Feminization, testicularE34.5
Synonym(s)
Androgen Insensitivity Syndrome; Androgen receptor deficiency; Goldberg-Maxwell-Morris Syndrome; Hairless women
HistoryThis section has been translated automatically.
de Quervain, 1923; Goldberg and Maxwell, 1948; Morris, 1953
DefinitionThis section has been translated automatically.
Lack of masculinization of genetically male individuals due to end organ resistance to testosterone: the external habitus of female individuals is formed ( pseudohermaphroditism masculinus).
EtiopathogenesisThis section has been translated automatically.
X-linked recessive inheritance of defects of the dihydrotestosterone receptor gene (DHTR gene; gene locus: Xq11-q12), which cause the absence or expression of a non-functional receptor for testosterone or dehydroepiandrosterone.
ManifestationThis section has been translated automatically.
From birth.
Clinical featuresThis section has been translated automatically.
Female phenotype: Female external genitals, breast development. Absence of axillary and pubic hair: So called "Hairless-Women". High growth. Blind ending vagina, uterus and ovaries absent, therefore primary amenorrhoea. Testis mostly in the groin, more often inguinal hernias. Female psychosexuality.
LaboratoryThis section has been translated automatically.
For the male sex normal 17-ketosteroids (if testicles are present). Male chromosome set.
TherapyThis section has been translated automatically.
Removal of the testicles (danger of degeneration! see also Maldescensus testis), education to female individuals.
LiteratureThis section has been translated automatically.
- de Quervain F (1923) A case of pseudohermaphrodism masculinus. Swiss med Wschr (Basel) 53: 563
- Goldberg MB, Maxwell AF (1948) Male pseudohermaprhroditism proved by surgical exploration and microscopic examination. A case report with speculations concerning pathogenesis.J Clin Endocrinol (Baltimore) 8: 367-379
- Morris JM (1953) The syndrome of testicular feminisation in male pseudohermaphrodites. On J Obstetr Gynecol (St. Louis) 65: 1192-1211