Infertility Flashcards
Define infertility
A disease of the reproductive system defined by the failure to achieve a clinical pregnancy after ≥12 months of regular unprotected sexual intercourse.
Regular = every 2-3 days
What is primary and secondary infertility?
Primary = have not had a live birth previously (includes miscarriages and still births) Secondary = have had a live birth >12 months ago
Describe the epidemiology of infertility?
Affects 1/7 couples but 50% of these conceive naturally in the 2nd year. 55% seek help - positive correlation of help seeking with socioeconomic status. Male and female infertility equally common.
What are pre-testicular causes of male infertility?
Congenital & Acquired Endocrinopathies e.g Klinefelters 47XXYY, chromosome deletion, HPG, T, PRL.
What are testicular causes of male infertility?
Cryptorchidism, Infection such as STDs, Immunological (Antisperm Abs), Vascular (Varicocoele), Trauma/Surgery, Toxins (Chemo/DXT/Drugs/Smoking)
What are post-testicular causes of male infertility?
Congenital (Absence of vas deferens in CF), Obstructive Azoospermia, Erectile Dysfunction (Retrograde Ejaculation, Mechanical Impairment, Psychological), Iatrogenic (Vasectomy)
What is cryptorchidism?
Caused when the testis doesn’t descend through inguinal canal during embryonic development
What are causes of female infertility?
Ovarian causes account for 40% of female infertility. Uterine accounts for 10%, tubular accounts for 30%, cervical accounts for 5%, pelvic accounts for 5% and 10% is unexplained.
What are ovarian and tubular causes of female infertility?
Ovarian: 1. Anovulation (Endo) 2. Corpus luteum insufficiency Tubular: 1. Infection 2. Endometriosis 3. Trauma
What are uterine, cervical and pelvic causes of female infertility?
Uterine: unfavourable endometrium 1. Chronic endometritis (TB) 2. Fibroid 3. Adhesions (Synechiae) 4. Congenital malformation Cervical: ineffective sperm penetration 1.Chronic cervicitis 2. Immunological (antisperm Ab) Pelvic: 1. Endometriosis 2. Adhesions
What is endometriosis?
The presence of functioning endometrial tissue outside the uterus. Affects 5% of women and responds to oestrogen.
What are the symptoms of endometriosis?
↑ Menstrual pain
Menstrual irregularities
Deep dyspareunia
Infertility
What is the treatment for endometriosis?
- Hormonal (eg continuous OCP, prog)
- Laparascopic ablation
- Hysterectomy
- Bilateral Salpingo-oophorectomy
What are fibroids?
Benign tumours of the myometrium. Affects 1-20% of pre-menopausal women as chances increase with age. Responds to oestrogen.
What are symptoms of fibroids?
Usually asymptomatic ↑ Menstrual pain Menstrual irregularities Deep dyspareunia Infertility
What is treatment for fibroids?
Hormonal (eg continuous OCP, prog, continuous GnRH agonists)
Hysterectomy
What is Kallmann Syndrome?
Congenital hypogonadotrophic hypogonadism - when accompanied by anosmia, is Kallmann syndrome as there is a failure of migration of GnRH neurons with olfactory fibres. Olfactory placode observed. Reproductive symptoms include: Cryptorchidism, Failure of puberty: -Lack of testicle dvlpt -Micropenis -Primary amenorrhoea Infertility
Describe causes of hypogonadotrophia
Congenital hypogonadotrophic hypogonadism with anosmia (Kallmann’s syndrome), can also be normosmic. Acquired hypogonadotrophic hypogonadism (low BMI, excess exercise, stress). Hyperprolactinaemia.
Why does hyperprolactinaemia cause hypogonadism?
Kisspeptin neurons inhibited by prolactin so GnRH not stimulated and hence, all downstream hormone levels are low. Treated with a dopamine agonist (inhibits prolactin) e.g. Cabergoline or surgery.
What is Klinefelter’s syndrome?
Multiple X + 1 Y. Symptoms are more severe if 3 or more X chromosomes present. Characterised by:
Tall stature, mildly impaired IQ, low facial hair, narrow shoulders, breast development, reduced chest hair, female type pubic hair pattern, wide hips, low bone density, small penis and testis, infertility
What history is examined when investigating male infertility?
