1.05 - Infertility Flashcards

1
Q

Define infertility.

A

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.

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2
Q

What is primary vs secondary infertility.

A

Primary: when a couple has never been able to conceive.

Secondary: when a couple cannot get pregnant again, despite previously having been able to.

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3
Q

What is the prevalence of infertility?

A

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.

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4
Q

What are some general causes of infertility?

A
  • male infertility (~30%)
  • ovulatory disorders (~25%)
  • tubal damage (~20%)
  • uterine disorders (~10%)
  • idiopathic (~25%)
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5
Q

What general advice can be given to couples who are trying to conceive?

A
  • 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
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6
Q

What are the general types of infertility management?

A

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)

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7
Q

What is primary spermatogenic failure?

A

The spermatogenic abnormality caused by a condition other than hypothalamic pituitary disease.

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8
Q

What are some causes of primary spermatogenic failure?

A

Congenital: absence of testes, cryptorchidism, genetic abnormalities.

Acquired: testicular torsion, mumps, orchitis, testicular tumour, varicocele.

Idiopathic.

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9
Q

List some genetic syndromes that may cause male infertility.

A

Klinefelter’s syndrome: 47 XXY karyotype.

Kallmann syndrome: leads to hypogonadotropic hypogonadism.

Androgen insensitivity syndrome: karyotype XY, phenotypically female.

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10
Q

What is androgen insensitivity syndrome?

A

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.

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11
Q

What is the pathophysiology of androgen insensitivity syndrome?

A

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.

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12
Q

Why do female internal organs not develop in androgen insensitivity syndrome?

A

The tests produce anti-Müllerian hormone, preventing males from developing an upper vagina, uterus, cervix and fallopian tubes.

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13
Q

Presentation of androgen insensitivity syndrome.

A

In infancy, inguinal hernias containing testes.

At puberty, with primary amenorrhoea.

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14
Q

How is androgen insensitivity syndrome managed?

A

Coordinated by a specialist MDT, involving paediatrics, gynaecology, urology, endocrinology.

Medical input involves bilateral orchidectomy, oestrogen therapy and vaginal surgery.

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15
Q

What is obstructive azoospermia?

A

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.

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16
Q

Give some causes of hypogonadism in male factor infertility.

A

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.

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17
Q

What are the

a) medications

b) lifestyle factors

c) other factors

that may lead to male factor infertility?

A

a) chemotherapy, sulfasalazine, anabolic steroids.

b) smoking, obesity, excessive alcohol, illicit drug use.

c) psychological factors leading to ejaculation disorders or erectile dysfunction.

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18
Q

What is the first line investigation for male factor infertility?

A

Semen analysis - if the first analysis is abnormal, the test should be repeated in 3 months time.

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19
Q

What are some secondary care investigations that may be considered in male factor infertility?

A
  • genetic testing
  • sperm culture
  • endocrine tests (e.g. FSH and testosterone)
  • imaging of urogenital tract
  • testicular biopsy
20
Q

How should male factor infertility be managed?

A

Lifestyle advice (weight loss, psychological stress management, smoking and alcohol cessation).

Hypogonadotropic hypogonadism - offer gonadotrophin analogues.

If obstructive azoospermia, offer surgical correction.

21
Q

What is the most common cause of female factor infertility?

A

Disorders of ovulation.

22
Q

What are the three categories of disorders of ovulation?

A

Group 1 - Hypothalamic pituitary failure (10%):

Hypogonadotrophic hypogonadism (ie. Kallmann syndrome) or hypothalamic amenorrhoea (e.g. low body weight, excessive exercise).

Group 2 - hypothalamic-pituitary-ovarian (85%):

Predominantly PCOS

Group 3 - ovarian failure (5%):

Hypergonadrotropic hypogonadism

23
Q

Give some tubal causes of female factor infertility.

A
  • PID
  • endometriosis
  • previous sterilisation
24
Q

Give some uterine causes of female factor infertility.

A
  • endometriosis
  • Asherman syndrome
  • uterine fibroids
  • cervical factors
25
Q

What can be tested to assess if female factor infertility is caused by a disorder of ovulation?

A

Mid-luteal phase progesterone, measured 7 days before expected period (ie. day 21 of a 28 day cycle).

26
Q

How should female factor infertility be investigated in primary care?

A
  • mid-luteal phase progesterone
  • chlamydia screening
  • testing for susceptibility to rubella
  • thyroid function tests
  • serum prolactin
27
Q

How can tubal occlusion be screened for?

A

Hysterosalpingography.

