Gynae: Menstrual Disorders Flashcards

1
Q

MUST GO OVER MENSTRUAL CYCLE FROM SEM 3

A
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2
Q

What 4 parameters are used to describe the menstrual cycle and what are the normal parameters?

A
  • Frequency (referring to length of menstrual cycle)
  • Regularity (referring to variation in length of menstrual cycle)
  • Duration of flow (how many days bleeding for)
  • Volume
    • Objective (quantity in mLs- on average lose 40mL of blood)
    • Subjective (impact on woman’s physical, social, emotional and/or quality of life)
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3
Q

What do we mean by abnormal uterine bleeding?

A

Broad term that describes irregularities in menstrual cycle; these can abnormalities in frequency, duration, regularity of cycle length and volume of menses.

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4
Q

What does oligomenorrhea mean?

A

Irregular periods with intervals between menstrual cycles of more than 35 days and/or less than 9 periods per year

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5
Q

State some potential causes of oligomenorrhoea

A
  • Extremes of reproductive age (early periods or perimenopause)
  • PCOS
  • Physiological stress e.g. excessive exercise, low body weight, chronic disease, psychosocial factors
  • Medications
    • Progesterone only contraception
    • Antidepressants
    • Antipsychotics
  • Hormonal imbalances
    • Thyroid abnormalities
    • High prolactin
    • Cushing’s syndrome
    • Diabetes
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6
Q

Explain why high prolactin can cause oligomenorrhea

A
  • Prolactin inhibits GnRH release from hypothalamus
  • Decreased GnRH decreases FSH/LH secretion from anterior pituitary
  • Decreased oestrogen production by ovaries
  • No oestrogen surge, no ovulation
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7
Q

Explain what menstrual disturbances usually occur in hypothyroid and hyperthyroid women

A

Both hypothyroid and hyperthyroid women have been reported to have a greater prevalence of menstrual disturbances compared with euthyroid women. Specifically:

  • Hypothyroid women are more likely to experience oligomenorrhea and menorrhagia
  • Hyperthyroid women are more likely to experience hypomenorrhea compared with euthyroid women
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8
Q

Explain why hypothyroidism can lead to oligomenorrhoea

A
  • Low T3 & T4 feed back to hypothalamus to increase TRH
  • TRH increases TSH secretion but also increases prolactin secretion from AP
  • Prolactin inhibits GnRH
  • Less FSH and LH
  • Less oestrogen
  • Irregular ovulation or anovulation
  • Oligomenorrhoea or amenorrhoea
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9
Q

What investigations would you consider for someone with oligomenorrhoea?

A
  • Pregnancy test
  • Blood tests
    • TFTs
    • Prolactin
    • FSH, LH, testosterone, SHBG, oestradiol
  • Ultrasound pelvis
  • Progesterone challenge test
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10
Q

Explain how a progesterone challenge works

A

Give oral progesterone and see if elicits a withdrawal bleed

  • A bleed suggests there are adequate levels of oestrogen but pt not ovulating
  • No bleeds means there could be very low levels of oestrogen or outflow obstruction
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11
Q

What would the following hormone levels be like in hypothalamic, prolactinoma, PCOS and POF causes of oligomenorrhoea or amenorrhoea

A
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12
Q

Discuss the management of oligomenorrhoea

A

Management can be split into different categories:

  • Regulating periods:
    • COCP
    • IUS
  • Hormone replacement
    • E.g. if POF should have cyclical hormone replacement with oestrogen (and progesterone if have uterus)
    • Calcium & vit D following bone density scan
  • Symptom control
    • Excessive hair growth PCOS: certain COCPs e.g. Yasmin
    • Acne treatment in PCOS: e.g. benzoyl peroxide, retinoids etc….
  • Lifestyle advice
    • If excessive exercise or eating disorders
    • Some women with PCOS need support with healthy lifestyle (nutrition & exercise). May benefit from orlistat
  • Treat underlying disorder
    • Hypothyroidism → levothyroxine
    • Hyperthyroidism → carbimazole, radioactive iodine etc..
  • Improving fertility
    • Clomifene (stimulate ovulation)
    • Metformin can be used in PCOS to induce ovulation & treat insulin resistance
    • IVF
  • Surgery
    • Tx for pituitary tumours & genital tract abnormalities
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13
Q

What does hypomenorrhea mean?

