infertility Flashcards
Why do male patients with CF have azoospermia?
congenital absence of vas deferens (thick secretions obstruct fetal vas deferens and it obstructs) - sperm can be extracted from the epididymus
What kind of ovarian failure is PCOS?
Type II (hypothalmic -pituitary-ovarian failure)
What is the first line treatment for type II ovarian failure?
Weight reduction if BMI >30
clomifene and/or metformin
What is the second line treatment for type II ovarian failure?
clomifene and metformin or ovarian drilling (laparoscopic) or gonadotrophins
What tests are recommended by NICE for assessment of infertility in all women?
Chlamydia
mid-luteal phase progesterone
What test result is suggestive of anovulation as the cause of infertility from primary tests recommended by NICE?
low mid-luteal progesterone <16nmolL
What tests are generally performed before referral to an infertility clinic?
chlamydia mid-luteal phase progesterone FSH LH prolactin thyroid
What are the features of a type III ovarian failure?
Anovulation/menopause
High FSH/LH
Low progesterone <16nmol/l
How would you treat subfertility due to type III ovarian failure?
IVF donor eggs
What are the features of menopausal ovaries?
ovarian volume on ultrasound is less than 2cubic cm
How is menopause diagnosed in patients older than 45?
symptoms of menopause (irregular periods/vasomotor symptoms) or 12 months no period without contraception
How is menopause diagnosed in patients younger than 45?
Symptoms of menopause/perimenopause + elevated FSH levels
What HRT can be given to women with or without a uterus?
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)
Which two conditions cause congenital absence of the uterus?
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
How do you diagnose PCOS?
Rotterdam criteria 2/3
Polycystic ovaries (either 12 or more follicles or >10cm3 in volume)
anovulation or oligovulation
clinical or biochemical signs of hyperandrogenism
What are the clinical features of PCOS?
oligo-ovulation or anovulation
Clinical signs of hyperandrogenism; hirsuitism, alopecia, acne
Obesity
Hyperinsulinaemia, insulin resistance and type II diabetes
What are the potential consequences PCOS?
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
What is acromegaly?
A disorder caused by excessive growth hormone production after the growth plates have closed
What are the causes of acromegaly?
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
What is the function of growth hormone?
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
Which hormone inhibits growth hormone release?
Somatostatin and insulin like growth factor and hyperglycaemia
Which hormone stimulates growth hormone release?
Decrease in glucose, increase in amino acid, stress, GHRH, grhelin (produced by the stomach) and oestrogen and androgen
Which cells are in a pituitary adenoma?
Somatotroph cells
How is acromegaly diagnosed?
Clinical features and raised levels of IGF-1
How do you test for hyperandrogenism in PCOS?
Measuring free androgen index (total testosterone / sex hormone binding protein x 100)
What blood results may you see in PCOS?
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
What is the cause of congenital adrenal hyperplasia?
95% of cases are due to deficiency in 21-hydroxylase (autosomal recessive)
What are the consequences of congenital adrenal hyperplasia?
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
What level of testosterone would prompt assessment for CAH?
> 5nmol/l
What are the clinical consequences of CAH?
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
How do you diagnose CAH?
High levels of 17-hydroxyprogesterone (pre-cursor of cortisol), low levels of cortisol and aldosterone and high levels of testosterone, hyponatraemia and hyperkalaemia
What is the treatment of CAH?
replacement of cortisol (hydrocortisone)
Replacement of aldosterone (fludocortisone)
If a patient has PCOS when should they be tested for gestational diabetes?
At 24-28 weeks gestation
What test should be used to assess for diabetes in patients with PCOS?
oral glucose tolerance test, if the result is impaired 7.8-11.1, they should be tested annually
What is the cut-off for endometrial hyperplasia in women with PCOS?
7mm
Prevention of endometrial hyperplasia in PCOS
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)
What treatments can be used for subfertility?
clomiphene
clomiphene +/- metformin
Ovarian cauterisation/drilling
What is the cause of type 1 ovarian failure?
Hypothalmic pituitary (stress/low BMI/exercise induced)
What are the treatments of type 1 ovarian failure?
weight gain if BMI <19
reduced exercise
pulsatile GNRH or gonadotrophins + LH
