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'''Aromatase Deficiency''' is an [[intersex]] variation in which one has reduced levels of estrogen and increased levels of testosterone. Those with this variation often have [[Ambiguous Genitalia|ambiguous genitals]], are on the [[Agenital|agenital spectrum]], or have a [[Clitoromegaly|enlarged clitoris]].<ref>https://en.wikipedia.org/wiki/Aromatase_deficiency</ref> It is unknown how common this variation is, however approximately 20 cases have been described in the medical literature.<ref>https://medlineplus.gov/genetics/condition/aromatase-deficiency/#frequency</ref> |
'''Aromatase Deficiency''' is an [[intersex]] variation in which one has reduced levels of estrogen and increased levels of testosterone. Those with this variation often have [[Ambiguous Genitalia|ambiguous genitals]], are on the [[Agenital|agenital spectrum]], or have a [[Clitoromegaly|enlarged clitoris]].<ref>{{Archive|Site=web|URL=https://en.wikipedia.org/wiki/Aromatase_deficiency}}</ref> It is unknown how common this variation is, however approximately 20 cases have been described in the medical literature.<ref>{{Archive|Site=web|URL=https://medlineplus.gov/genetics/condition/aromatase-deficiency/#frequency}}</ref> |
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Those with XX chromosomes ([[CTF]]) that have this variation often develop [[PCOS|ovarian cysts]] in early childhood, which causes a lack of production of eggs in the ovaries, which often causes them to have [[AFAB Hypogonadism]]. Because of this, they may have difficulty getting pregnant, or have a sporadic menstrual cycle. This also tends to cause a [[Secondary Sex Agenesis|lack of breast growth]] upon puberty, and excessive body hair. |
Those with XX chromosomes ([[CTF]]) that have this variation often develop [[PCOS|ovarian cysts]] in early childhood, which causes a lack of production of eggs in the ovaries, which often causes them to have [[AFAB Hypogonadism]]. Because of this, they may have difficulty getting pregnant, or have a sporadic menstrual cycle. This also tends to cause a [[Secondary Sex Agenesis|lack of breast growth]] upon puberty, and excessive body hair. |
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== Causes == |
== Causes == |
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The cause of this variation appears to be when there is a mutation in ones ''CYP19A1'' gene (the gene directly connected to an enzyme called aromatase, which controls estrogen and testosterone production.) Usually during fetal development, aromatase converts androgens/estrogens in the placenta, which is the link between the mother's blood supply and the fetus. This conversion in the placenta prevents androgens from directing sexual development in fetuses, which is what causes a long-term effect on the fetus's growth within it's parent.<ref>https://medlineplus.gov/genetics/condition/aromatase-deficiency/#causes</ref> |
The cause of this variation appears to be when there is a mutation in ones ''CYP19A1'' gene (the gene directly connected to an enzyme called aromatase, which controls estrogen and testosterone production.) Usually during fetal development, aromatase converts androgens/estrogens in the placenta, which is the link between the mother's blood supply and the fetus. This conversion in the placenta prevents androgens from directing sexual development in fetuses, which is what causes a long-term effect on the fetus's growth within it's parent.<ref>{{Archive|Site=web|URL=https://medlineplus.gov/genetics/condition/aromatase-deficiency/#causes}}</ref> |
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== References == |
== References == |