Clinical Aspects Flashcards
Common female causes of infertility?
Pituitary hormones
Polycistic ovaries
Cervical (anti seaman antibodies)
Male causes of infertility?
Endocrine
Sperm autoimmunity
Obstruction
Initial tests?
FSH/LH in women
Seman analysis men
Normal sperm count?
20x10^6/ml
What is azoospermia?
No sperm
What is oligospermia?
<5-10x 10^6/ml
<50% of sperm have normal motility=
Asthenozoospermia
<30% sperm have normal morphology?
Teratozoospermia
What is ART? Name 3
Assisted reproductive techniques
In vitro fertilisation
Preimplantation genetic diagnosis
Sperm/egg donation
Frequency of turner?
1 in 2500
Why infertile with 45,X?
Need two X’s for normal ovary function
Other features of turner?
Autoimmune disease
Renal abnormalities
Heart defects
What is consequence of Xq deletions?
Involving criticisable region- ovarian failure
Proximal Xq deletion?
Severe- primary amenhorrhea and failure to enter puberty
Distal Xq deletion?
Menarche(periods begin but still)
POF
What Xp deletion breakpoint results in primary amenhorrhea in 50%?
Xp11
What critical X region contains the SHOX gene?
Xp22.33 (short stature)
What critical region of X conveys thyroid autoimmunity?
Xp11.2-p11.4
What critical X region contains the UBE gene that causes POF?
Xp11.2-p11.4
What is the result of a Xp21 deletion?
Normal menarche, secondary amenhorrhea and infertility
What is the frequency of Klinefelter syndrome?
1 in 800
Other symptoms of Klinefelters?
Narrow shoulders, wide hips, low bone density. Low testosterone leading to high production of LH and FSH (to try and stimulate testosterone production)
Critical region of Y?
AZF on Yq
Effect of A ZFa deletion?
Complete absence of germ cells. (Sortoli cell only syndrome - cells which support sperm growth but don’t produce sperm)
AZFb deletion?
Arrest of maturation at spermatocyte
AZFc deletion?
Variable impact from scos to severe oligospermia with all germ cell types present
What is the impact of the common Yq11.23 deletion?
Deletion contains the DAZ multigene family which is important for spermatocyte development.
What is the effect of an isodicentric Y (mirror image of p)
Will be normal male as SRY present but lacking AZF so lack of spermatogenesis
With a balanced X-auto some translocation which chromosome is selected?
Selection for inactivation of normal X- majority no phenotype
What is the selection for unbalanced X-auto some translocation?
Selection for inactivation of X with translocation -spread to auto some section but milder than expected phenotype
What is the phenotype of a male with X-autosome translocation
Infertile