A

Very light, sometimes scanty, periods

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14
Q

What is intermenstrual bleeding?

It is a _________?

A
  • IMB is any bleeding that occurs between menstrual periods
  • Red flag for cervical and other gynaecological cancers (although other causes more common)
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15
Q

State some potential causes of intermenstrual bleeding

A
  • Hormonal contraception
  • Cervical ectropion
  • Cervical polyps
  • Cervical cancer
  • Endometrial polyps
  • Endometrial cancer
  • Vaginal pathology e.g. cancer
  • Pregnancy
  • Ovulation can cause spotting in some women
  • Medications
    • SSRIs
    • Anticoagulants
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16
Q

What does dysmenorrhoea mean?

A

Painful periods

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17
Q

State some potential causes of dysmenorrhoea

A
  • Primary dysmenorrhoea (no underlying pathology)
  • Endometriosis
  • Adenomyosis
  • Fibroids
  • Pelvic inflammatory disease
  • Copper coil (IUD)
  • Cervical cancer
  • Ovarian cancer
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18
Q

What does metrorrhagia mean?

A

Menstruation at irregular intervals/variation in cycle length of more than 7/9 days (dependent on source)

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19
Q

What is meant by primary amenorrhoea?

A

Primary amenorrhoea is the failure to establish menstruation by 15 years of age in girls with normal secondary sexual characteristics (such as breast development), or by 13 years of age in girls with no secondary sexual characteristics.

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20
Q

State some potential causes of primary amenorrhoea, categorise into:

  • Hypogonadotropic hypogonadism
  • Hypergonadotropic hypogonadism
  • Structural disorders
  • Other hormonal disorders
A

Hypogonadotropic hypogonadism (abnormal functioning of hypothalamus or pituitary leading to deficiency of GnRH and/or LH/FSH which leads to deficiency of oestrogen):

  • Constitutional delay in growth & development
  • Kallman syndrome
  • Hypothyroidism
  • Hyperprolactinaemia
  • Chronic conditions e.g. CF, IBD
  • Excessive exercise or dieting
  • Growth hormone deficiency
  • Damage to hypothalamus or pituitary e.g. previous radiotherapy or surgery

Hypergonadotropic hypogonadism (abnormal functioning of gonads in which gonads fail to respond to gonadotrophins):

  • Turner’s syndrome
  • Congenital absence of ovaries
  • Previous damage to ovaries (e.g. cancers, infection)

Structural disorders

  • Imperforate hymen
  • Transverse vaginal septum
  • Vaginal agenesis
  • Absent uterus
  • FGM

(Mayer-Rokitansky-Kuster-Hauser syndrome – characterised by agenesis of the Mullerian-duct system in varying degrees. This translates to congenital absence of the uterus and upper two thirds of the vagina and therefore a cause of primary amenorrhoea)

Other hormone disorders

  • Complete androgen insensitivity (46XY but defect in androgen receptor)
  • Congenital adrenal hyperplasia

***More in menstrual disorders FCs

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21
Q

What is Kallman syndrome?

A

Kallmann syndrome is a condition characterized by delayed or absent puberty and a reduced or absent sense of smell (anosmia)

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22
Q

For congenital adrenal hyperplasia, discuss:

  • What it is
  • Inheritance pattern
  • Pathophysiology
  • Presentation in severe cases (focus on female only)
  • Presentation in mild cases (focus on female only)
A
  • Congenital deficiency in 21-hydroxylase enzyme (in small number of cases it is a deficiency of 11-beta-hydroxylase)
  • Autosomal recessive
  • 21-hydroxylase converts progesterone into aldosterone & cortisol. Deficiency of enzyme means there is extra progesterone in body that cannot be converted into aldosterone or cortisol hence it gets converted into testosterone (as progesterone is also used to create testosterone but this conversion doesn’t require enzyme 21-hydroxylase). Consequently, pt has low aldosterone, low cortisol & high testosterone
  • Presentation in severe cases:
    • Female pts have ambiguous genitalia & enlarged clitoris
    • Biochemical abnormalities such as hyponatraemia, hyperkalaemia, hypoglycaemia which leads to:
      • Poor feeding
      • Vomiting
      • Dehydration
      • Arrhythmias
  • Presentation in mild cases:
    • Tall for their age
    • Facial hair
    • Absent periods
    • Deep voice
    • Early puberty
    • Hyperpigmentation (increased ACTH in response to low cortisol; MSH is biproduct of ACTH production)

