Lecture 7 and 8: reproductive disorders Flashcards
Klienefelters syndrome
What is it:
- 47, XXY (extra X chromosome)
- Occurs in 1:600 men
- extra X means that germ cells in the testis cant develop and grow
- what is meiotic non-disjunction
failure of homologous chromosomes to seperate during meiosis
Clinical signs:
- impaired leydig cell function - cant go through spermatogenesis - Azoospermia (low sperm count) - low androgen levels (low testosterone) - high LH, FSH and oestrogen - symptoms - height >6 feet - small external genitalia - pear shaped body - not hairy - infertile or sterile - learning difficulties - impaired speech - psychological problems
Turners syndrome
What is it
- 45XO (missing X chromosome) - quite common 1:2500
Clinical signs
- no X chr = early loss of follicles, lack of ovarian development and most likely infertility
symptoms
- Webbed neck - low hairline - broad shoulders - wide spaced nipples - short - ovaries poorly formed or missing - incomplete sexual development - most like infertile
Pure gonadal dysgenesis
What is it:
- Chromosomes are either 46, XX or 46 XY
clinical signs:
- Baby appears as a female - Progressive loss of primordial germ cells in the developing gonads of an embryo - Germ cells either don't form at all or they don't interact with the gonadal ridge or they are accelerated to cell death - after childhood, only a streak gonad is present (bilateral streak)
True hermaphrodistism
- combination of gonadal tissue is present
- may have an ovotestis (a bit of both ovary-ovarian follicle and testes- seminiferous tubules)
who does infertility effect?
6-7 couples go to a specialist
How is a couple considered infertile?
if they have participated in unprotected sex for a year without becoming pregnant
What causes infertility?
A range of things from:
- tubal factors
- ovulatory dysfunction
- diminished ovarian reserve
- endometriosis
- uterine factor
- combination of both male and femal
oligospermia
oligospermia
teratosoospermia
increase number of abnormal sperm
asthenozoospermia
decreases motility
azoospermia
absence of sperm
what is a normal sperm volume | count | motility %?
- volume: 2-6 ml
- count: 20-250 mil
- Motility: >50%
what is an infertile sperm volume | count | motility %?
- volume: less than 1.5 ml
- count: less than 10 mil
- Motility: less than 35%
leading cause of male infertility?
low sperm count - oligospermia
What are the four characteristics to consider for sperm normality?
- volume
- count
- motility
- morphology
Whats a procedure that can be done if the egg zona pellucida is too thick or sperm motility sucks?
intracytoplasmic sperm injection
What are some physical causes of male infertility?
- Varicocoele: Varicose vein in the scrotum can raise temperature of testis, or can restrict movement of sperm
- Retrograde ejaculation: semen goes to the bladder instead of urethra, caused by diabetes , medication
- Orchitis: inflammed testis, causes by either infection from STI or bacterial
- Androgen receptors: androgen resistance syndrome
- Congenital bilateral absense or vas deferens
- Azoospermia factor
What are common causes of female infertility?
- Endometriosis (5-10%)
- Polycystic ovarian syndrome (5-10%)
- Fibroids (20%)
- pelvic inflammatory disease
- premature ovarian failure (hard to fix)
whats an increasing problem that comes with delaying pregnancies?
- its an issue because humans aren’t actually fertile mammals
- highest fertility: 24 years
What is tubal disease
- pelvic inflammatory disease→ major cause of tubal disease → infertility
- caused by microorganisms going from vagina to cervix
common cause of tubal disease
- Chlamydia (50%), infected site is cervix.
- symptoms: spotting between periods, yellowish vaginal discharge, frequent urination
- 75% of women don’t have symptoms
- 20-40% of women have antibodies to chlamydia
- preventable with antibiotics
- NZ has highest rates of chlamydia
does cervical factors contribute to infertility?
yes.
- low cervical mucus production can prevent sperm from travelling through to fallopian
- anti-sperm antibodies can kill sperm
Does obesity (risk factor) contribute to infertility?
- associated with reduce fertility
- obese women with Polycystic ovarian syndrome tend to be anovula (don’t have ovulation)
- have higher risk of pregnancy issues (recurrent miscarriage, neural tube defect, operative deliveries
- 5% weight loss = improves fertility
Does smoking (risk factor) contribute to infertility?
WOMEN
- smokers have 3X higher incident of infertility
- dont respond well to treatment
- 50% higher miscarriage rate, increase ectopic pregnancy
- early onset menopause
MEN
- low sperm count
- higher risk of not getting erection
- increase birth defect
- increase risk of asthma in their kids
What is the clinical priority assessment criteria?
