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Gynaecology > 5. Amenorrhoea > Flashcards

5. Amenorrhoea Flashcards

1
Q

What is amenorrhoea?

A

Amenorrhoea is the absence of menstruation. It is a symptom, not a diagnosis, and may indicate various underlying disorders.

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2
Q

What are the most common causes of amenorrhoea?

A

The most common causes are endocrine dysfunction (99%) and, less commonly, anatomical defects (1%).

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3
Q

Should treatment for amenorrhoea be initiated without investigation?

A

No, treatment should never be initiated before a full investigation is undertaken and a diagnosis is made.

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4
Q

What is the definition of the reproductive years?

A

The reproductive years are generally between 16 and 40 years of age, representing the normal range for menarche and menopause.

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5
Q

What is primary amenorrhoea?

A

Primary amenorrhoea, synonymous with delayed menarche, is the failure to menstruate by the age of 16 years or later, with no prior spontaneous menstruation.

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6
Q

What is secondary amenorrhoea?

A

Secondary amenorrhoea is the absence of menstruation in a woman who has previously had menses, even if she has only had one spontaneous menstrual bleed.

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7
Q

What is galactorrhoea?

A

Galactorrhoea is inappropriate or non-puerperal lactation.

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8
Q

At what age and conditions should amenorrhoea be investigated?

A

Investigation is warranted if:

  • The patient is 14 years old with no secondary sex characteristics (delayed puberty).
  • The patient is 16 years old with normal growth and development of secondary sex characteristics (delayed menarche).
  • The patient has experienced amenorrhoea for at least 3 previous cycles or for 3–6 months.
  • Signs of hyperandrogenism are present.
  • Dysmorphic features are noted, regardless of menstrual dysfunction duration.
  • The patient has ambiguous genitalia, requiring urgent investigation
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9
Q

Aetiology of amenorrhoea

A
  1. physiological
  2. end organ defects
  3. gonadal causes
  4. pituitary causes
  5. hypothalamus and CNS
  6. thyroid disorders
  7. adrenal
  8. metabolic causes
  9. medication
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10
Q

What are the physiological causes of amenorrhoea?

A
  1. Pregnancy (always consider).
  2. Puerperium and lactation.
  3. Perimenarchae.
  4. Postmenopausal.
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11
Q

What types of end-organ defects can cause amenorrhoea?

A

End-organ defects may involve the uterus, cervix, or vagina.

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12
Q

What is Müllerian agenesis?

A

It is a congenital abnormality where the Müllerian system is absent.

Karyotype: 46XX.
Ovaries: Normal.

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13
Q

What are some examples of Müllerian anomalies?

A
  1. Cervical or vaginal atresia.
  2. Transverse vaginal septa.
  3. Imperforate hymen.
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14
Q

What is the karyotype in Müllerian anomalies, and are the ovaries normal?

A

Karyotype: 46XX.
Ovaries: Normal.

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15
Q

What are some disorders of sex development (DSD) that cause amenorrhoea?

A
  1. Sex Chromosome DSD (e.g., Klinefelter Syndrome, 47XXY; Turner Syndrome, 45XO).
  2. 46XY DSD.
  3. 46XX DSD.
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16
Q

What causes amenorrhoea in 46XY DSD?

A
  1. Disorders of gonadal development.
  2. Disorders of androgen synthesis (e.g., 5α-reductase deficiency).
  3. Disorders of androgen action (e.g., androgen insensitivity).
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17
Q

What happens in 5α-reductase deficiency?

A

Testosterone is not converted to DHT.

  • Karyotype: Male (46XY).
  • Phenotype: Female at birth.
  • Puberty: Androgen increase causes masculinisation.
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18
Q

What occurs in androgen insensitivity?

A

Karyotype: Male (46XY).
Phenotype: Female.
Uterus: Absent.
Cause: Insensitivity to testosterone.

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19
Q

What causes amenorrhoea in 46XX DSD?

A
  1. Disorders of gonadal development (e.g., gonadal dysgenesis).
  2. Androgen excess (fetal, fetoplacental, or maternal).
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20
Q

What type of amenorrhoea is caused by congenital abnormalities or DSD?

A

Primary amenorrhoea.

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21
Q

What are acquired abnormalities that cause amenorrhoea?

A
  1. Obliteration of the uterine cavity or cervix.
  2. Obstruction due to trauma (e.g., dilatation and curettage) or infection (e.g., tuberculosis).
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22
Q

What are the main categories of gonadal causes of amenorrhoea?

A
  1. Aberrant function/dysfunction.
  2. Primary ovarian insufficiency.
  3. Disorders of sex development (DSD).
  4. Functional ovarian tumours.
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23
Q

What conditions fall under aberrant function/dysfunction of the ovaries?

A
  1. Polycystic ovary syndrome (PCOS).
  2. Resistant ovary syndrome (failure to respond to gonadotrophin stimulation, which may be intermittent).
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24
Q

What are causes of primary ovarian insufficiency?

