13) Gynaecological problems - Amenorrhoea Flashcards
(86 cards)
1
Q
Definition of primary amenorrhoea
A
Failure of menstruation by age 16 years in the presence of normal secondary sexual characteristics, or 14 years in the absence of any other signs of puberty.
2
Q
Definition of secondary amenorrhoea
A
Absent periods for at least 6 months in a woman who has previously had regular periods, or 12 months if previously oligomenorrhoea (bleeding < 6 weekly).
3
Q
Prevalence of amenorrhoea
A
1%
4
Q
Prevalence of primary amenorrhoea
A
0.3%
5
Q
Tanner stages of pubertal development
A
I - Prepubertal breasts & pubic hair II - Small buds, few hairs III - Large buds, central hair IV - Mounds, triangle hair V - Fully formed, adult hair distribution
6
Q
Most common causes of secondary amenorrhoea
A
40% ovarian (PCOS)
35% hypothalamic
5% uterine
7
Q
Most common causes of primary amenorrhoea
A
45% gonadal dysgenesis
15% Mullerian genesis
15% Constitutional
7% PCOS
8
Q
Prevalence of microprolactinomas
A
10%
9
Q
Treatment of macroadenomas
A
DA agonists (bromocriptine, cabergoline, quinagolide), surgical or pituitary irradiation
10
Q
What percentage of patients with pituitary macro adenomas achieve pregnancy with DA agonists?
A
80%
11
Q
Proportion of pituitary adenomas that grow in pregnancy?
A
<2% microadenomas
15% macroadenomas
12
Q
Most common sex chromosome aneuploidy in women
A
Turner syndrome
13
Q
Most common genetic cause sub fertility
A
Klinefelter’s syndrome (2nd most common is Turner’s)
14
Q
Incidence of Turner’s syndrome in live births
A
1 in 2500
15
Q
Proportion of Turner’s babies which miscarry
A
> 99%
16
Q
What proportion of miscarriages are found to have Turner’s?
A
10%
17
Q
How is the risk of Turner’s syndrome related to maternal age?
A
Unrelated
18
Q
Features of Turner’s syndrome
A
Short stature Hearing problems Wide spaced nipples Hypertelorism, ptosis, retrognathia/micrognathia Webbed neck Hypothyroidism Wide carrying angle Cardiac malformations - coarctation of aorta, bicuspid aortic valve, conduction abnormalities Premature ovarian failure Renal abnormalities Lymphoedema
19
Q
Effect of Turner’s syndrome on ovaries/uterus
A
- Turner’s will usually have gonadal dysgenesis and primary amenorrhoea. Mosaics may have spontaneous menarche but will usually have premature ovarian failure.
- Uterine development depends on ovarian function therefore Turner’s likely to have prepubertal uterus unless Mosaic with spontaneous menarche in which case uterus likely normal.
20
Q
Percentage of TS patients with Aorta >20mm
A
1/3
21
Q
Percentage of TS patients with bicuspid aortic valve
A
30%
22
Q
Percentage of TS patients with coarctation of aorta
A
12%
23
Q
Percentage of TS patients with hypertension
A
50% adults
24
Q
Obstetric and neonatal outcomes in TS
A
Miscarriage, GDM, PIH, PTB, IUGR
25
Risk of aortic dissection in TS in pregnancy
1%
26
When is the risk of aortic dissection in TS in pregnancy highest?
3rd trimester and early postpartum
27
When is pregnancy CI in TS patients?
Aorta diameter >35mm or >25mm/m2
Aortic surgery
Uncontrolled hypertension
28
Rate of CS in TS?
50%
29
What percentage of patients with TS conceive naturally and have live births?
8%
30
What is the miscarriage rate after natural conception?
40%
31
Can women pass on TS to their daughters?
Not if monosomy or mosaic, but if abnormal X chromosome then yes.
32
Pregnancy rate after oocyte freezing in TS
5% per frozen oocyte
33
Pregnancy rate with donor oocytes
28%
34
What is meant by gestational surrogacy?
Surrogate is not genetically related to the child.
35
What is meant by straight surrogacy?
Surrogate also acts as oocyte provider.
36
Management of TS in pregnancy
Regular echoes +/- MRI
Consider regular beta blocker
Treat hypertension
37
Average age of menarche in UK
13
38
What percentage of girls will have gone through menarche by 14.5?
95%
39
How are sex steroids used for pubertal induction?
Initially with transdermal oestrogen. Ideally you could start these age 10 and give for 3 years unopposed before triggering withdrawal bleed with progestogen. If pt presents at a later age with delayed puberty then give 6-12m of oestrogen before progestogen. If using GH then wait until age 12 before starting oestrogen so as not to stunt growth.
40
Most common sex chromosome abnormality
Klinefelters
41
Genotype in Klinefelters
XXY
42
Incidence of Klinefelters
1 in 500-1000
43
What is the problem in Klinefelter's?
Male genotype, gonadal dysgenesis therefore hypergonadotrophic hypogonadism.
