(I & DSD) - Clinical Aspects of Infertility Flashcards
define infertiliy
failure to conceive after 12 months of regular unprotected intercourse
proportion of couples affected by infertility problems
10-15%
causes of female infertility
either endocrine or anatomical
female endocrine causes of infertility
pituitary tumours, hyperthyroidism, polycystic ovaries, weight too high/low, drugs, stress, POF
POF?
premature ovarian failure. ovaries stop working before 40. different from premature menopause
female anatomical causes of infertility
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)
what effect does increasing maternal age have on fertility?
sub-fertile/infertile/risk of aneuploidy
causes of male infertility
either endocrine or anatomical
male anatomical causes of infertility
infection, sperm autoimmunity, obstruction, torsion/trauma of testes, chemotherapy, cryptorchidism
what does cryptorchidism mean?
absence of one or both testes from the scrotum
can male and female fertility compensate for each other?
yes, super fertile female + subfertile male can achieve pregnancy. because subfertile not infertile
male and female symbols?
female = cross, male = arrow
how long do a couple need to be trying to conceive before GP will perform initial investigations?
at least 12 months without success
investigations on couple after one year of trying to conceive without success?
male - semen analysis, to see conc. motility and form. female - look at FSH/LH to check if having normal cycles or close to menopause
following initial GP tests, referred to fertility clinic for which investigations?
test based on history/referral - hysterosalpingography, laparoscopy and dye test, karyotype, CF (if male no sperm)
what is a hysterosalpingography?
radiologic procedure to see shape of uterine cavity and FT, radio-opaque material injected in - fluoroscopy (x-ray)
what is a laparoscopy?
small instrument inserted through abdominal wall to view …
normal sperm count
20x10(^6)/ml
azoospermia
absence of motile sperm in the semen
severe oligospermia
less than <5-10x10(^6)/ml
oligospermia
low sperm concentration in ejaculate (less than 20x10(^6)/ml)
azthenozoospermia
<50% of sperm have normal motility or <25% have any motility
teratozoospermia
<30% of sperm have normal morphology
assisted reproductive techniques (ART)
IVF, ICSI, PGD
what is IVF?
stimulated to produce more eggs, collected from ovary, man produces sperm, put together in a dish in lab
what is ICSI?
sperm from man, if low no. and not v.mobile - injected into egg to aid fert
what is PGD?
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
options for sub/infertile parents to have kids other than IVF/ICSI/PGD?
adoption, sperm/egg donation
name some chromosomal causes of infertility
Turners, Kleinfelters, Y-microdeletions, Reciprocal autosomal trans, X-autosome trans, Partial X chromosome deletions
how many males with oligo- or azoospermia have a chromosome abnormality?
approx. 3-13%
name clinical features of Turners syndrome
gonadal dysgenesis, short stature, congenital heart defects, structural renal anomalies, lower intelligence than family, autoimmune diseases
what is gonadal dysgenesis?
congenital developmental disorder of the reproductive system
name physical features of Turners syndrome
short, webbed neck, peripheral odema at birth (swelling around hands/feet when born)
what is the frequency of Turners syndrome?
1 in 2,500 girls
explain gonadal dysgenesis in Turners syndrome
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
what can be given for short stature in Turners syndrome?
growth hormone
explain congenital heart defects in Turners syndrome
15-50% of individuals, most common coarctation of aorta followed by ventricular septal defects
explain structural renal anomalies in Turners syndrome
horseshoe kidneys - fuse together to form one in this shape. no problems but predisposes to more infections
explain “lower intelligence than family” in Turners syndrome
majority have normal intelligence but when compare to other family members IQ approx. 10-15 points below
explain autoimmune disease in Turners syndrome
at increased risk of e.g. diabetes, thyroid disease and hearing loss
if you have Turners are you at an increased or decreased risk of obesity & cardiovascular disease?
increased risk
from first glance could you tell someone had Turners?
no, not without meeting and examining them
Turners karyotype
45, X
how would Turners be diagnosed?
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
do 45, X conceptions spontaneously abort?
yes, majority miscarry
explain how would determine recurrence risk if child had Turners
45, X recurrence risk is very low (parental samples not requested), structurally abnormal 2nd X (request maternal karyotype to estimate risk)
can you be fertile if you have Turners?
yes but RARE. commoner if mosaicism with some 46, XX
could you use IVF for children if have Turners?
yes if you used donor ooctyes, as can carry a pregnancy just don’t have oocytes to start
can partial X chromosome deletions affect fertility?
depends on where breakpoints are as to the effect on fertility (i.e. breakpoints determine phenotype)
affect of Xdeletions?
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)
affects of deletion of Xp 22.33
this region contains SHOX gene, this therefore leads to short stature
Kleinfelters syndrome karyotype
47, XXY
frequency of Kleinfelters?
approx. 1 in 600-1000 males
what are clinical features of Kleinfelters?
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
what is gynacomastia?
enlargement of mans breasts due to hormone imbalance. does happen in normal but in Kleins may persist
how would Kleinfelters be diagnosed?
adulthood when men have problems with infertility. sometimes picked up incidentally during PND for another condition
Kleinfelters is more common as …
mother gets older
in Kleinfelters syndrome do boys enter puberty?
yes, but following this the testes begin to involute & become small & produce low levels of testosterone which leads to some of the symptoms
define hypergonadotrophic
high levels of FSH & LH trying to get the testes to work
define hypogonadism
testes produce low levels of testosterone
options for males who have Kleinfelters and want children?
ICSI possible if do biopsy and find few sperm
if child has Kleinfelters would you routinely karyotype parents?
no, as recurrence risk is very low (<1%)
