(I & DSD) - Clinical Aspects of Infertility

Question 1

define infertiliy

Answer 1

failure to conceive after 12 months of regular unprotected intercourse

Question 2

proportion of couples affected by infertility problems

Answer 2

10-15%

Question 3

causes of female infertility

Answer 3

either endocrine or anatomical

Question 4

female endocrine causes of infertility

Answer 4

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

Question 5

POF?

Answer 5

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

Question 6

female anatomical causes of infertility

Answer 6

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)

Question 7

what effect does increasing maternal age have on fertility?

Answer 7

sub-fertile/infertile/risk of aneuploidy

Question 8

causes of male infertility

Answer 8

either endocrine or anatomical

Question 9

male anatomical causes of infertility

Answer 9

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

Question 10

what does cryptorchidism mean?

Answer 10

absence of one or both testes from the scrotum

Question 11

can male and female fertility compensate for each other?

Answer 11

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

Question 12

male and female symbols?

Answer 12

female = cross, male = arrow

Question 13

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

Answer 13

at least 12 months without success

Question 14

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

Answer 14

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

Question 15

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

Answer 15

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

Question 16

what is a hysterosalpingography?

Answer 16

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

Question 17

what is a laparoscopy?

Answer 17

small instrument inserted through abdominal wall to view …

Question 18

normal sperm count

Answer 18

20x10(^6)/ml

Question 19

azoospermia

Answer 19

absence of motile sperm in the semen

Question 20

severe oligospermia

Answer 20

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

Question 21

oligospermia

Answer 21

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

Question 22

azthenozoospermia

Answer 22

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

Question 23

teratozoospermia

Answer 23

<30% of sperm have normal morphology

Question 24

assisted reproductive techniques (ART)

Answer 24

IVF, ICSI, PGD

Question 25

what is IVF?

Answer 25

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

Question 26

what is ICSI?

Answer 26

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

Question 27

what is PGD?

Answer 27

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

Question 28

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

Answer 28

adoption, sperm/egg donation

Question 29

name some chromosomal causes of infertility

Answer 29

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

Question 30

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

Answer 30

approx. 3-13%

Question 31

name clinical features of Turners syndrome

Answer 31

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

Question 32

what is gonadal dysgenesis?

Answer 32

congenital developmental disorder of the reproductive system

Question 33

name physical features of Turners syndrome

Answer 33

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

Question 34

what is the frequency of Turners syndrome?

Answer 34

1 in 2,500 girls

Question 35

explain gonadal dysgenesis in Turners syndrome

Answer 35

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

Question 36

what can be given for short stature in Turners syndrome?

Answer 36

growth hormone

Question 37

explain congenital heart defects in Turners syndrome

Answer 37

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

Question 38

explain structural renal anomalies in Turners syndrome

Answer 38

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

Question 39

explain "lower intelligence than family" in Turners syndrome

Answer 39

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

Question 40

explain autoimmune disease in Turners syndrome

Answer 40

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

Question 41

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

Answer 41

increased risk

Question 42

from first glance could you tell someone had Turners?

Answer 42

no, not without meeting and examining them

Question 43

Turners karyotype

Answer 43

45, X

Question 44

how would Turners be diagnosed?

Answer 44

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

Question 45

do 45, X conceptions spontaneously abort?

Answer 45

yes, majority miscarry

Question 46

explain how would determine recurrence risk if child had Turners

Answer 46

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

Question 47

can you be fertile if you have Turners?

Answer 47

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

Question 48

could you use IVF for children if have Turners?

Answer 48

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

Question 49

can partial X chromosome deletions affect fertility?

Answer 49

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

Question 50

affect of Xdeletions?

Answer 50

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)

Question 51

affects of deletion of Xp 22.33

Answer 51

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

Question 52

Kleinfelters syndrome karyotype

Answer 52

47, XXY

Question 53

frequency of Kleinfelters?

Answer 53

approx. 1 in 600-1000 males

Question 54

what are clinical features of Kleinfelters?

Answer 54

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

Question 55

what is gynacomastia?

Answer 55

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

Question 56

how would Kleinfelters be diagnosed?

Answer 56

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

Question 57

Kleinfelters is more common as ...

Answer 57

mother gets older

Question 58

in Kleinfelters syndrome do boys enter puberty?

Answer 58

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

Question 59

define hypergonadotrophic

Answer 59

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

Question 60

define hypogonadism

Answer 60

testes produce low levels of testosterone

Question 61

options for males who have Kleinfelters and want children?

Answer 61

ICSI possible if do biopsy and find few sperm

Question 62

if child has Kleinfelters would you routinely karyotype parents?

Answer 62

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