Reproductive Disorders Flashcards
Female Pseudohermaphroditism
46, XX an overmasculinised female
Male Pseudohermaphroditism
46, XY, undermasculinised male
Klinefelter’s Syndrome
Male with an extra X chromosome, XXY
Symptoms of Klinefelter’s Syndrome
tall, small genteel, impaired speech, small external genital, pear shaped body
How does Klinefelter’s Syndrome occur
Meiotic non-disjunction of the X chromosome of either parent, the extra X chromosome does not permit the survival of germ cells in the testis
Azzospermia In Klinefelters Syndrome
14% of men with this condition are azoospermic, which means no sperm in semen
hormones in Klinefelters Syndrome
decreased Androgen levels and increased levels of LH, FSH and Oestrogens
Why is there decreased Androgen in Klinefelter’s
because no sperm in testis
Why is there increased height in Klinefelter’s Syndrome
inability of hormones to control growth
45XO Turners Syndrome
complete or partial X chromosomes monosomy in a phenotypic female, usually it Is an XX
XO Turners Syndrome and Infertility
loss of an X chromosome leads to an early loss of follicles, lack of ovarian development and usually infertility
Clinical features of XO Turners Syndrome
webbed neck, low set ears, nevi (spots over the body)
Pure Gonadal Dysgenesis
chromosomes are either 46 XY or 46 XX
what does baby appear as in Pure Gonadal Dysgenesis
As a female
what happens in Pure Gonadal Dysgenesis
there is no development of Gonads, testes may be present but they don’t develop, so the absence of testes make the child look female
True Hermaphroditism
is extremely rare and a combination of gonadal transport is present.
Gynadromorph
an ovary on one side and testies on the other side
When is a couple considered Infertile
have participated in unprotected sex for a year without becoming pregnant
Oligospermia
reduced sperm numbers
Teratosoospermia
increased number of abnormalities
Asthenazoospermia
decreased motility of sperm
Azoospermia
absence of sperm
normal volume of sperm
2-6 ml
Doubtful volume of sperm
1.5 -2 mL
Infertile volume of Sperm
less than 1.5 ml
Normal count of sperm per mL
20-250
Doubtful count of sperm per mL
10-20
Infertile count of sperm per mL
less than 10
Motility % of normal sperm
more than 50%
Motility % of doubtful sperm
35-50
Motility % of infertile sperm
less tha 35
what is the most important feature of sperm
sperm count
Varicocoele
A varicose vein in the scrotum can raise testis temperature or restrict movement of sperm, nearly always on the left side
Retrogade ejaculation
semen flows into the bladder rather than the urethra during ejaculation
cause day diabetes, surgery or som medication
Orchitis
inflammation of the testis, can cause temporary or permanent infertility
Genetic cause of Infertility: Androgen Receptors
Mutation in the Androgen receptor gene, leading to Androgen resistance syndrome, this means no development of the male reproductive system
Genetic cause of Infertility: CBAVD
Mutations in the CF gene, 95% of males with CF have CBAVD, you can only collect the good sperm from the epididymis
Azoospermia Factor (AZF)
Deletions ofAZF gene, located on the Y chromosomes
Males with CF
all will be infertile: there is a high production of mucous so blockage of importance areas in the reproductive system
Common causes of Female Infertility
Endometriosis (5-10%) Polycystic Ovarian Syndrome (5-10%) Fibroids (about 20%) Pelvic Inflammatry Disease (?) Premature Ovarian Failure (1-2%)
What is the main cause of Tubal Disease?
Pelvic Inflammatory disease (PID)
PID and infertility in women
after one episode of PID, 10% of women are infertile, that increases with each episode and after 3 or more, more than 50% of women are infertile
What is Tubal Disease
seen as blockage and damage commonly due to chlaymdia infection or adhesions due to surgery or endometriosis
treatment of Tubal Disease
tubal surgery or in vitro fertilisation
Main site of infection in Chlamydia
The cervix
Symtoms of Chlamydia
spotting between periods, yellowish vaginal discharge and frequent urination
What is the most preventable form on infertility
Chlamydia
Obesity and fertility
reduced fertility
Overweight and PCOs
lower ovulation rate and overweight women undergoing IVF treatment have a reduced chance of pregnancy
Smoking and Pregnancy
3 times higher incidence of infertility and a poorer response to fertility treatment and reduced chance of conception
smoking and miscarriage
50% higher miscarriage rate and an increased risk of ectopic pregnancy
Menopause and Smoking
Menopause occurs earlier
Men and Smoking
reduction of sperm count
higher risk of impotence
increased birth defects and childhood cancer in their children
Clinical Priority Assessment Criteria
funded specialist treatment eligible for woman who is a resident, under 40 and have had one year of infertility
Bicornate Uterus
happens in 1:250 women and has a spectrum of severity
it isassociated with recurrent pregnancy loss, preterm birth and breech presentation
Menstrual Disorders
Amenorrhoea Menorrhagia Endometriosis Dysmenorrhea Premenstural Syndrome
Amenorrhea
failure to menstruate once a BMI of 19 is reached
secondary Amenorrhea
failure to menstruate for three months in a woman who has previously menstruated
Oligomenorrhoea
infrequent mensuration
Premature Ovarian Failure
Ovarian Failure under the age of 40 years
FSH is lower than 40IU/L
how many women does Premature Ovarian Failure affect?
