1.05 - Infertility Flashcards
Define infertility.
A disease of the reproductive system defined by the failure to achieve pregnancy after 12 months or more of regular unprotected sex, between a man and a woman.
What is primary vs secondary infertility.
Primary: when a couple has never been able to conceive.
Secondary: when a couple cannot get pregnant again, despite previously having been able to.
What is the prevalence of infertility?
1 in 7 couples will struggle to conceive.
According to nice, 80% of couple will conceive within 1 year if the woman is aged under 40 years. Of those couples that do not conceive within the first year, around 50% will go on to conceive in the second year.
What are some general causes of infertility?
- male infertility (~30%)
- ovulatory disorders (~25%)
- tubal damage (~20%)
- uterine disorders (~10%)
- idiopathic (~25%)
What general advice can be given to couples who are trying to conceive?
- regular sexual intercourse throughout the woman’s cycle
- preparation for pregnancy (e.g. taking preconceptual folic acid)
- smoking cessation advice to both men and women
- avoidance of drinking alcohol excessively
- BMI 19-25kg/m2
What are the general types of infertility management?
1) Medical treatment (e.g. drugs to induce ovulation, Clomifene).
2) Surgical treatment (e.g. tubal microsurgery in women with tubal damage).
3) Assisted conception (e.g. IVF)
What is primary spermatogenic failure?
The spermatogenic abnormality caused by a condition other than hypothalamic pituitary disease.
What are some causes of primary spermatogenic failure?
Congenital: absence of testes, cryptorchidism, genetic abnormalities.
Acquired: testicular torsion, mumps, orchitis, testicular tumour, varicocele.
Idiopathic.
List some genetic syndromes that may cause male infertility.
Klinefelter’s syndrome: 47 XXY karyotype.
Kallmann syndrome: leads to hypogonadotropic hypogonadism.
Androgen insensitivity syndrome: karyotype XY, phenotypically female.
What is androgen insensitivity syndrome?
Cells are unable to respond to androgen hormones due to a lack of androgen receptors, causing a patient with an XY sex chromosome to appear phenotypically female.
What is the pathophysiology of androgen insensitivity syndrome?
X-linked recessive gene causes a mutation in the androgen receptor gene on the X chromosome.
The patient cannot respond to androgens, with excess converted to oestrogen. This means typical male characteristics do not develop, and patients have normal female external genitalia and breast tissue.
Why do female internal organs not develop in androgen insensitivity syndrome?
The tests produce anti-Müllerian hormone, preventing males from developing an upper vagina, uterus, cervix and fallopian tubes.
Presentation of androgen insensitivity syndrome.
In infancy, inguinal hernias containing testes.
At puberty, with primary amenorrhoea.
How is androgen insensitivity syndrome managed?
Coordinated by a specialist MDT, involving paediatrics, gynaecology, urology, endocrinology.
Medical input involves bilateral orchidectomy, oestrogen therapy and vaginal surgery.
What is obstructive azoospermia?
A bilateral obstruction of the seminal ducts, leading to a total absence of sperm in semen.
Causes include absent vas deferens, post-infection and post-surgery.
Give some causes of hypogonadism in male factor infertility.
Primary: hypogonadotropic hypogonadism due to testicular failure.
Secondary: hypogonadotropic hypogonadism due to reduced GnRH and/or FSH/LH secretion.
Androgen insensitivity: end organ resistance to gonadotrophins.
What are the
a) medications
b) lifestyle factors
c) other factors
that may lead to male factor infertility?
a) chemotherapy, sulfasalazine, anabolic steroids.
b) smoking, obesity, excessive alcohol, illicit drug use.
c) psychological factors leading to ejaculation disorders or erectile dysfunction.
What is the first line investigation for male factor infertility?
Semen analysis - if the first analysis is abnormal, the test should be repeated in 3 months time.