infertility

Question 1

Why do male patients with CF have azoospermia?

Answer 1

congenital absence of vas deferens (thick secretions obstruct fetal vas deferens and it obstructs) - sperm can be extracted from the epididymus

Question 2

What kind of ovarian failure is PCOS?

Answer 2

Type II (hypothalmic -pituitary-ovarian failure)

Question 3

What is the first line treatment for type II ovarian failure?

Answer 3

Weight reduction if BMI >30

clomifene and/or metformin

Question 4

What is the second line treatment for type II ovarian failure?

Answer 4

clomifene and metformin
or
ovarian drilling (laparoscopic)
or 
gonadotrophins

Question 5

What tests are recommended by NICE for assessment of infertility in all women?

Answer 5

Chlamydia

mid-luteal phase progesterone

Question 6

What test result is suggestive of anovulation as the cause of infertility from primary tests recommended by NICE?

Answer 6

low mid-luteal progesterone <16nmolL

Question 7

What tests are generally performed before referral to an infertility clinic?

Answer 7

chlamydia
mid-luteal phase progesterone
FSH
LH
prolactin
thyroid

Question 8

What are the features of a type III ovarian failure?

Answer 8

Anovulation/menopause
High FSH/LH
Low progesterone <16nmol/l

Question 9

How would you treat subfertility due to type III ovarian failure?

Answer 9

IVF donor eggs

Question 10

What are the features of menopausal ovaries?

Answer 10

ovarian volume on ultrasound is less than 2cubic cm

Question 11

How is menopause diagnosed in patients older than 45?

Answer 11

symptoms of menopause (irregular periods/vasomotor symptoms) or 12 months no period without contraception

Question 12

How is menopause diagnosed in patients younger than 45?

Answer 12

Symptoms of menopause/perimenopause + elevated FSH levels

Question 13

What HRT can be given to women with or without a uterus?

Answer 13

HRT oestrogen and progesterone for women with a uterus and oestrogen only for women with a uterus (due to oestrogen increasing risk of endometrial cancer)

Question 14

Which two conditions cause congenital absence of the uterus?

Answer 14

Mullerian agenesis AKA Rokitansky-Kuster-Hauser syndrome (1 in 5000), karyotype 46XX (female karyotype but the uterus fails to develop) - normal oestrogen/LH/FSH

Complete Androgen Insensitivity Syndrome AKA Testicular Feminisation Syndrome (1 in 40,000) - karyotype 46XY - low estradiol

Question 15

How do you diagnose PCOS?

Answer 15

Rotterdam criteria 2/3
Polycystic ovaries (either 12 or more follicles or >10cm3 in volume)
anovulation or oligovulation
clinical or biochemical signs of hyperandrogenism

Question 16

What are the clinical features of PCOS?

Answer 16

oligo-ovulation or anovulation
Clinical signs of hyperandrogenism; hirsuitism, alopecia, acne
Obesity
Hyperinsulinaemia, insulin resistance and type II diabetes

Question 17

What are the potential consequences PCOS?

Answer 17

Subfertility
Type II Diabetes or impaired glucose tolerance
Increased of cardiovascular disease
Increased risk of endometrial cancer
obstructive sleep apnoea
psychological issues including depression and anxiety

Question 18

What is acromegaly?

Answer 18

A disorder caused by excessive growth hormone production after the growth plates have closed

Question 19

What are the causes of acromegaly?

Answer 19

The most common cause is a pituitary adenoma but it can also be caused by ectopic GH or GHRH release from adrenal, pancreatic or lung tumours

Question 20

What is the function of growth hormone?

Answer 20

Anabolic effects - increases organ size, promotes protein synthesis
Strengthens bone by increasing calcium retention
Decreases adipose: Increase lipolysis
Increases liver function (increases protein synthesis)
Increases muscle
Increases insulin like growth factor and binding proteins
Increases osteoblast activity (linear growth of bone) via IGF-1

Question 21

Which hormone inhibits growth hormone release?

Answer 21

Somatostatin and insulin like growth factor and hyperglycaemia

Question 22

Which hormone stimulates growth hormone release?

Answer 22

Decrease in glucose, increase in amino acid, stress, GHRH, grhelin (produced by the stomach) and oestrogen and androgen

Question 23

Which cells are in a pituitary adenoma?

Answer 23

Somatotroph cells

Question 24

How is acromegaly diagnosed?

Answer 24

Clinical features and raised levels of IGF-1

Question 25

How do you test for hyperandrogenism in PCOS?

Answer 25

Measuring free androgen index (total testosterone / sex hormone binding protein x 100)

Question 26

What blood results may you see in PCOS?

Answer 26

High or normal total testosterone High free testosterone levels Low or normal Sex hormone-binding globulin. High or normal Free androgen index High LH in comparison to FSH Impaired glucose tolerance or high fasting glucose

Question 27

What is the cause of congenital adrenal hyperplasia?

Answer 27

95% of cases are due to deficiency in 21-hydroxylase (autosomal recessive)

Question 28

What are the consequences of congenital adrenal hyperplasia?

Answer 28

due to deficiency of 21-hydroxalase the adrenal cortex is unable to form cortisol and aldosterone causing a build up of the precursor molecules which results in an increase in androgen formation which cause virilisation in females

Question 29

What level of testosterone would prompt assessment for CAH?

Answer 29

>5nmol/l

Question 30

What are the clinical consequences of CAH?

Answer 30

Deficiency in aldosterone = hyponatraemia/hyperkalaemia and hypotension Deficiency in cortisol = hypoglycaemia and increased ACTH Increased androgens = clitoral enlargement, early puberty, amenorrhoea or oligo-ovulation, hirtuism, alopecia, acne

Question 31

How do you diagnose CAH?

Answer 31

High levels of 17-hydroxyprogesterone (pre-cursor of cortisol), low levels of cortisol and aldosterone and high levels of testosterone, hyponatraemia and hyperkalaemia

Question 32

What is the treatment of CAH?

Answer 32

replacement of cortisol (hydrocortisone) | Replacement of aldosterone (fludocortisone)

Question 33

If a patient has PCOS when should they be tested for gestational diabetes?

Answer 33

At 24-28 weeks gestation

Question 34

What test should be used to assess for diabetes in patients with PCOS?

Answer 34

oral glucose tolerance test, if the result is impaired 7.8-11.1, they should be tested annually

Question 35

What is the cut-off for endometrial hyperplasia in women with PCOS?

Answer 35

7mm

Question 36

Prevention of endometrial hyperplasia in PCOS

Answer 36

COCP or mirena or progestogens may be used to induce bleeds to protect the endometrium (eg, medroxyprogesterone 10 mg daily for 7-10 days every three months)

Question 37

What treatments can be used for subfertility?

Answer 37

clomiphene clomiphene +/- metformin Ovarian cauterisation/drilling

Question 38

What is the cause of type 1 ovarian failure?

Answer 38

Hypothalmic pituitary (stress/low BMI/exercise induced)

Question 39

What are the treatments of type 1 ovarian failure?

Answer 39

weight gain if BMI <19 reduced exercise pulsatile GNRH or gonadotrophins + LH