Sandbox Reserved 382: Difference between revisions
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Aromatase Dificiency is rare in humans, however, if aromatase is nonfunctional due to a mutation estrogen synthesis cannot occur. Affected females are diagnoses at birth because of the obvious characteristics of pseudohermaphroditism. During the childhood of these girls, delayed bone maturation can occur along with cystic ovaries. However, affected males are diagnosed later in life because there are not obvious birth defects. Clincal symptoms such as a tall physique, delayed bone maturation and epiphyseal closure, bone pain, and excess adiposy. <ref> Jones, M., Boon, W., McInnes, K. "Recognizing Rare Disorders: Aromatase Deficiency". [http://www.ncbi.nlm.nih.gov/pubmed/17452968] </ref> | Aromatase Dificiency is rare in humans, however, if aromatase is nonfunctional due to a mutation estrogen synthesis cannot occur. Affected females are diagnoses at birth because of the obvious characteristics of pseudohermaphroditism. During the childhood of these girls, delayed bone maturation can occur along with cystic ovaries. However, affected males are diagnosed later in life because there are not obvious birth defects. Clincal symptoms such as a tall physique, delayed bone maturation and epiphyseal closure, bone pain, and excess adiposy. <ref> Jones, M., Boon, W., McInnes, K. "Recognizing Rare Disorders: Aromatase Deficiency". [http://www.ncbi.nlm.nih.gov/pubmed/17452968] </ref> | ||
*'''Aromatase Excess Syndrome''' | *'''Aromatase Excess Syndrome''' | ||
Research shows a rare disorder caused by excessive aromatase activity that can cause familial gynecomastia and feminization of both sexes. This can be inherited by an autosomal dominant manner, affected females and males differently. Females with this disorder showed signs of isosexual precocity and/or macromastia. Males showed characteristics of heterosexual precocity and/or gynecomastia. | Research shows a rare disorder caused by excessive aromatase activity that can cause familial gynecomastia and feminization of both sexes. This can be inherited by an autosomal dominant manner, affected females and males differently. Females with this disorder showed signs of isosexual precocity and/or macromastia. Males showed characteristics of heterosexual precocity and/or gynecomastia. <ref> Stratakis, C., Vottero, A. "The Aromatase Excess Syndrome is Associated with Feminization of Bost Sexes and Autosomal Dominant Transmission of Aberrant p450 Aromatase Gene Transcription. [http://www.ncbi.nlm.nih.gov/pubmed/9543166] <ref/> | ||
== References == | == References == | ||
<references/> | <references/> | ||
