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
who is more likely to develop anorexia
females
endocrine features of anorexia nervosa
low FSH, LH and oestradiol
what is the problem in type 1 ovulatory disorder
hypothalamus
what is the problem in type 2 ovulatory disorder
pituitary
what is the problem in type 3 ovulatory disorder
ovaries
what is type 4 ovulatory disorder
PCOS
how can we assess ovulation in a patient with regular cycles
midluteal serum progesterone
how can we assess ovulation in a patient with irregular cycles
hormone evaluation
what is a progesterone challenge test
administration of progesterone to induce a period
what would indicate a normal result in a progesterone challenge test
withdrawal bleeding 7-10 days after progesterone
what other tests can you do in ovulatory disorders
MRI of pituitary
transvaginal ultrasound
bone density scan
management of type 1 anovulation
stabilise weight
pulsatile GNRH or gonadotrophin daily injections
what is used to asses if treatment of type 1 anovulation is working
ultrasound
what are the 2 main types of tubal disease
infective and non-infective
name some causes of infective tubal disease
pelvic inflammatory disorder
transperitoneal spread e.g. appendicitis
following a procedure
name some infections associated with pelvic inflammatory disorder
chlamydia, gonorrhoea
name some non-infective causes of tubal disease
endometriosis
fibroids, polyps
congenital
what can occur as a result of pelvic inflammatory disorder
hydrosalpinx
what is hydrosalpinx
the fallopian tube is blocked and fills with serous or clear fluid near the ovary
clinical presentation of pelvic inflammatory disorder
abdo/pelvic pain
febrile
vaginal discharge
infertility/ectopic pregnancy
what is endometriosis
the presence of endometrial glands outside the uterine cavity
how do we investigate endometriosis
US scan
US scan of a patient with endometriosis
uterus fixed and retroverted
chocolate cysts on ovary
clinical presentation of endometriosis
dysmenorrhoea usually before menstruation
painful sex, defaecation
chronic pelvic pain
menorrhagia
what is primary hypogonadism
the testes are primarily affected
name some congenital causes of primary hypogonadism
klinefelter’s syndrome
cryptorchidism
Y-chromosome microdeletions
acquired causes of primary hypogonadism
testicular trauma/torsion
chemo/radiotherapy
varicocele
mumps
what is varicocele
varicose veins in the scrotum
what is secondary hypogonadism
hypothalamus or pituitary is primarily affected
hypergonadotrophic hypogonadism
primary
hypogonadotrophic hypogonadism
secondary
name 2 congenital causes of secondary hypogonadism
kallmanns
prader-willi syndrome
name some acquired causes of secondary hypogonadism
pituitary damage
hyperprolactinaemia
obesity/diabetes
acute systemic illness
eating disorders, excessive exercise
clinical presentation of pre-pubertal onset of male hypogonadism
small sexual organs
decreased body hair, high pitched voice
gynaecomastia
decreased bone and muscle mass
clinical presentation of post-pubertal onset of male hypogonadism
normal pubertal development
decreased libido
decreased pubic/axillary hair
decreased muscle and bone mass
investigations of male hypogonadism
- measure AM testosterone
- repeat if low
- measure LH/FSH
elevated LH/FSH hypogonadism
hypergonadotrophic hypogonadism
low/inappropriately normal LH/FSH hypogonadism
hypogonadotrophic hypogonadism
when should testosterone be measured and why
8-11AM as it peaks in the morn
management of male hypogonadism
testosterone replacement therapy
when is testosterone replacement contraindicated
previous hormone responsive cancer
possible prostate cancer
haematocrit >50%
severe sleep apnoea or heart failure
