Congenital syndromes causing infertility

Question 1

What is the genetic defect in Turner syndrome?

Answer 1

Female missing an X chromosome

Question 2

What syndrome has:
Short webbed neck
Low set ears
Low hairline at back of neck
Short stature
Swollen hands or feet at birth

Answer 2

Turner syndrome

Question 3

What endocrine problem to people with Turner syndrome have?

Answer 3

Don’t develop menstrual period or breasts
Can’t have children without reproductive technology

Question 4

Do most people with Turner syndrome have intellectual disability?

Answer 4

No, most have normal intelligence

Question 5

How to differentiate primary amenorrhoea/lack of puberty between Kallmann and Turner?

Answer 5

Turner will have high FSH/LH (hypergonadotrophic hypogonadism)
Kallmann will have low FSH/LH (hypothalamic/hypogonadotrophic hypogonadism)

Question 6

What are the features of Kallmann syndrome?

Answer 6

Anosmia
Failure to start puberty

Question 7

What is the defect in Kallmann syndrome?

Answer 7

Disruption in production or activity of GnRH

Question 8

What is the genetic defect in Klinefelter syndrome?

Answer 8

XXY

Question 9

What are the features of Klinefelter syndrome?

Answer 9

Infertility
Small, poorly functioning testicles
Often only noticed at puberty

Other rarer associations:
weaker muscles, greater height, poor coordination, less body hair, breast growth, and low libido

Question 10

What will the FSH, LH and testosterone levels be in Klinefelter syndrome?

Answer 10

High FSH and LH
Low testosterone
(Hypergonadotrophic hypogonadism)