☆MC cause of ambiguous sex in female - CAH
☆Autosomal recessive
Pathology :-
• Decrease cortisol, aldosterone.
• Deficiency of 21 hydroxylase
• Increased levels of 12 OH progesterone - Virilization
Physical characteristics :-
• Mullerial duct is developed properly so normal internal genetilia in females
• 46 XX
• Uterus and vagina present but fail to menstruate
• Clitoromegaly
• Fused labia majora labia minora
• Voice deepens by the age of 2 - 4 (heterosexual precocious puberty)
• Hyponatremia hypokalemia hypotension
Diagnosis :-
• 17 hydroxy progesterone >800 ng/dl
☆Autosomal recessive
Pathology :-
• Decrease cortisol, aldosterone.
• Deficiency of 21 hydroxylase
• Increased levels of 12 OH progesterone - Virilization
 |
| Types |
Physical characteristics :-
• Mullerial duct is developed properly so normal internal genetilia in females
• 46 XX
• Uterus and vagina present but fail to menstruate
• Clitoromegaly
• Fused labia majora labia minora
• Voice deepens by the age of 2 - 4 (heterosexual precocious puberty)
• Hyponatremia hypokalemia hypotension
Diagnosis :-
• 17 hydroxy progesterone >800 ng/dl
• 17 hydroxy progesterone <200 ng/dl rules out the diagnosis
• Salt wasting
• Salt wasting
No comments:
Post a Comment