intersexed: neither completely male or completely female

23
INTERSEXED: Neither completely male or completely female

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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 • 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

Jacob syndrome - XYY

True hermaphrodite

True Hermaphrodites have:

- Ovarian tissue and

Testicular tissue- Genotype XX or XY or XX/XY mosaic

- Usually uterus and menstruation

Pseudohermaphrodites:

• Androgen Insensitivity Syndrome

• Congenital Adrenal Hyperplasia – CAH

• 5 alpha reductase deficiency

Androgen insensitivity syndrome:

Congenital Adrenal Hyperplasia enzyme 21OH missing

Pregnenolone

Progesterone 17-OH Pro..Androsteno-

dioneTestosterone

Androsteno-diolDehydro…17-Preg….

Cortiso…lCorticosterone

EstradiolEstrone11-Deoxy..Deoxy….

Aldosterone

17-OH Cort

Cholesterol

Missing

11-OH

Aromatase AromataseMissing

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