Public funded treatment for those eligible
- women less than 40
- at least one year of infertility
Whats bicornate uterus?
- 1:250
- can go undetected
- associated with recurrent miscarriage, pre-term birth, breech presentation
Amenorrhoea
- What is it?
- no periods once a BMI of 19 has been established
- Causes
- Ovarian disorderE.g. premature ovarian failure:
- women under 40
- FSH production is >40 iu/L
- hypothalamus pituitary axis disordersE.g. Sports amenorrhoea
- low body fat can disrupt synthesis of oestrogen and progesterone
- adipose is significant source of oestrogen, if levels are low, LH surge is prevented…
- female athlete triad: energy deficient, low bone mass, menstrual disturbance
- inappropriate hormone productionE.g. Polycystic ovarian syndrome:
- association with hyperandrogenism with chronic anovulation (no ovulation)
- characterised by increase LH (from adipose) and testosterone levels (because theres a fall in hormone binding globulin)
- symptoms include acne, obesity and hirsuitism
- ovaries are enlarged by peripheral ring of follicles and stromal hypertrophy (looks like pearls)
- Ovarian disorderE.g. premature ovarian failure:
menorrhagia
- What is it?
- heavy periods, can lead to anaemia if theres excessive loss of blood
- two types: ovulatory (common) and non-ovulatory
- common in PCOS women
- Causes
- unexplained real heavy periods
- pelvic causes: fibroids, endometrial hyperplasia, incomplete miscarriage
- systemic: platelet disorders
endometriosis
- What is it + symptoms?
- presence or growth of endometrial cells outside uterus (in peritoneal cavity)
- needs to be diagnosed by laparoscopic
- painful periods, adhesions and subfertility
- only happens during times when women have periods, between start of puberty and before menopause
- 60% of women with it are infertile
dysmenorrhoea
- What is it?
- Painful periods that are sharp, intermittent pain/dull, aching in pelvis/ lower abdomen
- secondary dysmenorrhoea is menstrual pain that has underlying disease process or structural abnormalities.
- common in young women
- muscle spasm
premenstrual syndrome (PMS)
- what is it?
- psychological (e.g. irritated) and/or physical symptoms (e.g. cramps, bloating, tender breasts), during luteal phase, and relieved by menstruation
- 80% of women have it, mild symptoms
- seen in women over 30 years
Miscarriage
- What is it?embryo doesn’t survive: gestation of prior to 20 weeks.
- still birth is losing fetus at 20th week - Causes
- chromosomal abnormalities found in first 13 weeks
- genetic problems (common in older parents)
- progesterone deficiency
- placental issues
- Second trimester → uterine malfunction, growths in uterus, umbilical cord, placenta
premature labour
- what is it?
- childbirth earlier than 37 weeks of gestation
- preterm babies have higher risk of dying in their first year, developing serious health problems like cerebral palsy, chronic lung disease, GI issues, vision and hearing loss
- causes
- previous history
- multiple pregnancies
- cervical abnormalties
- infections
- substance abuse
- under 18 yrs or older than 30 yrs
- pre-eclampsia
- stress
ectopic pregnancy
- What is it
- fertilised ovum is implanted in other tissue other than uterine wall, commonly the uterine tube
- causes
- smoking
- age
- prior tubal damage
pre-eclampsia
- What is it?
- high blood pressure
What is incessant ovulation hypothesis?
That the ovarian epithelial cells undergo lots of cell division and proliferation to heal “wounds” that occur during ovulation. This may increase change of genetic error during this repair?
what are benign tumors?
- non cancerous tumors that are fibroids (growths) found on smooth muscle cells of uterine wall.
- it can interfere with menstruation
- can get huge
- they rely on oestrogen to grow
What is most common cancer of female reproductive tract?
cervical
Cryptorchidism
- Cryp= not there
- testes fail to decend
(This movement is achieved by a ligament called the gubernaculum. This ligament attaches the testes to the posterior abdominal wall. It is 5mm in length. It’s length does NOT change. When the embryo grows, it testes “descend” until its inside the scrotum during fetal development) - associated with reduced fertility, increase risk of testicular cancer
- does NOT affect the endocrine function of the testes (i.e. its still able to produce testosterone)
erectile dysfunction
- can’t get erection
- varies in severity
- common in older men
- causes: nerve damage due to obesity; operation for cancer; stress; anxiety; depression; fatigue; multiple sclerosis, fractures from spine
andropause
- men version of menopause
- drop in hormone levels (testosterone)
- physical and psychological changes
