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INTERSEXED: Neither completely male or completely female
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Turner Syndrome – 45X
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Kleinfelter Syndrome 47XXY
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Trisomy X – 47XXX Some females with triple X have no signs or symptoms. But others may have: Tall stature Small head Vertical skin folds that may cover the inner corners of the eyes (epicanthal folds) Delayed development of certain motor skills, speech and language Learning disabilities such as dyslexia Infertility
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Jacob syndrome - XYY
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True hermaphrodite
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True Hermaphrodites have: -Ovarian tissue and Testicular tissue -Genotype XX or XY or XX/XY mosaic - Usually uterus and menstruation
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Pseudohermaphrodites: Androgen Insensitivity Syndrome Congenital Adrenal Hyperplasia – CAH 5 alpha reductase deficiency
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Androgen insensitivity syndrome:
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Congenital Adrenal Hyperplasia enzyme 21OH missing Pregnenolone Progesterone 17-OH Pro.. Androsteno- dione Testosterone Androsteno- dio l Dehydro… 17-Preg …. Cortiso…l Corticosterone EstradiolEstrone 11-Deoxy.. Deoxy…. Aldosterone 17-OH Cort Cholesterol Missing 11-OH Aromatase Missing 11-OH 3B-HSO CYP-17 Lyase 17B-HSO
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Gradations of masculanization
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5 alpha reductase deficiency
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5 alpha-reductase deficiency Dr. Julianne Imperato-McGinley Study of 5 alpha-reductase deficiency in 38 individuals with the trait in the Dominican Republic
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Guevedoces – “penis at 12 years old”
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XY (or gonadal) dysgenesis
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TDF
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