Causes Of Infertility Flashcards
what is kallmanns syndrome
Genetic disorder that causes that causes hypogonadotropic hypogonadism and an impaired sense of smell
who is more likely to get kallmanns syndrome
males
although affects both genders
clinical presentation of kallmanns syndrome
hypogonadism
hyposmia/anosmia
management of kallmanns syndrome
hormone replacement therapy
what is the most common genetic cause of hypogonadism
klinefelter’s syndrome
what causes klinefelters syndrome
genetic nondisjunction
genotype usually seen in klinefelters
47 XXY
investigation for klinefelters
karyotyping
complications of klinefelters
- increased incidence of cryptorchidism, learning disability and psychosocial issues
- Increased risk of breast cancer and non-Hodgkin lymphoma
what is premature ovarian failure
when ovaries stop working before the age of 40
name some genetic causes of premature ovarian failure
turners syndrome
fragile X
name some other causes of premature ovarian failure
idiopathic
chemo/radiotherapy
oophorectomy
clinical presentation of premature ovarian failure
hot flushes, night sweats
atrophic vaginitis
amenorrhoea
infertility
endocrine features of premature ovarian failure
high FSH, LH
low oestradiol
management of premature ovarian failure
HRT
egg or embryo donation
cryopreservation if it is anticipated
what is the most common endocrine disorder in women
polycystic ovary syndrome
how do people get PCOS
its inherited
what can PCOS be exacerbated by
weight gain
what is associated with PCOS
insulin resistance
clinical presentation of PCOS
obesity
hirsutism or acne
cycle abnormalities and infertility
what is needed for a diagnosis of PCOS
2/3 of:
1. oligo/amenorrhoea
2. polycystic ovaries
3. clinical or biochemical signs of hyperandrogenism (acne, hirsutism)
what are the signs of polycystic ovaries (3)
increased ovarian volume
12+ 2-9mm follicles
unilateral or bilateral
endocrine features of PCOS
- high free androgens
- normal oestrogen levels
- high LH
- impaired glucose tolerance
- normal pancreatic reserve, so hyperinsulinemia
what is given to patients with PCOS who want to get pregnant
clomiphene citrate
what is given to restore menstruation and ovulation in patients with PCOS
metformin
what is anorexia nervosa
an eating disorder characterised by a pathological fear of gaining weight and distorted body image