Menstrual disorders Flashcards
What is amenorrhoea?
- The absence or cessation of menstruation
What is primary amenorrhoea?
- Failure to establish menstruation
- by 15 years of age in girls with normal secondary sexual characteristics
- Or by 13 years of age in girls with no secondary sexual characteristics
What is secondary amenorrhoea?
- Cessation of menstruation
- for 3-6 months in women with previously normal and regular meses
- or for 6-12 months in women with previous oligomenorrhoea
- primary amenorrhoea is rarer
Why is there an overlap in presentation of primary and secondary amenorrhoea?
- Secondary causes may present as primary if they happen early enough in life
Outline how you would investigate primary amenorrhoea
- If no pubertal development, investigate as for delayed puberty
- If normal pubertal development, exclude genital tract abnormalities and investigate as for secondary amenorrhoea
- If incongruous pubertal development, exclude chromosomal abnormalities and causes of hyperandrogenism
What is the most common cause of primary amenorrhoea?
- Genitourinary malformations:
- imperforate hymen
- a vaginal septum
- absent vagina (logitudinal or transverse absent uterus)
What is an imperforate hymen?
- Hymen without an opening completely obsrtucts vagina
- Caused by failure of hymen to perforate during fetal development
- Menstrual blood accumulates in vagina and uterus
What are the possible causes of primary amenorrhoea with no secondary sexual characteristics?
- An underlying chromosomal or hormonal cause
- E.g. Turner syndrome or hypothalamic-pituitary dysfunction
Outline Turners syndrome
- 45XO (missing an X chromosome)
- 1/2500 live female births
- Ovary doesn’t complete normal development - streak ovaries
- Low estradiol
- High FSH and LH
- No oestrogen = no pubertal changes
What happens if there’s no GnRH produced by the hypothalamus?
- No pituitary stimulation
- No LH/FSH
- No ovarian or uterine function
- No oestrogen
- No secondary sexual development
Which diseases in the hypothalamus and pituitary prevent secondary sexual characteristics from developing?
- Isolated GnRH deficiency
- Idiopathic hypogonadotropic hypogonadism
- Autosomal dominant or X-linked autosomal recessive
- Poor development of secondary sexual characteristics
- With anosmia = Kallman syndrome - Constitutional delay of puberty
What is androgen insensitivity syndrome?
- X-linked recessive disorder
- Normal female external genitalia but 46XY
- Have testes but these are undescended (excised after puberty)
- Absence of upper vagina, uterus, and fallopian tubes
- Androgen receptor fails so resistant to testosterone
- Testosterone converted to oestrogen
How does androgen insensitivity syndrome lead to a female phenotype in spite of the XY chromosome?
- XY causes testes to grow
- Anti-mullerian hormone and testosterone produced
- Mullerian structures regress
- Androgen receptor fails
- Absence of virilization
- Testosterone converts to oestrogen
- Female phenotype
What physiological conditions can cause secondary amenorrhoea?
- Pregnancy
- Breastfeeding
- Menopause
What are some ovarian and uterine causes of secondary amenorrhoea?
- Scarring due to cervical stenosis or Asherman syndrome (intrauterine adhesions)
- Primary ovarian insufficiency (premature menopause) - depletion of oocytes before age 40. No oestrogen, no inhibin = high FSH
- PCOS
What is the most common cause of oligomenorrhoea?
- PCOS (causes up to 50% of oligomenorrhoea)
- Also causes 20% of amenorrhoea
What is the triad of PCOS?
- Menstrual irregularity
- Androgen excess
- Obesity
How is PCOS diagnosed?
- Infrequent or no ovulation
- Clinical and/or biochemical signs of hyperandrogenism (hirsutism, acne, elevated levels of testosterone)
- Polycystic ovaries on ultrasound
How is PCOS managed?
- Lifestyle advice e.g. weight loss
- Screening for type 2 diabetes mellitus
- Combined pill or cyclical progesterone
Other than oligomenorrhoea, what else can PCOS lead to?
- Raised insulin resistance
- This combined with obesity can result in type 2 diabetes