A small tube is inserted into the cervix through which a contrast die enters the uterine cavity and fallopian tubes, allowing the anatomy to be highlighted on X-ray.

Note examination should be done within the first 10 days of a woman’s cycle, and chlamydia screening should be done prior.

28
Q

How can female factor infertility be managed with lifestyle?

A
  • weight management (BMI <25kg/m2)
  • psychological stress management
29
Q

How can female factor infertility be medically managed?

A

Clomifene for induction of ovulation (e.g. anovulation in PCOS).

Pulsatile GnRH can induce ovulation.

Dopamine agonists may be used for ovulatory disorders that are secondary to raised prolactin.

30
Q

How can female factor infertility be surgically managed?

A
  • tubal microsurgery
  • laparoscopy
31
Q

What is Kallman syndrome?

A

A genetic condition causing hypogonadotrophic hypogonadism, resulting in the failure to start puberty.

It is associated with a . reduced or absent sense of smell.

32
Q

If a patient’s investigations reveal an anovulatory disorder, how could ovulation be induced?

A

1) Clomifene - oestrogen receptor antagonist upregulates HPA axis to cause oestrogen to rise, until LH threshold is reached.

2) Gonadotropin injections (LH, FSH, hCG) directly stimulate ovulation.

33
Q

Describe the side effects of ovulation induction.

A

Ovarian hyperstimulation syndrome (OHSS) - usually resolves within a few weeks without need for treatment:
- bloating
- pelvic tenderness
- headaches
- nausea

It can cause multiple eggs to be released, increasing risk of multiple fertilised eggs and a high-risk pregnancy.

34
Q

What are the implications of BMI on pregnancy and labour?

A

BMI ≥25kg/m2 associated with increased risk - the higher the BMI, the higher the risk.

  • pre-eclampsia
  • thrombosis
  • gestational diabetes
  • anaesthetic risk
  • miscarriage
  • prematurity
  • stillbirth
  • wound infection
35
Q

How should raised BMI in pregnancy be managed?

A

Consultant led pregnancy if BMI ≥30kg/m2 at antenatal appointment.

Encourage regular exercise and healthy diet.

Prescribe high dose folic acid (5mg) to be taken until the end of the first trimester.

36
Q

What is female genital mutilation (FGM)?

A

Any procedure resulting in the partial or total remove of the external female genitalia, for non-medical purposes.

37
Q

In what countries is FGM more prevelant?

A
  • Somalia
  • Guinea
  • Dijbouti
38
Q

Why is FGM performed?

A

Number of complex social, cultural and religious reasons, based on the mistaken belief that it will provide benefit to the girl:
- preserve virginity
- uphold family honour
- rite of passage

It is usually carried out by traditional practitioners with no formal training. Worrying trends have shown that it’s becoming increasingly common for FGM to be performed by medical professionals.

39
Q

How is FGM classified?

A

Type 1: Partial or total removal of the clitoris.

Type 2: Partial or total removal of clitoris and labia minora.

Type 3: Making of a covering seal in order to narrow the vaginal opening.

Type 4: Piercing, cutting, burning, scraping and pricking the vagina.

40
Q

What are the health benefits of FGM?

A

There are no health benefits of FGM - it only results in short and long term complications!

41
Q

What are the short-term complications of FGM?

A
  • bleeding
  • urinary retention
  • genital swelling
  • severe pain
  • infection
  • poor wound healing
42
Q

What are the long-term complications of FGM?

A
  • scarring
  • infertility
  • dyspareunia
  • impaired sexual function
  • dysmenorrhoea
  • chronic infections (HSV-2 or PID)
  • PTSD, anxiety, depression
  • obstetric complications (PPH, stillbirth)
43
Q

What are some risk factors for FGM?

A
  • family history
  • part of a community known to practice FGM
  • refuse examination or cervical screening
  • extended visits with girls to countries where FGM is practised
  • repeated urinary, menstrual or abdominal problems
44
Q

What does the Female Genital Mutilation Act (2003) mandate?

A

FGM is illegal to perform in the UK, and any HCPs who examine a patient with known FGM under the age of 18 must report the case to the police.

In adults, this should be documented in the medical records. There is no duty to report unless a risk is posed to a related child (including unborn).

45
Q

How can FGM be managed?

A
  • referral to specialist gynaecology (FGM specialist)
  • referral for psychological assessment and management
  • testing for HIV, Hep B, Hep C and sexual health screen
46
Q

Who should lead the care if a pregnant lady is found to have had FGM performed upon her?

A

Consultant-led obstetric care.