Feminization, testicular E34.5

de Quervain, 1923; Goldberg and Maxwell, 1948; Morris, 1953

Failure of genetically male individuals to develop male characteristics due to target organ resistance to testosterone: This results in individuals with a female physical appearance ( pseudohermaphroditism of the male type).

X-linked recessive inheritance of defects in the dihydrotestosterone receptor gene (DHTR gene; gene locus: Xq11-q12), which result in the absence or expression of a non-functional receptor for testosterone or dehydroepiandrosterone.

From birth.

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.

For the male sex normal 17-ketosteroids (if testicles are present). Male chromosome set.

Removal of the testicles (danger of degeneration! see also Maldescensus testis), education to female individuals.

1. de Quervain F (1923) A case of pseudohermaphrodism masculinus. Swiss med Wschr (Basel) 53: 563
2. 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
3. Morris JM (1953) The syndrome of testicular feminisation in male pseudohermaphrodites. On J Obstetr Gynecol (St. Louis) 65: 1192-1211