HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Male pseudohermaphroditism: genetics and clinical delineation.

Abstract
The genetics and clinical delineation of male pseudohermaphroditism are reviewed. These disorders are categorized initially by their genetic etiology--cytogenetic, Mendelian, or teratogenic. It is especially important to distinguish cytogenetic forms, usually associated with 45,X/46,XY mosaicism, from Mendelian (genetic) forms because in the former the prevalence of gonadoblastomas or dysgerminomas is about 15--20%. Genetic forms include (1) those associated with a multiple malformation pattern, (2) those due to an error in adrenal or testicular hormonal biosynthesis, (3) complete testicular feminization, (4) incomplete testicular feminization, (5) Reifenstein syndrome, (6) pseudovaginal perineoscrotal hypospadias, and (7) agondia, and possibly other conditions. Incomplete testicular feminization and the Reifenstein syndrome may or may not represent varied expressivity of the same trait. The designation pseudovaginal perineoscrotal hypospadias is appropriate only if constellations of clinical features are present and if no metabolic abnormalities are demonstrable. Etiology and available genetic data are reviewed for each of these disorders.
AuthorsJ L Simpson
JournalHuman genetics (Hum Genet) Vol. 44 Issue 1 Pg. 1-49 (Oct 19 1978) ISSN: 0340-6717 [Print] Germany
PMID711236 (Publication Type: Journal Article)
Chemical References
  • Teratogens
  • Steroid Hydroxylases
Topics
  • Abnormalities, Multiple (genetics)
  • Androgen-Insensitivity Syndrome (genetics)
  • Disorders of Sex Development (classification, diagnosis, genetics)
  • Humans
  • Hypospadias (genetics)
  • Male
  • Metabolism, Inborn Errors (genetics)
  • Mosaicism
  • Penis (abnormalities)
  • Phenotype
  • Sex Chromosome Aberrations (classification)
  • Steroid Hydroxylases (deficiency)
  • Teratogens (pharmacology)
  • Turner Syndrome (genetics)
  • Y Chromosome

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: