Diagnosis
Some of the diagnostic tests that are carried out to evaluate Intersex 46,XX are listed below-
- A chromosomal analysis is the best way to evaluate the condition. A simple karyotype, carried out with a small quantity of peripheral blood, will reveal chromosomal abnormalities, both numerical and structural.
- Genetic Testing can be done to identify all the variants of XY females.Five genes are usually studied. They include - SRY (deletion or sequence variant), NR5A1 (SF1) (sequence variant), DHH (sequence variant), NR0B1 (DAX1 duplication), or WNT4 (duplication).
- Biochemical studies to to evaluate electrolyte imbalance
- Hormonal studies - to study the level of various male and female horomones and their functioning.
- Endoscopic exams, Ultrasound studies to look for the uterus.
- MRI may be undertaken to evaluate the presence or absence of gonads in the abdomen. Sometimes a laparoscopy maybe necessary to identify these structures.
