Clinical Aspects Of Infertility Flashcards
What are some endocrine causes of female infertility?
- Pituitary tumours
- Thyrotoxicosis
- Polycystic ovaries
- Stress
- POF
What are some of the anatomical causes of female infertility?
- Tubal defects
- Uterine cavity defects
- Cervical defects (e.g. Anti-sperm antibodies)
Aside from endocrine issues, what are some other causes of male infertility?
- Infection
- Sperm autoimmunity
- Cryptorchidism (undescended testicle)
- Obstruction
- Torsion/trauma
- Chemotherapy
What is the term for when no sperm are present (obstructive or non-obstructive)?
Azoospermia
Normal sperm count is 20 x10^6/ml. What is the term for when this is lowered?
Oligozoospermia
When the sperm count is lower than 5-10 x10^6/ml, what is this termed?
Severe Oligozoospermia
What is asthenozoospermia?
- less than 50% of sperm have normal motility
OR - less than 25% have any motility
What is teratozoospermia?
- Less than 30% of sperm have normal morphology
What are three examples of assisted reproductive techniques?
- In vitro fertilisation (IVF)
- Intracytoplasmic sperm injection (ICSI)
- Preimplantation genetic diagnosis (PGD)
What are the 6 main chromosomal causes of infertility?
- Turner syndrome
- Partial X-chromosome deletions
- Klinefelter syndrome
- Y chromosome Microdeletions
- Reciprocal autosomal translocations
- X-autosome translocations
How would you define infertility?
- failure to conceive after 12 months of regular unprotected intercourse
OR - inability to sustain pregnancy through to live birth
Outline the key issues with an isodicentric Y
- Y chromosome made up of two copies of the Y p-arm reflected at centromere
- SRY gene present so has male phenotype
- AZF gene lost so there is lack of spermatogenesis
What are the consequences of Y chromosome Microdeletions at AZF (Azoospermia factor) locus?
Azoospermia or severe oligozoospermia
What are the subtypes of AZF Microdeletions?
- AZFa - complete absence of germ cells (sertolli cell only syndrome)
- AZFb - arrest of maturation at spermatocyte
- AZFc variable - SCOS to severe Oligozoospermia with all germ cell types present
What are four ways in which balanced reciprocal autosomal translocations may present?
- Primary infertility (more likely with acrocentrics)
- Recurrent miscarriage (parental chromosomes)
- Contact tracing in family with child born with congenital abnormalities and unbalanced translocation
- Coincidental finding in pregnancy after CVS for another condition
