Causes Of Infertility Flashcards

1
Q

what is kallmanns syndrome

A

Genetic disorder that causes that causes hypogonadotropic hypogonadism and an impaired sense of smell

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2
Q

who is more likely to get kallmanns syndrome

A

males
although affects both genders

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3
Q

clinical presentation of kallmanns syndrome

A

hypogonadism
hyposmia/anosmia

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4
Q

management of kallmanns syndrome

A

hormone replacement therapy

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5
Q

what is the most common genetic cause of hypogonadism

A

klinefelter’s syndrome

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6
Q

what causes klinefelters syndrome

A

genetic nondisjunction

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7
Q

genotype usually seen in klinefelters

A

47 XXY

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8
Q

investigation for klinefelters

A

karyotyping

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9
Q

complications of klinefelters

A
  • increased incidence of cryptorchidism, learning disability and psychosocial issues
  • Increased risk of breast cancer and non-Hodgkin lymphoma
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10
Q

what is premature ovarian failure

A

when ovaries stop working before the age of 40

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11
Q

name some genetic causes of premature ovarian failure

A

turners syndrome
fragile X

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12
Q

name some other causes of premature ovarian failure

A

idiopathic
chemo/radiotherapy
oophorectomy

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13
Q

clinical presentation of premature ovarian failure

A

hot flushes, night sweats
atrophic vaginitis
amenorrhoea
infertility

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14
Q

endocrine features of premature ovarian failure

A

high FSH, LH
low oestradiol

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15
Q

management of premature ovarian failure

A

HRT
egg or embryo donation
cryopreservation if it is anticipated

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16
Q

what is the most common endocrine disorder in women

A

polycystic ovary syndrome

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17
Q

how do people get PCOS

A

its inherited

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18
Q

what can PCOS be exacerbated by

A

weight gain

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19
Q

what is associated with PCOS

A

insulin resistance

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20
Q

clinical presentation of PCOS

A

obesity
hirsutism or acne
cycle abnormalities and infertility

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21
Q

what is needed for a diagnosis of PCOS

A

2/3 of:
1. oligo/amenorrhoea
2. polycystic ovaries
3. clinical or biochemical signs of hyperandrogenism (acne, hirsutism)

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22
Q

what are the signs of polycystic ovaries (3)

A

increased ovarian volume
12+ 2-9mm follicles
unilateral or bilateral

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23
Q

endocrine features of PCOS

A
  • high free androgens
  • normal oestrogen levels
  • high LH
  • impaired glucose tolerance
    • normal pancreatic reserve, so hyperinsulinemia
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24
Q

what is given to patients with PCOS who want to get pregnant

A

clomiphene citrate

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25
what is given to restore menstruation and ovulation in patients with PCOS
metformin
26
what is anorexia nervosa
an eating disorder characterised by a pathological fear of gaining weight and distorted body image
27
who is more likely to develop anorexia
females
28
endocrine features of anorexia nervosa
low FSH, LH and oestradiol
29
what is the problem in type 1 ovulatory disorder
hypothalamus
30
what is the problem in type 2 ovulatory disorder
pituitary
31
what is the problem in type 3 ovulatory disorder
ovaries
32
what is type 4 ovulatory disorder
PCOS
33
how can we assess ovulation in a patient with regular cycles
midluteal serum progesterone
34
how can we assess ovulation in a patient with irregular cycles
hormone evaluation
35
what is a progesterone challenge test
administration of progesterone to induce a period
36
what would indicate a normal result in a progesterone challenge test
withdrawal bleeding 7-10 days after progesterone
37
what other tests can you do in ovulatory disorders
MRI of pituitary transvaginal ultrasound bone density scan
38
management of type 1 anovulation
stabilise weight pulsatile GNRH or gonadotrophin daily injections
39
what is used to asses if treatment of type 1 anovulation is working
ultrasound
40
what are the 2 main types of tubal disease
infective and non-infective
41
name some causes of infective tubal disease
pelvic inflammatory disorder transperitoneal spread e.g. appendicitis following a procedure
42
name some infections associated with pelvic inflammatory disorder
chlamydia, gonorrhoea
43
name some non-infective causes of tubal disease
endometriosis fibroids, polyps congenital
44
what can occur as a result of pelvic inflammatory disorder
hydrosalpinx
45
what is hydrosalpinx
the fallopian tube is blocked and fills with serous or clear fluid near the ovary
46
clinical presentation of pelvic inflammatory disorder
abdo/pelvic pain febrile vaginal discharge infertility/ectopic pregnancy
47
what is endometriosis
the presence of endometrial glands outside the uterine cavity
48
how do we investigate endometriosis
US scan
49
US scan of a patient with endometriosis
uterus fixed and retroverted chocolate cysts on ovary
50
clinical presentation of endometriosis
dysmenorrhoea usually before menstruation painful sex, defaecation chronic pelvic pain menorrhagia
51
what is primary hypogonadism
the testes are primarily affected
52
name some congenital causes of primary hypogonadism
klinefelter's syndrome cryptorchidism Y-chromosome microdeletions
53
acquired causes of primary hypogonadism
testicular trauma/torsion chemo/radiotherapy varicocele mumps
54
what is varicocele
varicose veins in the scrotum
55
what is secondary hypogonadism
hypothalamus or pituitary is primarily affected
56
hypergonadotrophic hypogonadism
primary
57
hypogonadotrophic hypogonadism
secondary
58
name 2 congenital causes of secondary hypogonadism
kallmanns prader-willi syndrome
59
name some acquired causes of secondary hypogonadism
pituitary damage hyperprolactinaemia obesity/diabetes acute systemic illness eating disorders, excessive exercise
60
clinical presentation of pre-pubertal onset of male hypogonadism
small sexual organs decreased body hair, high pitched voice gynaecomastia decreased bone and muscle mass
61
clinical presentation of post-pubertal onset of male hypogonadism
normal pubertal development decreased libido decreased pubic/axillary hair decreased muscle and bone mass
62
investigations of male hypogonadism
1. measure AM testosterone 2. repeat if low 3. measure LH/FSH
63
elevated LH/FSH hypogonadism
hypergonadotrophic hypogonadism
64
low/inappropriately normal LH/FSH hypogonadism
hypogonadotrophic hypogonadism
65
when should testosterone be measured and why
8-11AM as it peaks in the morn
66
management of male hypogonadism
testosterone replacement therapy
67
when is testosterone replacement contraindicated
previous hormone responsive cancer possible prostate cancer haematocrit >50% severe sleep apnoea or heart failure