Duration, previous children, pubertal milestones, associated symptoms (eg. T deficiency, PRL symptoms, CHH features), medical & surgical history, family history, social history, medications/drugs
What examinations are conducted when investigating male infertility?
BMI, sexual characteristics, testicular volume, epididymal hardness, presence of vas deferens, other endocrine signs, syndromic features, anosmia
What microbiology and imaging tests are conducted when investigating male infertility?
Micro: Urine test, Chlamydia swab Imaging: Scrotal US/Doppler (for varicocoele/obstruction, testicular volume) MRI Pituitary (if low LH/FSH or high PRL)
What blood tests are conducted when investigating male infertility?
LH, FSH, PRL Morning Fasting Testosterone Sex Hormone Binding Globulin (SHBG) Albumin, Iron studies Also Pituitary/Thyroid profile Karyotyping
What general and specific treatments are provided for male infertility?
General: Optimise BMI, smoking cessation, alcohol reduction/cessation
Specific:
1. Dopamine agonist for hyperPRL
2. Gonadotrophin treatment for fertility (will also increase testosterone)
3. Testosterone
(for symptoms if no fertility required – as this requires gonadotrophins)
4. Surgery
(eg. Micro Testicular Sperm Extraction (micro TESE))
What condition mimicks an early menopause?
Premature Ovarian Insufficiency. Conception can happen in 20% of cases and diagnosed by high FSH >25 iU/L. Causes include: autoimmunity, genetic (Fragile X syndrome/Turner’s syndrome), cancer therapy (chemotherapy/radiotherapy)
Describe epidemiology of polycystic ovarian syndrome
Affects 5-15% of women of reproductive age. Frequent family history. Most common endocrine disorder in women and most common cause of infertility in women.
What is the Rotterdam PCOS Diagnostic Criteria?
If 2/3 of following present:
1. Oligo/Anovulation - normally assessed by menstrual frequency and if required can be assessed by lack of progesterone rise (anovulation).
2. Clinical +/- Biochemical Hyperandrogenism
Clinical: Acne, hirsutism (Ferriman-Gallwey score), alopecia (Ludwig score)
Biochemical: Raised testosterone
3. Polycystic ovaries - ≥20 follicles OR ≥10ml either ovary on TVUS (8 MHz)
Combination of 1+2 has highest metabolic risk
What are PCOS treatments?
Oral contraceptive pill used to treat the irregular menses/amenorrhoea. Clomiphene, Letrozole and IVF used to treat infertility. Metformin can be used to treat irregular menses and increased insulin resistance which can lead to T2 diabetes. Creams/waxing/laser/anti-androgens (spironolactone) used to treat hirsutism. Endometrial cancer risk decreased through use of progesterone courses.
What are the features of Turner’s Syndrome?
Lack of second X chromosome - only one X. Characterised by: webbed neck, coarctation of aorta, short 4th metacarpal, brown nevi, amenorrhoea + underdeveloped reproductive tract, poor breast development + wide spaced nipples, short stature, low hairline. Hypergonadotrophic hypogonadism.
What history is investigated when checking for Turner’s syndrome?
Duration, previous children, pubertal milestones, breastfeeding?
Menstrual History: oligomenorrhoea or 1/20 amenorrhoea, associated symptoms (eg. E deficiency, PRL symptoms, CHH features), medical & surgical history, family history, social history, medications/drugs
What examinations are conducted when checking for Turner’s syndrome?
BMI, sexual characteristics, hyperandrogenism signs, pelvic examination, other endocrine signs, syndromic features, anosmia
What blood tests are conducted when checking for Turner’s syndrome?
LH, FSH, PRL Oestradiol, Androgens Foll phase 17-OHP, Mid- Luteal Prog Sex Hormone Binding Globulin (SHBG) Albumin, Iron studies Also Pituitary/Thyroid profile Karyotyping
What microbiology and imaging tests are conducted when checking for Turner’s syndrome?
Micro: Urine + Chlamydia
Imaging: US (transvaginal), Hysterosalpingogram, MRI Pituitary (if low LH/FSH or high PRL)
Pregnancy test also done