**SEE PAEDS ENDOCRINOLOGY FC FOR MORE

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23
Q

For complete androgen insensitivity syndrome, discuss:

  • Inheritance pattern
  • What it is
  • Genotype & phenotype
  • Presentation
A
  • X-linked recessive
  • Defect in androgen receptor so individual insensitive to testosterone
  • 46XY but with female phenotype (female external genitalia, breast tissue)
    • Absence of upper vagina, uterus, fallopian tubes, ovaries
    • Testes in abdomen or inguinal canal
  • Present with absent periods but with have female secondary sexual characteristics due to testosterone aromatising to oestrogen
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24
Q

For Turner’s syndrome, discuss:

  • Genotype
  • Presentation
A
  • 45XO (missing a sex chromosome)
  • Presentation:
    • Late or incomplete puberty
    • Short stature
    • Webbed neck
    • Broad/shield chest with widely spaced nipples
    • High arching palate
    • Cubitus valgus
    • Most women are infertile

*SEE PAEDS DEVELOPMENT/ENDOCRINOLOGY FC FOR MORE INFO

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25
Q

What do we mean by imperforate hymen?

A

Hymen= thin layer of tissue located at opening of vagina

Lots of different types of hymen, but imperforate means there is not hole(s)/gap(s) in hymen so blood is unable to pass out of vagina during menstruation (lead to haematocolpos)

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26
Q

What do we mean by transverse vaginal septum?

A

Horizontal “wall” of tissue that has formed during embryologic development and essentially creates a blockage of the vagina (repro notes say due to failure of fusion of Mullerian ducts & urogenital sinus)

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27
Q

Discuss the threshold for investigations in pts presenting with primary amenorrhoea and discus what you would do prior to any investigations

A

Threshold is based on definition of primary amenorrhoea (and only investigate once fulfil this definition):

  • No evidence of pubertal changes by 13yrs
  • Some evidence of puberty/secondary sexual characteristics but no menses by 15yrs

Prior to any investigations:

  • Detailed hx: general health, development, FH, diet, lifestyle
  • Examination: height, weight, tanner stage, features of underlying conditions
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28
Q

What investigations would you consider for someone with primary amenorrhoea? For each explain why

A

Initial investigations to look for underlying medical conditions:

  • FBC: anaemia
  • Ferritin: anaemia
  • U&E: CKD
  • Anti-TTG and anti-EMA: coeliac disease

Hormonal blood tests

  • FSH & LH: determine if hypergonadotropic or hypogonadotropic
  • TFTs: check thyroid function as hypothyroid can cause amenorrhoea
  • IGF-1: screen for GH deficiency
  • Prolactin: hyperprolactinaemia
  • Testosterone: raised in CAH, androgen insensitivity syndrome, PCOS

Genetic testing with microarray e.g. for Turners

Imaging

  • X-ray wrist: assess bone age to diagnose constitutional delay in growth & development
  • Pelvic ultrasound: assess ovaries & other pelvic organs
  • MRI brain: pituitary pathology, olfactory bulbs in Kallman syndrome
29
Q

Discuss the potential management of primary amenorrhoea

A

Management centred around establishing and treating underlying cause, examples include:

  • Constitutional delay in growth & development: reassurance & observation
  • Excessive stress, excessive exercise or dieting, low body weight: healthy weight gain, reduce stress, CBT
  • Hypothyroidism: levothyroxine
  • In some hypogonadotropic hypogonadism (e.g. hypopituitarism, Kallman syndrome): if pregnancy wanted pulsatile GnRH to induce ovulation & menstruation or if pregnancy not wanted then replacement sex hormones in form of COCP to induce regular menstruation & prevent oestrogen deficiency symptoms
  • In hypergonadotropic hypogonadism: replacement of hormones e.g. via COCP
  • Genital tract abnormalities: surgery
30
Q

What is meant by secondary amenorrhoea?

