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INTERSEXED: Neither completely male or completely female

INTERSEXED: Neither completely male or completely female. Turner Syndrome – 45X. Kleinfelter Syndrome 47XXY. Trisomy X – 47XXX. Some females with triple X have no signs or symptoms. But others may have: Tall stature Small head

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INTERSEXED: Neither completely male or completely female

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  1. INTERSEXED:Neither completely male or completely female

  2. Turner Syndrome – 45X

  3. Kleinfelter Syndrome 47XXY

  4. 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

  5. Jacob syndrome - XYY

  6. True hermaphrodite

  7. True Hermaphrodites have: - Ovarian tissue and Testicular tissue • Genotype XX or XY or XX/XY mosaic - Usually uterus and menstruation

  8. Pseudohermaphrodites: • Androgen Insensitivity Syndrome • Congenital Adrenal Hyperplasia – CAH • 5 alpha reductase deficiency

  9. Androgen insensitivity syndrome:

  10. Congenital Adrenal Hyperplasia enzyme 21OH missing Cholesterol CYP-17 17B-HSO Lyase Pregnenolone 17-Preg…. Dehydro… Androsteno- diol 3B-HSO 3B-HSO 3B-HSO 3B-HSO 17B-HSO Lyase CYP-17 Progesterone 17-OH Pro.. Androsteno- dione Testosterone Missing Missing Aromatase Aromatase CYP-17 Deoxy…. 11-Deoxy.. Estrone Estradiol 11-OH 11-OH Corticosterone Cortiso…l 17-OH Cort Aldosterone

  11. Gradations of masculanization

  12. 5 alpha reductase deficiency

  13. 5 alpha-reductase deficiency Dr. Julianne Imperato-McGinley Study of 5 alpha-reductase deficiency in 38 individuals with the trait in the Dominican Republic

  14. Guevedoces – “penis at 12 years old”

  15. XY (or gonadal) dysgenesis

  16. TDF

  17. TDF

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