Feminization, testicular E34.5

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Androgen Insensitivity Syndrome; Androgen receptor deficiency; Goldberg-Maxwell-Morris Syndrome; Hairless women

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

Definition
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Lack of masculinization of genetically male individuals due to end organ resistance to testosterone: the external habitus of female individuals is formed ( pseudohermaphroditism masculinus).

Etiopathogenesis
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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.

Manifestation
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From birth.

Clinical features
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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.

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

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

Literature
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  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

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Last updated on: 29.10.2020