A

Secondary amenorrhoea is defined as the cessation of menstruation for 3–6 months in women with previously normal and regular menses (ZtoF says 3 months) or for 6–12 months in women with previous oligomenorrhoea.

31
Q

State some potential causes of secondary amenorrhoea

A
  • Pregnancy (most common)
  • Menopause
  • PCOS
  • Hormonal contraception e.g. IUS, POP
  • Premature ovarian insufficiency
  • Thyroid abnormalities (hyper or hypo)
  • Pituitary pathology
    • Excessive prolactin (most commonly due to prolactinoma)
    • Pituitary failure (trauma, radiotherapy, surgery, Sheehan syndrome)
  • Cushing’ syndrome
  • Physiological stress due to e.g. excessive exercise, low body weight, chronic disease, psychosocial factors/stress
  • Post-contraception amenorrhoea
  • Asherman’s syndrome
32
Q

What is Sheehan syndrome?

A

Sheehan’s syndrome/postpartum pituitary gland necrosis is hypopituitarism (decreased functioning of the pituitary gland), caused by ischemic necrosis due to blood loss and hypovolemic shock during and after childbirth

33
Q

What is Asherman’s sydnrome?

A

Asherman’s Syndrome is an acquired uterine condition, characterized by the formation of adhesions (scar tissue) inside the uterus most commonly after surgical intervention (most commonly dilation & curettage but may also be following C-section, removal of fibroids etc…). Infections could lead to Asherman’s syndrome but more likely to if in contribution with surgery for infections.

34
Q

Discuss what investigations may be done for secondary amenorrhoea (for each explain why)

A

Bedside

  • Pregnancy test

Hormonal blood tests

  • LH & FSH: indicate underlying pathology e.g. premature ovarian insufficiency, PCOS, menopause
  • Prolactin: hyperprolactinaemia
  • TSH: thyroid pathology
  • Testosterone: raised in PCOS, androgen insensitivity syndrome, CAH

Imaging

  • Pelvic ultrasound: PCOS, Asherman’s syndrome
35
Q

CT or MRI scans of brain are used to assess for pituitary tumours; discus whether pituitary adenomas commonly appear on initial scan

A

Pituitary adenomas are often microadenomas (<10mm) hence often will not appear on initial scan hence follow up scans are required

36
Q

Discuss the management of secondary amenorrhoea

A

Like primary amenorrhoea, management centred around establishing & treating underlying cause- options include:

  • Regulate periods & keep endometrium thin: COCP or POP
  • Excessive exercise, diet, stress: lifestyle advice, healthy weight gain, CBT
  • Hypothyroid: levothyroxine
  • Hyperprolactinaemia: often no treatment required for hyperprolactinaemia but can give dopamine agonists e.g. bromocriptine, cabergoline
  • In some hypogonadotropic hypogonadism (e.g. hypopituitarism, Kallman syndrome): if pregnancy wanted pulsatile GnRH to induce ovulation & menstruation or if pregnancy not wanted then replacement sex hormones in form of COCP
  • Premature ovarian insufficiency: HRT- cyclical hormone replacement therapy with oestrogen (and progesterone if they have a uterus)
  • Menopause: see separate FC for more in depth answers
  • Pituitary tumours, genital tract abnormalities etc…: surgery
37
Q

What are patients with amenorrhoea with low oestrogen levels at risk of and why?

A

Osteoporosis as oestrogens are protective against osteoporosis (inhibit osteoclasts, prolong lifespan osteoblasts)

38
Q

Patients with amenorrhoea are at risk of osteoporosis, discuss how this risk should be managed

A

Patients with amenorrhoea associated with low oestrogen levels are at risk increased risk of osteoporosis. Where the amenorrhoea lasts more than 12 months, treatment is indicated to reduce the risk of osteoporosis:

  • Ensure adequate vitamin D and calcium intake
  • Hormone replacement therapy or the combined oral contraceptive pill
39
Q

What does menorrhagia mean?

