1.4 Reproductive and Endocrine Genetics

Question 1

What are the two hormones that ensure male development>?

Answer 1

Testosterone and Anti mullerian hormone

Question 2

What is androgen insensitivity

Answer 2

Produce hormones but the receptor is insensitive to it

Question 3

What role to SRY play in sertoli cells?

Answer 3

Migration of cells to adjacent mesonephros

Formation of male specific vasculature

Question 4

What happens with inactivating mutations in SRY and what is the example in humans?

Answer 4

XY females with gonadal dysgenesis

Sawyer syndrome

Question 5

What happens in androgen insensitivity syndrome?

Answer 5

Genetically male, phenotypically female

Receptor is unresponsive to testosterone leading to female genitalia with internal testis

Question 6

What happens in graves disease?

Answer 6

T cells undergo a Th2 differentiation and activate B cells to produce TSHR antibodies which stimulates the thyroid and causes clinical hyperthyroidism

Question 7

What happens in Hashimotos disease?

Answer 7

Th1 switches off the thyroid infiltrating T cells which induces apoptosis of thyroid follicular cells and clinical hypothyroidism