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University > (I & DSD) - Clinical Aspects of Infertility > Flashcards

(I & DSD) - Clinical Aspects of Infertility Flashcards

1
Q

define infertiliy

A

failure to conceive after 12 months of regular unprotected intercourse

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2
Q

proportion of couples affected by infertility problems

A

10-15%

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3
Q

causes of female infertility

A

either endocrine or anatomical

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4
Q

female endocrine causes of infertility

A

pituitary tumours, hyperthyroidism, polycystic ovaries, weight too high/low, drugs, stress, POF

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5
Q

POF?

A

premature ovarian failure. ovaries stop working before 40. different from premature menopause

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6
Q

female anatomical causes of infertility

A

tubes blocked (may by infection), problem with uterine cavity (e.g. endometriosis), cervical (e.g. antisperm antibodies), genetic causes (congenital absence of uterus & vagina due to mullerian aplasia)

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7
Q

what effect does increasing maternal age have on fertility?

A

sub-fertile/infertile/risk of aneuploidy

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8
Q

causes of male infertility

A

either endocrine or anatomical

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9
Q

male anatomical causes of infertility

A

infection, sperm autoimmunity, obstruction, torsion/trauma of testes, chemotherapy, cryptorchidism

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10
Q

what does cryptorchidism mean?

A

absence of one or both testes from the scrotum

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11
Q

can male and female fertility compensate for each other?

A

yes, super fertile female + subfertile male can achieve pregnancy. because subfertile not infertile

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12
Q

male and female symbols?

A

female = cross, male = arrow

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13
Q

how long do a couple need to be trying to conceive before GP will perform initial investigations?

A

at least 12 months without success

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14
Q

investigations on couple after one year of trying to conceive without success?

A

male - semen analysis, to see conc. motility and form. female - look at FSH/LH to check if having normal cycles or close to menopause

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15
Q

following initial GP tests, referred to fertility clinic for which investigations?

A

test based on history/referral - hysterosalpingography, laparoscopy and dye test, karyotype, CF (if male no sperm)

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16
Q

what is a hysterosalpingography?

A

radiologic procedure to see shape of uterine cavity and FT, radio-opaque material injected in - fluoroscopy (x-ray)

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17
Q

what is a laparoscopy?

A

small instrument inserted through abdominal wall to view …

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18
Q

normal sperm count

A

20x10(^6)/ml

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19
Q

azoospermia

A

absence of motile sperm in the semen

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20
Q

severe oligospermia

A

less than <5-10x10(^6)/ml

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21
Q

oligospermia

A

low sperm concentration in ejaculate (less than 20x10(^6)/ml)

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22
Q

azthenozoospermia

A

<50% of sperm have normal motility or <25% have any motility

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23
Q

teratozoospermia

A

<30% of sperm have normal morphology

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24
Q

assisted reproductive techniques (ART)

A

IVF, ICSI, PGD

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25
Q

what is IVF?

A

stimulated to produce more eggs, collected from ovary, man produces sperm, put together in a dish in lab

26
Q

what is ICSI?

A

sperm from man, if low no. and not v.mobile - injected into egg to aid fert

27
Q

what is PGD?

A

IVF to produce embryos, tested for inherited family condition at risk of getting. after few days a single cell taken from embryo and genetic test done, only unaffected into womb

28
Q

options for sub/infertile parents to have kids other than IVF/ICSI/PGD?

A

adoption, sperm/egg donation

29
Q

name some chromosomal causes of infertility

A

Turners, Kleinfelters, Y-microdeletions, Reciprocal autosomal trans, X-autosome trans, Partial X chromosome deletions

30
Q

how many males with oligo- or azoospermia have a chromosome abnormality?

A

approx. 3-13%

31
Q

name clinical features of Turners syndrome

A

gonadal dysgenesis, short stature, congenital heart defects, structural renal anomalies, lower intelligence than family, autoimmune diseases

32
Q

what is gonadal dysgenesis?

