46 XY gonadal dysgenesis

Question 1

What is the pathology is 46 XY gonadal dysgenesis?

Answer 1

1. Mutation of the SRY gene on the Y chromosome
2. thus despite having XY chromosomes, gonads do that develop into testes
3. Absence of anti mullerian hormone means that fallopian tubes and uterus still develop
4. Baby is phenotypically female despite being genetically male (XY)

Question 2

When do children with 46 XY gonadal dysgenesis present?

Answer 2

Present at adolescence with delayed puberty as gonads do not function