encyclopedia of medical concepts
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46, XX Disorders of Sex Development
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Definition
: Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical.
Examples
46, XX Testicular Disorders of Sex Development
;
Gonadal Dysgenesis, 46,XX
;
Hyperandrogenism
Other names
Pseudohermaphroditisms, Female; Pseudohermaphroditism, Female; Female Pseudohermaphroditisms; Female Pseudohermaphroditism; 46,XX Disorders of Sex Development; 46,XX DSD; 46, XX DSD
Substance
CAS Registry & name
Categories
Source
Michels Caskey syndrome
0
*Abnormalities, Multiple
*Hand Deformities, Congenital
*46, XX Disorders of Sex Development
Mullerian Ducts/abnormalities.
Aromatase deficiency
0
*Gynecomastia
*Infertility, Male
*Metabolism, Inborn Errors
*46, XX Disorders of Sex Development
Aromatase/deficiency.
Mullerian aplasia
0
*Congenital Abnormalities
*46, XX Disorders of Sex Development
Mullerian Ducts/abnormalities.
Cortisone reductase deficiency
0
*Hirsutism/congenital
*Steroid Metabolism, Inborn Errors
*46, XX Disorders of Sex Development
11-beta-Hydroxysteroid Dehydrogenases/deficiency.
Rokitansky Kuster Hauser syndrome
0
*Abnormalities, Multiple
*46, XX Disorders of Sex Development
Uterus/abnormalities
Vagina/abnormalities.
