Endocrinology Book

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Female Pseudohermaphroditism

Aka: Female Pseudohermaphroditism
  1. Causes
    1. Deficiencies of enzyme activity
      1. 3B Hydroxysteroid dehydrogenase - Type 2
        1. Chromosome: 1p13.1
      2. 21-Hydroxylase
        1. Chromosome: 6p21.3
      3. 11B-Hydroxylase - Type 1
        1. Chromosome 8q21
    2. Deficiencies of placental or germ-line aromatase
    3. Maternal Androgen Excess
      1. Virilizing luteoma
      2. Congenital Adrenal Hyperplasia
      3. Ingestion of androgens, synthetic Estrogens
    4. Eponymic Syndromes
      1. Fraser syndrome
      2. VACTERL association
  2. Signs
    1. Internal genitalia are female
    2. External genitalia are masculinized

Female Pseudohermaphroditism (C0238394)

Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D058489
ICD10 Q56.2
SnomedCT 8800006
Dutch vrouwelijk pseudohermafroditisme, pseudohermafroditisme; bij vrouw, pseudohermafroditisme vrouwelijk
German weiblicher Pseudohermaphroditismus, Pseudohermaphroditismus femininus, Weiblicher Pseudohermaphroditismus, Pseudohermaphroditismus der Frau
English Female Pseudohermaphroditism, female pseudohermaphroditism, female pseudohermaphroditism (diagnosis), Pseudohermaphroditism female, Female pseudohermaphroditism NOS, Pseudohermaphroditisms, Female, Female Pseudohermaphroditisms, Pseudohermaphroditism, Female, ferm, Female pseudohermaphroditism, Ferms, Female pseudohermaphroditism (disorder), pseudohermaphroditism; female
Japanese 女性仮性半陰陽, ジョセイカセイハンインヨウ
Czech Ženský pseudohermafroditismus, ženský pseudohermafroditismus
French Pseudohermaphrodisme féminin, Pseudo-hermaphrodisme féminin, Pseudo-hermaphrodisme femelle
Italian Femmina XX con virilizzazione o mascolinizzazione, Pseudoermafroditismo femminile
Hungarian Női pseudohermaphroditismus, Női álkétneműség
Norwegian Kvinnelig pseudohermafrodittisme
Spanish ferms, pseudohermafroditismo femenino (trastorno), pseudohermafroditismo femenino, Pseudohermafroditismo femenino
Portuguese Pseudo-hermafroditismo feminino
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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