Primary ovarian insufficiency Flashcards
Define primary ovarian insufficiency
- Oligo- or amenorrhoea
- Oestrogen deficiency symptoms
- FSH within menopausal range
- Age <40 years
List the causes of primary ovarian insufficiency:
Primary hypogonadism without follicle depletion:
- Steroidogenic gene defects e.g. 17-hydroxylase deficiency/NCCAH, aromatase gene mutations.
- Gonadotrophic receptor function e.g. McCune Albright syndrome, FSH receptor mutations.
- Intra-ovarian modulators: BMP15
Increased follicle depletion:
- X-related chromosome disorders: Turner syndrome (streak gonads), Fragile X syndrome.
- Ovarian toxins: galactosemia (toxic effect of galactose metabolites); radiation and chemotherapy; mumps, CMV
- Autoimmune
What is the prevalence of primary ovarian insufficiency?
1%
What is the clinical presentation of primary ovarian insufficiency?
Oligo- or amenorrhoea. Oestrogen deficiency: - Hot flushes - Vaginal dryness - Dyspareunia - Bone loss and osteoporosis.
List the differentials for primary ovarian insufficiency:
- Hashimoto’s thyroiditis or Grave’s disease
- Autoimmune Addison’s disease
- Autoimmune oophoritis
- Turner syndrome
What investigations would you order to confirm a diagnosis of primary ovarian insufficiency?
- FSH and oestradiol level: day 3 of cycle or random if amenorrhoeic.
- Pregnancy test
- Karyotype
- Prolactin level
- TSH, TPO antibodies
- Fragile X premutation testing
- Adrenal cortical and 21-hydroxylase antibodies
What is the diagnostic criteria for primary ovarian insufficiency?
- Oligo- or amenorrhoea for at least 4 months.
- FSH level >25 on two occasions at least 4 weeks apart.
Outline your management strategy for a woman with primary ovarian insufficiency:
- Hormone replacement therapy.
- Osteoporosis prevention.
- Cardiovascular disease prevention.
- Contraception
- Fertility
- Obstetrics
- Psychology/mental health support
- Physician input if suspicious of autoimmune disease.
- Gonadectomy if Y chromosome material present.
- Genetics counselling if Fragile X premutation positive.
Outline hormone replacement management for a woman with primary ovarian insufficiency:
- Duration of HRT: early 50s.
- COCP a good option. Otherwise oestradiol + progesterone or Mirena.
- Benefits outweigh risks: reduces cardiovascular risk, osteoporosis, urogenital atrophy; maintains sexual function and quality of life.
- Check no contraindications for HRT.
Why do women with primary ovarian insufficiency require contraception?
50-75% have intermittent ovarian function and therefore at risk of becoming pregnant.
Outline how you would reduce osteoporosis risk for a woman with primary ovarian insufficiency:
- HRT
- Avoid smoking
- Weight bearing exercises
- Maintain normal body weight
- Calcium and vitamin D supplementation.
- Reduce alcohol intake
Outline how you would reduce cardiovascular risk for a woman with primary ovarian insufficiency:
- HRT
- Cardiovascular risk screening annually.
- Diet
- Exercise
- Maintain healthy body weight
- Avoid smoking
Outline the fertility options available to a woman with primary ovarian insufficiency:
- IVF with oocyte donor (cumulative chance of pregnancy 90% after 3 cycles)
- Embryo donation
- Adoption
Note: fertility preservation is not an option.
Outline how you would maintain sexual function for a woman with primary ovarian insufficiency:
- Topical vaginal oestrogen.
- Testosterone for libido
- Lubrication
What % of women with primary ovarian insufficiency can ovulate/conceive and have a normal pregnancy?
5-10%
