Reference no: EM133450825

Case Study: As a reproductive endocrinologist you are working with the following family and you and your staff collected a blood sample from each of the women at 5pm today.

Mom, Cindy is 55 years of age. She entered menopause 2 years ago. She has put on some weight over the past year but her BMI of 24 still puts her in the normal range. Cindy and her daughter Elaine had lunch today at noon and both consumed a Cesar salad.

Daughter, Abigail is 25 years old and is obese with a BMI of 33. She consumed a 2000 calorie lunch today at noon at a local fast food restaurant.

Daughter, Elaine is 19 years of age, and she has had a normal and regular ovulatory cycle for the past 5 years. Her body mass index is 21.

Daughter, Hillary is 17 years old. She is an Olympic gymnast who has never ovulated. She is short in stature for her age and has a very low body fat mass. She is currently training every day for the US National Gymnastics Championships. Because she was busy training she has not had time to eat today so her last meal was 20 hours ago.

Daughter, Susan is 21 years of age and she has undiagnosed genetic mutation. She lacks normal secondary sex characteristics and has never ovulated. LH and FSH levels are not detectable. Kisspeptin is produced and a genetic analysis that you ordered indicates that Kisspeptin is not mutated. Her BMI and percent body fat are normal.

Daughter, Veronica is 13.5 years of age. She has a normal BMI. She was born with the phenotype of a female, but now that puberty has commenced her voice has deepened, she is developing facial hair, her clitoris is enlarging and becoming a penis and her labia major are fusing and becoming a scrotum.

Questions:

1. Compare and contrast daily bone deposition potential (so ignore food intake over the past 24 hours) between Cindy, Elaine and Hillary (explain your answer)

2. From the information given, it is clear that Veronica has a congenital genetic mutation that has rendered one of her proteins (remember proteins can be receptors, protein hormones, enzymes, etc) nonfunctional. What protein is mutated (explain your answer)

3. Based on the information taught in class, there are 3 potential mutated proteins that could easily explain Susan's clinical observations. Please identify these 3 potential mutations and then explain a hormone therapy that could be given to help determine which of the 3 potential mutations that Susan is suffering from (please explain your reasoning)