Aromatase Deficiency (AROD)

Aromatase Deficiency(来自ICD-11)
别称:
Congenital Estrogen Deficiency
Placental Aromatase Deficiency
46,xx Disorder of Sex Development Due to Placental Aromatase Deficiency
Pseudohermaphroditism, Female, Due to Placental Aromatase Deficiency
Pseudohermaphroditism Female Due to Placental Aromatase Deficiency
Oestrogen Synthetase Deficiency
Estrogen Synthetase Deficiency
Arod
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Aromatase Deficiency, also known as congenital estrogen deficiency, is related to lipoid congenital adrenal hyperplasia and acne. An important gene associated with Aromatase Deficiency is CYP19A1 (Cytochrome P450 Family 19 Subfamily A Member 1). Affiliated tissues include bone and breast, and related phenotypes are osteopenia and delayed skeletal maturation
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参考文献
MALACARDS
AR
All ages
<1/1000000
2
47
25

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