1% of all women and 0.1% before the age of 30
Causes of Premature Ovarian Failure
Autoimmune conditions
Permenant damage to the ovary (fixed with Chemotherapy)
X chromosome abnormalities
Familial Genetic Causes
Sports Amenorrhea
Low BF and exercise related chemicals (such as beta endorphins and catecholamines) disrupt interplay of oestrogen and progesterone
how much body fat for a female to menstruate?
22% for a female to be fertile
Polycycstic Ovarian Syndrome
association of Hyperandrogenism with chronic an ovulation in women without the underling diseases of the adrenal and pituitary gland
POS causes
disorder of the hypothalamus-pituatiry axis characterised by raised LH and Testostorone
Menorrhagia
Abnormal heavy and prolonged menstrual bleeding
deplete iron level
Pelvic Causes of Menorrhagia
Fibroids/polyps Endometrial Hyperplasia Adenomyosis Incomplete Miscarriage Carcinoma of cervix or endometrium
Systemic Causes of Menorrhagia
Platelet Disorders
Endometriosis characyeristics
presence and growth of endometrial cells outside the uterus, usually in the peritoneal cavity, prehaps due to retrograde menstruation
diagnosis of Endometriosis
Cannot be done though ultrasound, only through laparoscopic diagnosis
Symptoms of Endo
painful periods, adhesions and sub fertility
When does End occur
never before Puberty, regresses after menopause
PMS
recurring psychological and or physical symptoms which occur specifically in the luteal phase and are releived by menopause
Premestural Dysphoric Disorder
When PMS syndromes are so bad that they are disabling. Happens in about 5% of women
Disorders of pregnancy
Miscarriage
Premature or preterm labour
Ectopic Pregnancy
Pre-eclampsia
Miscarriage
most common complication of pregnancy
defined as loss prior to 20 weeks
preterm labour
labour resulting in live birth before 37th week of pregnancy is termed pre-term labour
Stillbirth
fetes that dies in the uterus after 20weeks of pregnancy
how many miscarriages in trimester 1
about 75% of miscarriages and a pregnancy with a genetic problem has a 95% chance of miscarriage
Causes of miscarriages in second trimester
Uterine Malformations , growths in the uterus (fibroids) or cervical problems
causes of later term miscarriage
problems with the placenta
Ectopic Pregnancy
when the fertilised ovum is implanted in any tissue other than the uterine wall
where do most ectopic occur?
in the Fallopian tube
where do other ectopic pregnancies occur?
2% in the ovary, cervix or are intraabdominal
what increases the chance of Ectopic pregnancies
smoking, advanced maternal age or prior tubal damage
pre-eclampsia
hypertension in pregnancy in association with significant amount of protein in the urine
how many pregnancies are affected by pre-eclampsia
2-6%
what types of Gynaecological Cancer are there?
Ovary, Uterus, Cervix and Vulva
what does the Incessant Ovulation Hypothesis state?
ovarian epithelial cells undergo several rounds of division and proliferative growth to heal the wound in the surface resulting from ovulation. tis increases the chance of genetic error occurring during repair
benign tumours of the ovary
cysts (painful)
Epithelial tumours (hardly ever become cancerous)
Teratomas
what are benign tumours of the uterus made of?
Fibroids are local overgrowths of smooth muscle cells (myometrium) in the uterine walls
Cryporchidism
absence from the scrotum of one or both testes. There is a failure of testis to descend during fatal development from abdominal position
incidence of Cryporchidism
3% of full term and 30% of premature infant boys but they descend later on, so the real incidence is about 1%
Erectile Dysfunction
inability to achieve or sustain an erection for satisfactory sexual activity
Physical causes of Erectile Dysfunction
- Never damage from damage
- Cardiovascular disorders affecting blood supply to pelvis
- some prescription meds
- hormones
- some surgeries
- fractures to spinal cord
- alcohol and smoking
Andropause
a medical phenomenon in men that resembles menopause
when does Andropause occur?
40 and 55 in age
what is Andropause distinguished by?
a drop in hormones, particularly Testosterone
list the Male Reproductive Disorders
- intersex disorders
- Klinefelter’s - - Cryptoorchism
- Delayed puberty
- Erectile Dysfunction
- Prostate Cancer
- Declining Fertility with age
