lecture7 - insensitivity syndrome Congenital Adrenal...

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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
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Unformatted text preview: insensitivity syndrome: Congenital Adrenal Hyperplasia enzyme 21OH missing Pregnenolone Progesterone 17-OH Pro .. Androsteno-dione Testosterone Androsteno-dio l Dehydro… 17-Preg …. Cortiso…l Corticosterone Estradio l Estrone 11-Deoxy .. Deoxy…. Aldosterone 17-OH Cort Cholesterol Missing 11-OH Aromatase Aromatase Missing 11-OH 3B-HSO 3B-HSO 3B-HSO 3B-HSO CYP-17 CYP-17 CYP-17 Lyase Lyase 17B-HSO 17B-HSO Gradations of masculanization 5 alpha reductase deficiency 5 alpha-reductase deficiency Dr. Julianne Imperato-McGinley Study of 5 alpha-reductase deficiency in 38 individuals with the trait in the Dominican Republic Guevedoces – “penis at 12 years old” XY (or gonadal) dysgenesis TDF TDF...
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This note was uploaded on 04/24/2011 for the course BIO 388n taught by Professor Shank during the Spring '11 term at California State University Los Angeles .

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lecture7 - insensitivity syndrome Congenital Adrenal...

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