determination and differentiation, the genetic basis of normal and abnormal sex determination and differentiation, and the approaches to diagnosis of disorders of sex determination and differentiation. © 2006 Humana Press Inc.
Author supplied keywords
- Adrenogenital primordium
- Leydig cell
- Leydig cell hypoplasia
- Müllerian duct syndrome
- Sertoli cell
- androgen insensitivity syndrome
- congenital adrenal hyperplasia
- gonadoblastoma
- granulosa cell
- hermaphroditism
- labioscrotal fold
- mosaicism
- ovary determination
- persistent
- primordial gonad
- pseudohermaphroditism
- sex differentiation
- sex reversal
- testis determination
- theca cell
- urogenital sinus
Cite
CITATION STYLE
Quigley, C. A. (2006). Disorders of sex determination and differentiation. In Principles of Molecular Medicine (pp. 400–445). Humana Press. https://doi.org/10.1007/978-1-59259-963-9_41
Register to see more suggestions
Mendeley helps you to discover research relevant for your work.