A

Heavy menstrual bleeding

40
Q

State some potential causes of menorrhagia

A
  • Dysfunctional uterine bleeding (no identifiable cause)
  • Extremes reproductive age
  • Fibroids
  • Endometriosis
  • Adenomyosis
  • Pelvic inflammatory disease
  • PCOS
  • Endometrial hyperplasia
  • Endometrial cancer
  • Contraceptives- particularly copper coil/IUD
  • Anticoagulant medications
  • Bleeding disorders
  • Endocrine disorders:
    • Diabetes
    • Hypothyroidism
  • Connective tissue disorders
41
Q

What examination should you perform on someone presenting with heavy menstrual bleeding?

A
  • Pelvic examination with a speculum
  • Bimanual pelvic examination
42
Q

What investigations would you consider for a patient with menorrhagia?

A

Bedside

  • Swabs: if evidence of infection

Bloods

  • FBC: check anaemia
  • Ferritin: check Fe deficiency
  • Coagulation screen: if FH or periods always been heavy so suspect coagulation problem
  • TFTs: check hypothyroidism

Imaging

  • Pelvic AND transvaginal ultrasound: assess for fibroids, adenomyosis
  • Hysteroscopy: typically performed when US indicates pathology or is inconclusive
43
Q

Discuss the management of menorrhagia

A

First must establish and treat underlying cause if known e.g. if IUD causing menorrhagia, remove it. Pharmacologic options depends on whether or not patient wants contraception:

Pharmacological if want contraception:

  • Mirena coil (LNG-IUS)
  • COCP
  • Cyclical progesterone’s (e.g. norethisterone 5mg 3x daily for days 5-26) **CHECK IF ACTS AS CONTRACEPTION AS TEACH ME OB&GYN and ZtF ARE DIFFERENT

Pharmacological if don’t want contraception:

  • If no associated pain= tranexamic acid (antifibrinolytic that reduces bleeding). Take only during menses.
  • If associated pain= mefenamic acid (NSAID that reduces bleeding & pain). Take only during menses.

Options in secondary care

  • Endometrial ablation (destroy endometrial tissue. Used to be done via hysteroscopy & direct destruction but can now do via non-hysteroscopic techniques e.g. balloon thermal ablation)
  • Hysterectomy
44
Q

When should you refer a woman with menorrhagia to secondary care?

A
  • Suspected cancer
  • Treatment in primary care unsuccessful
  • Symptoms severe
  • Large fibroids (>3cm)
45
Q

What is PMS?

A

Psychological, emotional & physical symptoms that occur during luteal phase of menstrual cycle (most commonly in days prior to onset menses).

Most women experience some PMS symptoms; it becomes clinically relevant when its have an impact on woman’s functioning and QoL

46
Q

State some times/periods in woman’s life in which PMS symptoms are not present

A
  • Before menarche
  • During pregnancy
  • After menopause
47
Q

Discuss the pathophysiology of PMS

A
  • Exact mechanism unknown
  • Thought to be due to fluctuation in oestrogen & progesterone
  • May be an increased sensitivity to progesterone or interaction between sex hormones & neurotransmitters
48
Q

When do PMS symptoms occur and when do they resolve?

A
  • Occur few days before menses
  • Resolve once menstruation starts

NOTE: these symptoms can occur in the absence of menstruation after a hysterectomy, endometrial ablation or on the Mirena coil, as the ovaries continue to function and the hormonal cycle continues. They can also occur in response to the combined contraceptive pill or cyclical hormone replacement therapy containing progesterone, and this is described as progesterone-induced premenstrual disorder.

49
Q

State some example PMS symptoms

A
  • Low mood
  • Anxiety
  • Mood swings
  • Irritability
  • Bloating
  • Fatigue
  • Headaches
  • Breast pain
  • Reduced confidence
  • Cognitive impairment
  • Clumsiness
  • Reduced libido
50
Q

How is PMS diagnosed?

