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Infertility : Definition
y
y
y
y
Causes of Infertility
y
Physiology
y
gy
FSH
(+)
E2
()
(-)
Developing follicle
FSH=Follicle
FSH F lli l Stimulating
Sti l ti Hormone
H
E2=Estradiol
Effects of Aging
g g on the Ovaryy
FSH
E2
((+))
((-))
E2=Estradiol
hysterosalpingogram
laparoscopy
hysteroscopy
May occur as
sequelae of
PID
endometriosis
abdominal/pelvic
surgery
peritonitis
it iti
Male factor
y
y
Abnormal Morphology
Abnormal Morphology
History
y and Physical
y
- Female
y
History
menarche
menarche, puberty
menstrual hx
preganancies,
abortions birth control
abortions,
dysparenunia,
dysmenorrhea
STD
STDs
s, abdominal surg,
surg
galactorrhea
Weight loss/gain
Stress,
Stress exercise
exercise, drugs,
drugs
alcohol, psychological
Physical
weight/BMI
thyroid
skin (striae?
Acanthosis
nigracans?)
p
pelvic ((vaginal
g
mucosa, masses,
pain)
rectal (uterosacral
nodularity)
History
prior fertility
f
l
medications
h/o diabetes, mumps,
undescended testes
genital surgery, trauma,
infections
ED
drug/alcohol use, stress
underwear, hot tubs,
frequent coitus
Physical
habitus
habitus,
gynecomastia
sexual development
testicular volume
(5x3 cm)
epididymis,
p
y
, vas,,
prostate by palpation
check for varicocele
Ab
Abnormal
l Semen
S
A
Analysis
l i
y
Azospermia
Klinefelters (1 in
1000)
Hypogonadotropic
Hypogonadotropichypogonadism
Ductal obstruction
(absence of the Vas
deferens)
Oligospermia
g p
Anatomic defects
Endocrinopathies
Genetic factors
Exogenous (e.g.
heat)
Abnormal volume
Retrograde
ejaculation
Infection
Ejaculatory failure
Evaluation of Abnormal SA
Repeat semen analysis in 30 days
y Physical examination
y
Testicular size
Varicocele
y
Laboratory
y tests
Testosterone level
FSH (spermatogenesis- Sertoli cells)
LH (testosterone(t t t
L di cells)
Leydig
ll )
Referral to urology
Assisted
A
i t dR
Reproductive
d ti
Technologies
T h l i
(ARTs)
-
Intrauterine insemination
Surrogate motherhood
In vitro fertilization (IVF)
Gamete intrafallopian transfer (GIFT)
Zygote intrafallopian transfer (ZIFT)
Oocyte banking and donation
Preimplantation genetic diagnosis
Egg Retrieval
Egg Retrieval
Fertilization
F tili ti
Fertilization
2 Pronuclei (2PN)
1 day
y after egg
gg
retrieval
Embryo Transfer
Embryo Transfer
How
o Many
y Embryos
yo are
Transferred?
y
<35 = 2
35-37 = 2-3
38-40 = 3-4
>40
40 = up to 5
What Happens
pp
to the Other
Embryos?
y
y
y
y
Freeze Embryos
Donate For Research/Stem Cells
Embryo Adoption
Discard
i
d
Assisted hatching
Intracytoplasmic sperm injection
(ICSI)
Preimplantation genetic diagnosis
(
(PGD)
)
Freezing
Egg
gg donation
Surrogacy
Assisted Hatching
Intracytoplasmic
y p
Sperm
p
Injection
j
For cases in which sperm cannot penetrate
the oocyte, IVF can be accompanied by
ICSI which injects sperm directly into the
oocyte
ICSI allows conception in cases of low
sperm count, abnormal sperm shape,
sperm
p
motility
y problems,
p
,
- And in cases where male has spinal
cord injuries and cannot ejaculate
Figure 21.3
Preimplantation Genetic
Diagnosis (PGD)
This PGD techniq
technique
e allo
allows
s detection of
genetic and chromosomal abnormalities
prior to implantation
p
p
One cell or blastomere of an 8-celled
embryo
b
can be
b removed
d for
f testing
t ti
- The remaining cells will complete
normal development
About 29% success rate
Preimplantation Genetic
Diagnosis (PGD)
1989: First children who had PGD
- Used to select females who could not
inherit X-linked disease from mother
1992: First child born following PGD to
screen for cystic fibrosis allele present in
her family
PGD can be
b combined
bi d with
ith IVF for
f women
who have had multiple miscarriages
Preimplantation Genetic
Diagnosis (PGD)
GENETIC DISORDERS IN
INFERTILITY
y
Chromosomal abnormalities
Sperm chromosomal abnormalities
Sex chromosome abnormalities (Klinefelters syndrome
and variants [47,XXY;
[47 XXY; 46,XY/
46 XY/ 47,XXY
47 XXY mosaicism])
Autosomal abnormalities
Translocations
G
Genetic
i defects
d f
Primary
y Infertility
y and Genetics
y
y
y
Cont
III Gonadal(major factor)
Genes
involved in Gonadotrophin receptors
receptors, steroid
hormone receptors, steroid synthesis (poor
prognosis donor), autosomal genes (SOX9,
WT1 can cause sexuall ambiguity+infert.)
bi it i f t )
X Chromosomal causes :
-whole X deletions (45,X cell line with/without
mosaicism (46,XY/ 46,XX/ 47,XXX), when
fertile beware POF -partial X deletions (Xp11,
Xp21 Xq13 putative POF1 region,
Xp21,
region Xq26
putative POF2 region
-X;autosome translocations (rare)
IV Outflow tract
Androgene receptor gene(AR)
Cont
HOXA 13 gene
In male:
Chromosomal abnormality 15 % (azoo),
5 % (oligo)
De novo deletion of azoosp factor region
(AZF) 13% (a/oligo)
Cong.
C
Bilat.
Bil t Abs.
Ab off vas deferens
d f
(CBAVD)
1-2% (azoo)
Currently Gene and Chromosomal
abnormalities are known to affect count
and
a
d motility,
ot ty, yet unknown
u
o
gene
ge e mutations
utat o s
are expected to affect morphology
Genetic counseling
Implications of syndromic causes
Other family members at risk? Offer counseling
Expose
E
reproduction
d ti
options
ti
(d
(donor, adoption),
d ti ) ART
methods (Artif.reprod.techniques): IVF, ICSI, chances
of success, technique, limits, genetic risks
Prenatal Diagnosis
Risk / implications of transmission (ex. Y
microdeletion))
Psychological and ethical implications