A

congenital developmental disorder of the reproductive system

33
Q

name physical features of Turners syndrome

A

short, webbed neck, peripheral odema at birth (swelling around hands/feet when born)

34
Q

what is the frequency of Turners syndrome?

A

1 in 2,500 girls

35
Q

explain gonadal dysgenesis in Turners syndrome

A

streak ovaries, majority fail to enter puberty (POF) and are infertile. females need 2nd X to maintain ovaries, if don’t have they disappear = infertility

36
Q

what can be given for short stature in Turners syndrome?

A

growth hormone

37
Q

explain congenital heart defects in Turners syndrome

A

15-50% of individuals, most common coarctation of aorta followed by ventricular septal defects

38
Q

explain structural renal anomalies in Turners syndrome

A

horseshoe kidneys - fuse together to form one in this shape. no problems but predisposes to more infections

39
Q

explain “lower intelligence than family” in Turners syndrome

A

majority have normal intelligence but when compare to other family members IQ approx. 10-15 points below

40
Q

explain autoimmune disease in Turners syndrome

A

at increased risk of e.g. diabetes, thyroid disease and hearing loss

41
Q

if you have Turners are you at an increased or decreased risk of obesity & cardiovascular disease?

A

increased risk

42
Q

from first glance could you tell someone had Turners?

A

no, not without meeting and examining them

43
Q

Turners karyotype

A

45, X

44
Q

how would Turners be diagnosed?

A

raised NT on scan lead to CVS would identify Turners, diagnosed due to congenital heart disease, coincidental finding maternal age CVS/amnio, at birth if baby has feet swelling/short neck, if child not growing, if fail to go into puberty, try for child - infertility

45
Q

do 45, X conceptions spontaneously abort?

A

yes, majority miscarry

46
Q

explain how would determine recurrence risk if child had Turners

A

45, X recurrence risk is very low (parental samples not requested), structurally abnormal 2nd X (request maternal karyotype to estimate risk)

47
Q

can you be fertile if you have Turners?

A

yes but RARE. commoner if mosaicism with some 46, XX

48
Q

could you use IVF for children if have Turners?

A

yes if you used donor ooctyes, as can carry a pregnancy just don’t have oocytes to start

49
Q

can partial X chromosome deletions affect fertility?

A

depends on where breakpoints are as to the effect on fertility (i.e. breakpoints determine phenotype)

50
Q

affect of Xdeletions?

A

usually ovarian failure if involve critical region, the more proximal deletion is the more severe the problem is (e.g. failure of puberty). a more distal deletion (e.g. would have period but POF)

51
Q

affects of deletion of Xp 22.33

A

this region contains SHOX gene, this therefore leads to short stature

52
Q

Kleinfelters syndrome karyotype

A

47, XXY

53
Q

frequency of Kleinfelters?

A

approx. 1 in 600-1000 males

54
Q

what are clinical features of Kleinfelters?

A

mild, tall but normal health & life span. main = infertility. increased risk of gynaecomastia, intelligence normal but lower than family, decreased bone mineral density = predisposed to osteoporosis

55
Q

what is gynacomastia?

A

enlargement of mans breasts due to hormone imbalance. does happen in normal but in Kleins may persist

56
Q

how would Kleinfelters be diagnosed?

A

adulthood when men have problems with infertility. sometimes picked up incidentally during PND for another condition

57
Q

Kleinfelters is more common as …

A

mother gets older

58
Q

in Kleinfelters syndrome do boys enter puberty?

A

yes, but following this the testes begin to involute & become small & produce low levels of testosterone which leads to some of the symptoms

59
Q

define hypergonadotrophic

A

high levels of FSH & LH trying to get the testes to work

60
Q

define hypogonadism

A

testes produce low levels of testosterone

61
Q

options for males who have Kleinfelters and want children?

A

ICSI possible if do biopsy and find few sperm

62
Q

if child has Kleinfelters would you routinely karyotype parents?

A

no, as recurrence risk is very low (<1%)

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