Alterations of sex differentiation in males

From candidate genes to diagnosis and treatments

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Sex, that is, whether one is physically male or female, is the basic dichotomy of life. Sex is important not only for reproductive role, but also for physical attributes, personal identity and disease susceptibility. Sex determination is genetically controlled, with the key event in males being the transmission of a Y chromosome from father to offspring. The sex-determining gene on the Y chromosome, SRY, triggers the expression of a repertoire of other genes that cause the undifferentiated gonad to develop as a testis. Hormones secreted by the developing testis cause the internal and external genitalia to masculinize. Testicular development is disrupted by de novo or inherited genetic alterations leading to gonadal dysgenesis. Decreased hormone production from dysgenetic testes disrupts the normal development of the internal and external genitalia. Incomplete masculinization of the genitalia also occurs from hormonal biosynthetic defects or decreased response to hormones from inherited receptor defects. Treatment is tailored to the individual diagnosis and may include removal of dysgenetic gonads, surgical correction of incompletely masculinized genitalia, replacement of deficient hormones, and, in some instances, gender reassignment.

Original languageEnglish (US)
Pages (from-to)501-511
Number of pages11
JournalCurrent Pharmaceutical Design
Volume10
Issue number5
DOIs
StatePublished - 2004
Externally publishedYes

Fingerprint

Sex Differentiation
Genitalia
Hormones
Testis
Gonads
Genes
Y-Linked Genes
Gonadal Dysgenesis
Y Chromosome
Disease Susceptibility
Therapeutics
Fathers

Keywords

  • Sex determination
  • Sex reversal
  • Sexual differentiation
  • Testes

ASJC Scopus subject areas

  • Molecular Medicine
  • Pharmacology, Toxicology and Pharmaceutics(all)

Cite this

Alterations of sex differentiation in males : From candidate genes to diagnosis and treatments. / Ostrer, Harry.

In: Current Pharmaceutical Design, Vol. 10, No. 5, 2004, p. 501-511.

Research output: Contribution to journalArticle

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