Clinical Genetics - General = Endocrine Genetics (TRANSFERRED)

Question 1

Reference: Genetics residents in-training examination - March 2020 (Spring 2020)

Name 5 genes or genetic conditions associated with primary ovarian insufficiency.

Answer 1

See Table.

Rossetti R., Ferrari I., Bonomi M., Persani L. Genetics of primary ovarian insufficiency. Clin Genet 2017: 91: 183–198.

Question 2

Reference: Genetics residents in-training examination - March 2020 (Spring 2020)

Explain sex reversal and give 3 possible explanations for XY women.

Answer 2

Discordance between chromosomal sex and phenotypic sex.

Der(Y)t(X;Y) translocation, SRY deletion/mutation, NR0B1 (DAX1) duplication, AR gene mutation