44
Features of androgen insensitivity syndrome
```
Genotype: XY
Gonads: Testes
Appearance: Female
- No uterus, cervix or proximal vaginal (AMH has suppressed them)
- Distal vagina variable in length
- Breast development
- Sparse pubic hair
```
Partial AIS may have a male-like phenotype with micropenis, severe hypospadias and bifid scrotum, or may be more on the female end with clitoromegaly.
Mild AIS can present with subfertility in men without genital abnormalities.
45
Inheritance of androgen insensitivity syndrome
X linked recessive
| 30% spontaneous mutations
46
Management of AIS
- MDT
- Removal of gonads
- Oestrogen only HRT +/- testosterone
- Vaginal dilators
47
Incidence of Mullerian abnormalities
2-4%
48
Most common Mullerian abnormalities
90% septate uteri, 5% bicornuate uterus, 5% didelphid uterus.
49
Incidence of MRKH
1 in 5000
50
Features of MRKH
- Primary amenorrhoea (absence of upper 2/3 vagina and uterus)
- Normal 2ndary sexual characteristics
- 40% renal tract abnormalities (renal agenesis, ectopic kidney, horseshoe kidney, ectopic ureter)
- Spinal abnormalities (cervical vertebral fusion, radial aplasia, absent thumb, scoliosis)
- Long limb abnormalities
- 3% hearing loss
51
Management of MRKH
95% can achieve functional intercourse with dilators and psychological support.
Surgical options - Venchietti procedure (olive bead) or Davydov procedure (neovagina from peritoneum)
52
Incidence of imperforate hymen
1 in 1000
53
Presentation of imperforate hymen
Amenorrhoea with blue membrane
54
Incidence of transverse vaginal septum
1 in 30,000-1 in 50,000
55
Position of transverse vaginal septum
45% Upper
35% Middle
20% Lower
56
Pregnancy rates after treatment of transverse vaginal septum
20% Upper
40% Middle
100% Lower
57
When do you need a CS after transverse septum surgery?
If upper or middle 1/3
58
Definition of premature ovarian failure
Menopause < 40 years
59
Diagnosis of POF
Amenorrhoea >4 months and two FSH level > 30 (taken at least 1 month apart)
60
Incidence of POF
1%
61
Main cause of POF
Idiopathic 85-90%
62
Other causes of POF
Genetic:
- Turner's
- Fragile X premutation
- Trisomy X
- FSH/LH receptor mutations
- Other rare stuff!
Iatrogenic:
- Chemo/radio/surgical
Autoimmune:
- Addison's
- Hypothyroid
- Type 1 DM
- Pernicious anaemia
- Myasthenia gravis
63
What percentage of childhood cancer survivors experience POF?
8%
64
Which factors in treatment of childhood cancers increase risk of POF?
Radiotherapy and alkylating agents
65
What percentage of people with POF have a family history?
15-30%
66
What percentage of people with POF will have osteopenia?
50%
67
What percentage of people with POF will conceive spontaneously?
5-10%
68
What is meant by early ovarian ageing?
Asymptomatic precursor to early menopause at which there is a low ovarian reserve at a young age in an asymptomatic woman with regular menses.
69
Incidence of early ovarian ageing
10%
70
What is meant by early menopause?
Menopause < 45 years
71
Incidence of early menopause
10%
72
What percentage of people presenting with sub fertility will have EOA?
20%
73
What is the critical threshold of follicles for menopause to occur?
1000
74
What happens in follicular process towards menopause?
Increased FSH --> advanced follicle recruitment --> shorter cycles, multifollicular development and accelerated rate of follicle loss.
75
Live birth rates after ART in women <35y with EOA
17-29%
76
What is Fragile X syndrome the most common cause of?
INHERITED learning difficulty
| KNOWN cause of autism
77
Inheritance of Fragile X syndrome
X linked DOMINANT
78
Incidence of FXS
1 in 4000 men, 1 in 8000 women
79
Mutation in FXS
FMR-1
80
Type of mutation in FXS
Trinucleotide repeat which undergoes expansion when passed on by female (stable when passed on by male).
Common class includes 6-44 repeats and is stable & normal.
45-55 repeats is normal phenotype.
55-200 repeats is permutation which is unstable.
>200 repeats is the full mutation
81
Clinical features of FXS
```
Developmental delay
Epilepsy (20%)
Autism (25%)/ADHD
Mitral valve prolapse
Recurrent ear infections
Strabismus (cross-eyed)
Long face
Large ears
High broad forehead
Large testes after puberty
Connective tissue problems
```
82
What percentage of women with the full mutation will be symptomatic?
50% (due to lyonisation)
83
What are the fertility implications of FXS?
Males with FXS have sperm containing the permutation but usually don't reproduce.
Women with FXS are at risk of transmitting full mutation.
Women with the premutation are at increased risk of POF.
84
What is Fragile X tremor ataxia syndrome?
Neurodegenerative disorder affecting 30% of male carriers of FX premutation
85
What percentage of female carriers of fragile X premutation will have POF?
30%
86
If you have POF, what is your risk of carrying fragile X premutation?
2-4% (8-15% if there is a family history)
