Post on 22-Dec-2015
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
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
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
5 alpha-reductase deficiency
Dr. Julianne Imperato-McGinley
Study of 5 alpha-reductase deficiency in 38 individuals with the trait in the Dominican Republic