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%)