A
  • Most commonly via symptom diary:
    • Must span two menstrual cycles
    • Show cyclical symptoms that occur just before menstruation & resolve after onset of menstruation
  • Definitive diagnosis can be made by giving GnRH analogues to stop menstrual cycle and temporarily induce menopause to see if symptoms resolve
51
Q

Discuss the management of PMS in primary care

A

Management of PMS should be tailored to the severity and type of symptoms, the woman’s treatment preferences, and any desire to become pregnant. Options include:

  • Lifestyle advice (exercise, improve diet, reduce alcohol, stop smoking, improved sleep, reduced stress): all women
  • COCP: moderate PMS
  • CBT: moderate PMS
  • SSRI: severe PMS

**RCOG recommends COCP containing drospirenone first line (e.g Yasmin) as has some anti-mineralocorticoid effects similar to spironolactone. Continuous use of pill- as opposed to cyclical- may be more effective

Review after 2 months and if symptoms not controlled refer to gyneacologist

52
Q

Discuss the further management of PMS in secondary care

A

Severe PMS requires MDT mangement:

  • Continuous transdermal oestrogen (patches)
    • Need progesterone if have uterus. This can be in form or Mirena coil or cyclical progesterone’s to trigger withdrawal bleed
  • GnRH analogues: to induce menopausal state. Reserved for severe cases due to risks. HRT can be used to replace hormones to reduce effects
  • Hysterectomy & bilateral oophorectomy: induce menopause in severe cases where medical management failed. Will need need HRT if <45yrs
  • Danazole & tamoxifen: options for cyclical breast pain)
  • Spironolactone: treat physical symptoms e.g. breast swelling, water retention, bloating)
53
Q

What is dysmenorrhoea?

A

Painful periods (painful cramping- usually in lower abdomen- which occurs shortly before or during menstruation or both - NICE CKS)

54
Q

There are two types of dysmenorrhoea; primary and secondary. Explain the difference

A
  • Primary: absence of identifiable pathology; thought to be due to uterine prostaglandins, produced during menstruation, that cause uterine contractions & pain
  • Secondary: caused by underlying pelvic pathology
55
Q

There are two types of dysmenorrhoea; primary and secondary. Explain the difference

A

Primary dysmenorrhoea

  • absence of identifiable pathology; thought to be due to uterine prostaglandins, produced during menstruation when progesterone levels decrease, that cause uterine contractions & pain
  • Usually starts 6-12 months after menarche. Pain starts just before menstruation and may last for up to 72hrs- improving over time
  • May be accompanied by non-gynaecological symptoms e.g. headache, nausea/vomiting, diarrhoea, fatigue
  • Pelvic examination normal

Secondary dysmenorrhoea

  • Secondary: caused by underlying pelvic pathology (see separate FC for causes)
  • Pain not consistently related to menstruation; may persist after or be present throughout cycle but worsened by menstruation
  • Other gynaecological symptoms often present (e.g. dyspareunia)
  • Pelvic examination may be abnormal
56
Q

State some example causes of secondary dysmenorrhoea

A
  • Endometriosis
  • Adenomyosis
  • Fibroids
  • PID
  • Intrauterine device insertion (usually 3-6 months after insertion)
  • Ovarian cancer
57
Q

State some risk factors for primary dysmenorrhoea

A
  • Earlier age of menarche
  • Heavy menstrual flow
  • Nulliparity
  • FH
  • Smoking
58
Q

What examinations should you perform on woman presenting with dysmenorrhoea?

A
  • Abdominal examination (masses, tenderness, ascites)
  • Bimanual pelvic examination
  • Speculum examination
59
Q

What investigations might you do for someone with dysmenorrhoea?