A
  1. Premature menopause.
  2. Ovarian dysgenesis or agenesis (presents as primary amenorrhoea).
  3. Damage from irradiation, chemotherapy, or surgery.
  4. Autoimmune diseases.
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25
Q

How do DSD conditions contribute to gonadal causes of amenorrhoea?

A

They may involve the presence of ovotestis or testis (presents as primary amenorrhoea).

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26
Q

What is another gonadal cause of amenorrhoea besides dysfunction, insufficiency, or DSD?

A

Functional tumours of the ovary.

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27
Q

What are the main categories of pituitary causes of amenorrhoea?

A
  1. Hyperprolactinemia.
  2. Hypopituitarism.
  3. Disruption of hypothalamic-pituitary connections.
  4. Pituitary tumours.
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28
Q

What are the causes of hyperprolactinemia?

A
  1. Physiological causes.
  2. Pharmacological causes (e.g., metoclopramide, phenothiazine).
  3. Psychological causes (e.g., stress, tension, pseudocyesis).
  4. Pituitary tumours.
  5. Peripheral lesions.
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29
Q

Which pituitary tumours can cause hyperprolactinemia?

A
  1. Prolactinomas.
  2. Acromegaly.
  3. Nelson syndrome.
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30
Q

What are examples of peripheral lesions causing hyperprolactinemia?

A
  1. Granulomas (e.g., TB, sarcoidosis).
  2. Tumours (e.g., craniopharyngioma).
  3. Irradiation.
  4. Stalk section (e.g., following trauma).
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31
Q

What are other causes of hyperprolactinemia?

A
  1. Primary hypothyroidism (TRH drives prolactin).
  2. Chronic renal failure.
  3. Irritation of the chest wall (e.g., herpes zoster, surgery).
32
Q

How common is pathological hyperprolactinemia in women with amenorrhoea?

A

It is found in about 20% of women with amenorrhoea, and one-third of these patients also have galactorrhoea.

33
Q

What are causes of hypopituitarism leading to amenorrhoea?

A
  1. Isolated gonadotrophin deficiency (rare, causes primary amenorrhoea).
  2. Post-irradiation or surgery.
  3. Empty Sella Syndrome.
  4. Post-infarction (Sheehan’s syndrome).
34
Q

What causes disruption of hypothalamic-pituitary connections?

A
  1. Stalk lesions (e.g., granulomas, traumatic section).
  2. Interruption of the vascular link (e.g., infarction).
35
Q

Which pituitary tumours can cause amenorrhoea aside from prolactinomas?

A

Cushing’s syndrome.
Acromegaly.

36
Q

Why does the underlying pathology often overshadow menstrual disturbances in pituitary tumours?

A

The systemic effects of the condition are typically more severe and noticeable than menstrual issues.

37
Q

What are psycho-neuroendocrine causes of amenorrhoea?

A
  1. Nutritional causes:
    - Anorexia nervosa.
    - Simple weight loss.
    - Excessive exercise.
  2. Stress.
38
Q

What syndrome is associated with GnRH deficiency and anosmia?

A

Kallmann’s syndrome (causes primary amenorrhoea).

39
Q

How can CNS tumours cause amenorrhoea?

A

CNS tumours (e.g., craniopharyngioma) may compress or destroy the hypothalamus, disrupting hormonal regulation.

40
Q

Which thyroid disorders are associated with amenorrhoea?

A
  1. Hypothyroidism: Associated with increased prolactin.
  2. Hyperthyroidism: Both alter steroid hormone metabolism.
41
Q

What are adrenal causes of amenorrhoea?

A

1.Congenital Adrenal Hyperplasia (CAH): Early and late onset.
2 .Cushing’s syndrome.
3. Addison’s disease.

42
Q

How does cystic fibrosis cause amenorrhoea?

A

Absorption problems lead to undernutrition.

43
Q

Why might vegans develop amenorrhoea?

A

Altered gut flora can affect oestrogen absorption.

44
Q

What are other metabolic causes of amenorrhoea?

A

Diabetes mellitus.
Liver disease.

45
Q

How can medications lead to amenorrhoea?

A

Medications can cause amenorrhoea through multiple mechanisms, depending on their effects on hormonal pathways and reproductive organs.

46
Q

What are the physiological causes of amenorrhoea?

A
  1. Pregnancy.
  2. Lactation.
  3. Perimenopausal phase.
  4. Perimenarchal phase.
47
Q

What conditions are associated with hyperprolactinemia as a cause of amenorrhoea?

A
  1. Physiological causes.
  2. Pharmacological effects (medications).
  3. Psychological factors.
  4. Pituitary causes.
48
Q

What are peripheral causes of amenorrhoea?

A
  1. Androgenic conditions.
  2. Polycystic Ovary Syndrome (PCOS).
  3. Congenital Adrenal Hyperplasia (CAH).
  4. Tumours.
  5. Medication effects.
49
Q

What other causes of amenorrhoea exist beyond physiological and peripheral factors?

