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Gynaecology > Primary Amenorrhoea > Flashcards

Primary Amenorrhoea Flashcards

1
Q

Define primary amenorrhoea.

A

Not starting menstruation either:

By 13 years when there is no other evidence of pubertal development

Or

By 15 years of age where there are other signs of puberty

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2
Q

When does puberty start in girls?

A

8-14

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3
Q

When does puberty start in bodys?

A

9-15

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4
Q

How long does puberty tend to last from start to finish?

A

4 years§

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5
Q

Describe the order of puberty in girls.

A
  1. Development of breast buds
  2. Development of pubic hair
  3. Menarche
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6
Q

What is hypogonadism?

A

Lack of sex hormones (oestrogen and testosterone) that normally rise before and during puberty.

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7
Q

A lack of sex hormones is fundamentally potentially due to what two things?

A
  1. Hypogonadotropic hypogonadism

2. Hypergonadotroic hypogonadism

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8
Q

What is hypogonadotropic hypogonadism?

A

A deficiency of LH and FSH

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9
Q

What is hypergonadotropic hypogonadism?

A

A lack of response to LH and FSH by the gonads (testes and ovaries)

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10
Q

What are potential causes of hypogonadotrophic hypogonadism?

A
  1. Hypopituitarism (underproduction of pituitary hormones)
  2. Damage to hypothalamus or pituitary (e.g. radiotherapy or surgery for cancer)
  3. Significant chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or IBD)
  4. Excessive exercise or dieting can delay onset
  5. Constitutional delay in growth and development
  6. Endocrine disorders (e.g. growth hormone deficiency, hypothyroidism, Cushing’s, hyperprolactinaemia)
  7. Kallman syndrome
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11
Q

What is constitutional delay in growth and development?

A

Temporary delay in growth and puberty without underlying physical pathology.

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12
Q

What are possible causes of hypergonadotropic hypogonadism?

A
  1. Damage to gonads (e.g. torsion, cancer, infections like mumps)
  2. Congenital absence of ovaries
  3. Turner’s syndrome (XO)
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13
Q

What is Kallman syndrome? What symptom is it associated with?

A

A genetic condition causing hypogonadotrophic hypogonadism, with failure to start puberty.

It is associated with a reduced or absent sense of smell (anosmia).

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14
Q

What causes congenital adrenal hyperplasia?

A

Congenital deficiency of 21-hydroxylase enzyme (sometimes 11-beta-hydroxylase).

This causes underproduction of cortisol and aldosterone, and overproduction of androgens from birth.

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15
Q

How is congenital adrenal hyperplasia inherited?

A

Autosomal recessive pattern.

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16
Q

How does congenital adrenal hyperplasia present in severe cases?

A

Neonate unwell shortly after birth, with electrolyte disturbances and hypoglycaemia.

17
Q

How does congenital adrenal hyperplasia present in mild cases?

A

Female patients present in childhood or at puberty with typical features (tall for age, facial hair, absent periods, deep voice, early puberty).

18
Q

What is androgen insensitivity syndrome?

A

Condition where tissues are unable to respond to androgen hormones (e.g. testosterone) so typical male sexual characteristics do not develop.

This results in female phenotype (other than internal pelvic organs).

Patients have normal female external genitalia and breast tissue, but internally there are testes in the abdomen or inguinal cancer, and an absent uterus, upper vagina, fallopian tubes and ovaries.

19
Q

Describe what symptoms may be experiences by patients with structural pathology being the cause of primary amenorrhoea.

A

Cyclical abdominal pain as menses build up but are unable to escape through vagina.

20
Q

List 5 structural pathologies which can cause primary amenorrhoea.

A
  1. Imperforate hymen
  2. Transverse vaginal septae
  3. Vaginal agenesis
  4. Absent uterus
  5. Female genital mutilation
21
Q

What is the threshold for initiating investigations into primary amenorrhoea?

A

No evidence of pubertal changes in a girl aged 13. Investigation can also be considered when there is some evidence of puberty but no progression after two years.

22
Q

When assessing primary amenorrhoea, why might you do a FBC and ferritin?

A

To look for anaemia

23
Q

When assessing primary amenorrhoea, why might you do a U&E?

A

To look for chronic kidney disease

24
Q

When assessing primary amenorrhoea, why might you do an anti-TTG or anti-EMA?

A

To look for antibodies for coeliac disease

25
Q

What are FSH and LH levels like in hypogonadotropic hypogonadism?

A

Low

26
Q

What are FSH and LH levels like in hypergonadotropic hypogonadism?

A

High

27
Q

What hormonal blood tests might be carried out to investigate primary amenorrhoea (5)?

A
  1. FSH and LH
  2. Thyroid function tests
  3. Insulin-like growth factor I
  4. Prolactin
  5. Testosterone
28
Q

Why is insulin-like growth factor I tested when investigating primary amenorrhoea?

A

To check for GH deficiency

29
Q

When might testosterone be raised (3)?

A
  1. Polycystic ovarian syndrome
  2. Androgen insensitivity syndrome
  3. Congenital adrenal hyperplasia
30
Q

How are genetic conditions like Turner’s syndrome identified?

A

Genetic testing with microarray test

31
Q

Why might an X-ray of the wrist be used in the investigation of primary amenorrhoea?

A

To assess bone age and inform a diagnosis of constitutional delay.

32
Q

Why might a pelvic ultrasound be used in the investigation of primary amenorrhoea?

A

To assess the ovaries and other pelvic organs.

33
Q

Why might an MRI of the brain be used in the investigation of primary amenorrhoea?

A

To look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome

34
Q

How are patients with constitutional delay in growth and development usually managed?

A

Reassurance and observation

35
Q

How might patients with primary amenorrhoea due to stress or low body weight (secondary to diet and exercise) be managed?

A
  1. Stress reduction
  2. CBT
  3. Healthy weight gain
36
Q

How are patients with hypogonadotropic hypogonadism managed when fertility is wanted?

A

Pulsatile GnRH used to induce ovulation and menstruation.

37
Q

How are patients with hypogonadotropic hypogonadism managed when pregnancy is not wanted?

A

Replacement sex hormones in the form of COCP to induce regular menstruation and prevent symptoms of oestrogen deficiency.

38
Q

How are patients amenorrhoea due to ovarian cause e.g. polycystic ovarian syndrome, damage to ovaries or absence of ovaries managed?

A

COCP to induce regular menstruation and prevent symptoms of oestrogen deficiency.

Gynaecology (25 decks)

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