A

Alongside detailed history & examinations, may consider following to rule out underlying pathology (as primary dysmenorrhoea is a diagnosis of exclusion):

  • Ultrasound pelvis: rule out fibroids, endometriosis, adnexal pathology
  • High vaginal & endocervical swabs: if at risk of STI and other suggestive symptoms
  • Pregnancy test: rule out ectopic pregnancy
60
Q

Discuss the management of primary dysmenorrhoea

A
  • Non-pharmacological measures e.g. written info, hot water bottle, stop smoking, TENS
  • NSAIDs (offer paracetamol if NSAIDs contraindicated or not tolerated or in addition if NSAIDs not enough)
  • If above not enough, consider 3-6 month trial of hormonal contraceptive (COCP first line) if don’t wish to conceive
  • Refer to gynaecologist if symptoms severe & not responded to treatment within 3-6 months
61
Q

Discuss the management of secondary dysmenorrhoea

A

Manage as per underlying cause (see other FC’s for management of the causes)

62
Q

State some of the key structural abnormalities of the female reproductive tract

A
  • Bicornuate uterus
  • Imperforate hymen
  • Transverse vaginal septum
  • Vaginal hypoplasia & agenesis
63
Q

For bicornuate uterus, discuss:

  • What it is
  • How diagnosed
  • Complications
A
  • Uterus has ‘two horns’ giving it a heart shape
  • Pelvic ultrasound scan
  • Associated with increased risk of adverse pregnancy outcomes:
    • Miscarriage
    • Premature birth
    • Malpresentation
64
Q

For imperforate hymen, discuss:

  • What it is
  • Presentation
  • Potential complications
  • Treatment
A
  • No opening in hymen (thin layer of tissue that covers vaginal opening)
  • Presentation:
    • Primary amenorrhoea
    • ^^ may have cyclical pelvic pain but no bleeding
  • Complications:
    • Haematocolpos
    • Retrograde menstruation leading to endometriosis
  • Treatment:
    • Surgical incision to create opening
65
Q

For transverse vaginal septae, discuss:

  • What it is
  • Presentation
  • Diagnosis
  • Treatment
  • Complications
A
  • Septum (wall) forms transversely across vagina. Can be perforate or imperforate
  • Presentation:
    • If perforate, will mensturate but may have difficulty with intercourse or tampon use
    • If imperforate, primary amenorrhoea +/- cyclical pelvic pain
  • Diagnosis by examination, ultrasound or MRI
  • Treatment is with surgical correction
  • Complications:
    • TVS:
      • Haematocolpos
      • Retrograde menstruation leading to endometriosis
      • Infertility
      • Pregnancy complications
    • Surgery for TVS:
      • Vaginal stenosis
      • Recurrence
66
Q

Discuss:

  • What vaginal hypoplasia is
  • What vaginal agenesis is
  • Why the above occur
  • Mangement
A
  • Vaginal hypoplasia: abnormally small vagina
  • Vaginal agenesis: absent vagina
  • Failure of Mullerian ducts to properly develop (may be associated with absent uterus & cervix)
  • Mangement:
    • Vaginal dilator over prolonged period of time
    • Vaginal surgery
67
Q

For androgen insensitivity syndrome, discuss:

  • Inheritance pattern
  • What it is
  • Pathophysiology
A
  • X-linked recessive
  • Defect in androgen receptor gene on X-chromosome
  • Pathophysiology:
    • Genetically male with XY chromosome
    • Absent response to testosterone and conversion of additional androgens to oestrogen results in female phenotype (normal female external genitalia and female secondary sexual characteristics)
    • Tests in abdomen or inguinal canal
    • Absence of uterus, upper vagina, cervix, fallopian tubes & ovaries as female organs don’t develop as testes produce anti-Mullerian hormone
68
Q

Describe typical presentation of complete androgen insensitivity syndrome

A

Female (phenotypically) presenting:

  • In infancy with inguinal hernias (testes)
  • Or may present at puberty with primary amenorrhoea
69
Q

Discuss the management of complete androgen insensitivity syndrome

A

MDT management (paediatrician, gynaecology, urology, endocrinology, psychology):

  • Bilateral orchidectomy
  • Oestrogen therapy
  • Vaginal dilators or surgery to produce adequate vaginal length

**NOTE: Generally, patients are raised as female, but this is sensitive and tailored to the individual. They are offered support and counselling to help them understand the condition and promote their psychological, social and sexual wellbeing.