A
  1. Hypothalamic disturbances.
  2. Anatomical abnormalities.
  3. Disturbances of steroid economy.
  4. Gonadal failure.
50
Q

What are the primary causes of amenorrhoea?

A
  1. Errors in genital differentiation.
  2. Errors in gonaductal development.
  3. Errors in gonadal development.
  4. Hypothalamic-pituitary disturbances.
  5. Follicles unresponsive to gonadotrophins.
51
Q

What aspects of the presenting complaint should be addressed?

A

Define what troubles the patient (e.g., absence of menses, lack of secondary sexual characteristics, or infertility).

Menstrual history (past and present).

Pubertal development (e.g., breasts, pubic hair, axillary hair, growth).

Past obstetric and gynecological history.

Symptoms of vaginal dryness, libido changes, and medication use.

Signs of endocrinopathy (e.g., hirsutism, acne, skin changes, polyuria, thyroid issues).

52
Q

What medical history factors are relevant?

A

Medications.
Previous surgeries.

53
Q

What should be assessed in the social history?

A

Stress levels.
Career aspirations.
Domestic life upheavals.

54
Q

What family history conditions should be considered?

A

Congenital adrenal hyperplasia.

Polycystic ovary syndrome (PCOS).

55
Q

What vital signs and measurements should be taken?

A

Blood pressure.
Weight, height, and BMI.

56
Q

What should be noted about the patient’s general appearance?

A

-Stigmata of endocrinopathies or chromosomal abnormalities.
- Hair distribution, hirsutism, or acne.
- Signs of virilization.
- Breast examination for galactorrhoea.

57
Q

When is pubertal staging or vaginal examination indicated?

A
  • Pubertal staging is indicated for delayed secondary sexual development.
  • Vaginal examination is performed if clinically appropriate.
58
Q

What does the presence of a uterus and absence of secondary sexual characteristics indicate?

A

Failure of ovarian or hypothalamic-pituitary function.

59
Q

What does the absence of a uterus with normal secondary sexual characteristics suggest?

A
  • Müllerian agenesis.
  • 46 XY female (e.g., androgen insensitivity).
60
Q

What does the presence of normal genitalia and secondary sexual characteristics imply?

A

Constitutional delay in menarche.

Failure of ovarian or hypothalamic function after puberty (same causes as secondary amenorrhoea).

61
Q

When is a disorder of sex development (DSD) considered?

A

When genital or chromosomal abnormalities are suspected.

62
Q

What is the first investigation for amenorrhoea?

A

Exclude pregnancy.

63
Q

When is chromosome analysis required?

A
  • Height less than 1.52m.
  • Primary amenorrhoea.
  • Suspected chromosomal abnormalities.
64
Q

What do FSH and LH levels indicate?

A
  • Elevated: Ovarian failure.
  • Very low: Pituitary or hypothalamic dysfunction.
  • Inverse ratio (LH > FSH): Consider PCOS.
  • Normal: Further investigation needed.
65
Q

How is prolactin assessed?

A

Elevated: Repeat test and check thyroid function and medication.

Normal TFTs: Detailed radiology required if no medications are involved.

66
Q

When is TSH measured?

A

For selected patients with suspected thyroid dysfunction.

67
Q

What is the role of testosterone and DHEAS testing?

A

To evaluate hyperandrogenic status.

68
Q

Why is 17α OH progesterone measured?

A

To exclude congenital adrenal hyperplasia (CAH); stimulation tests may be necessary.

69
Q

What does no withdrawal bleed indicate after a progestogen withdrawal test?

A

No endogenous oestrogen production.

Outflow tract abnormalities.

70
Q

What is the next step if there is no withdrawal bleed?

A
  1. Administer oestrogen and progesterone together (e.g., combined oral contraceptive).
    2.If still no bleed, investigate the outflow tract further
71
Q

When is ultrasonographic examination of the ovaries particularly useful?

A
  1. Assessing ovarian physiology and pathology.
  2. Determining the presence or absence of the uterus.
  3. Evaluating pelvic organs in young girls where vaginal examination is avoided.
  4. Assessing endometrial thickness and uterine size (for oestrogen effect).
  5. Diagnosing polycystic ovaries.
  6. Monitoring therapeutic progress.
72
Q

What is the primary approach in managing amenorrhoea?

A

Treat the underlying pathology, not just the amenorrhoea itself.

73
Q

What is crucial before deciding on treatment for amenorrhoea?

A

Perform appropriate investigations to gather sufficient information to define prognosis and treatment options.

74
Q

What should be avoided in diagnosing amenorrhoea?

A

Do not diagnose “post-pill amenorrhoea” without proper investigation, as a cause for the cessation of menses can usually be identified.

75
Q

What is the key principle when managing amenorrhoe

A

Do not institute therapy without a proper diagnosis.

76
Q

Why is a diagnosis important before starting treatment for amenorrhoea?

A

A diagnosis ensures appropriate treatment of the underlying pathology, not just the symptom of amenorrhoea itself.

Gynaecology (25 decks)

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