Primary amenorrhea Flashcards

1
Q

Primary amenorrhoea

A

Is defined as not starting menstruation: Never had menstruation before

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2
Q

Normal puberty times in boys & girls

A

Puberty starts age 8 – 14 in girls and 9 – 15 in boys.

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3
Q

The order of pubertal changes in girls

A

Breast buds, then pubic hair, and menstrual periods about two years from the start of puberty.

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4
Q

Hypogonadism

A

Refers to a lack of the sex hormones, oestrogen and testosterone, that normally rise before and during puberty.

A lack of these hormones causes a delay in puberty.

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5
Q

Hypogonadotropic hypogonadism

A

A deficiency of LH and FSH

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6
Q

Hypergonadotropic hypogonadism

A

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

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7
Q

Causes of Hypogonadotropic hypogonadism

A
  1. Hypopituitarism
    2 Damage to the hypothalamus or pituitary,
  2. Significant chronic conditions (e.g. cystic fibrosis or inflammatory bowel disease)
  3. Excessive exercise or dieting
  4. Constitutional delay in growth and development
  5. Endocrine disorders
  6. Kalman syndrome
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8
Q

What can cause damage to the pituitary gland and hypothalamus?

A

By radiotherapy or surgery for cancer

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9
Q

Significant chronic conditions can temporarily delay puberty; give examples?

A

e.g. cystic fibrosis or inflammatory bowel disease

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10
Q

Constitutional delay in growth and development

A

Is a temporary delay in growth and puberty without underlying physical pathology

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11
Q

Endocrine disorders that cause Hypogonadotropic hypogonadism and thus primary amenorrhea

A

Growth hormone deficiency, hypothyroidism, Cushing’s disease or hyperprolactinaemia

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12
Q

Hypergonadotropic Hypogonadism

A

Is where the gonads fail to respond to stimulation from the gonadotrophins (LH and FSH).

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13
Q

Causes of Hypergonadotropic Hypogonadism

A
  1. Previous damage to the gonads
  2. Congenital absence of the ovaries
  3. Turner’s syndrome (XO)
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14
Q

Kallmann syndrome

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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15
Q

Congenital Adrenal Hyperplasia

A

Caused by a congenital deficiency of the 21-hydroxylase enzyme. This causes underproduction of cortisol and aldosterone, and overproduction of androgens from birth.

It is a genetic condition inherited in an autosomal recessive pattern. In a small number of cases, it involves a deficiency of 11-beta-hydroxylase rather than 21-hydroxylase.

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16
Q

Features of Congenital Adrenal Hyperplasia in females

A
	Tall for their age
	Facial hair
	Absent periods (primary amenorrhoea)
	Deep voice
	Early puberty
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17
Q

Androgen Insensitivity Syndrome

A

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

It results in a female phenotype, other than the internal pelvic organs. Patients have normal female external genitalia and breast tissue. Internally there are testes in the abdomen or inguinal canal, and an absent uterus, upper vagina, fallopian tubes and ovaries.

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18
Q

Structural pathology that can cause primary amenorrhoea

A
  1. Imperforate hymen
  2. Transverse vaginal septae
  3. Vaginal agenesis
  4. Absent uterus
  5. Female genital mutilation
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19
Q

How does structural pathology in the pelvis organs prevent menstruation?

A

If the ovaries are unaffected, there will be typical secondary sexual characteristics, but no menstrual periods. There may be cyclical abdominal pain as menses build up but are unable to escape through the vagina.

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20
Q

What investigations are done in primary amenorrhea?

A
  1. Full blood count and ferritin
  2. U&E
  3. Anti-TTG or anti-EMA antibodies
  4. FSH and LH
  5. Thyroid function tests
  6. Insulin-like growth factor
  7. Prolactin
  8. Testosterone
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21
Q

Why are full blood counts and ferritin tested in primary amenorrhea?

A

for anaemia

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22
Q

Why are Anti-TTG & anti-EMA antibodies tested in primary amenorrhea?

A

for coeliac disease

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23
Q

Why are FSH and LH tested in primary amenorrhea?

A

FSH and LH will be low in hypogonadotropic hypogonadism and high in hypergonadotropic hypogonadism

24
Q

Why is Insulin-like Growth factor tested in primary amenorrhea?

A

Used as a screening test for GH deficiency

25
Q

Why is prolactin tested in primary amenorrhea?

A

Raised in hyperprolactinaemia

26
Q

Why is testosterone tested in primary amenorrhea?

A

Raised in polycystic ovarian syndrome, androgen insensitivity syndrome and congenital adrenal hyperplasia

27
Q

Management of hypogonadotrophic hypogonadism

A

Patients with hypogonadotrophic hypogonadism, treatment with pulsatile GnRH can be used to induce ovulation and menstruation.

This has the potential to induce fertility. Alternatively, where pregnancy is not wanted, replacement sex hormones in the form of the combined contraceptive pill may be used to induce regular menstruation and prevent the symptoms of oestrogen deficiency.

28
Q

Ovarian causes of primary amenorrhea

A

polycystic ovarian syndrome, damage to the ovaries or absence of the ovaries,

29
Q

Management of ovarian causes of primary amenorrhea

A

The combined contraceptive pill may be used to induce regular menstruation and prevent the symptoms of oestrogen deficiency.

30
Q

Secondary amenorrhea

A

Defined as no menstruation for more than three months after previous regular menstrual periods.

In women with previously infrequent irregular periods, consider investigating after six to twelve months.

31
Q

Causes of secondary amenorrhea

A
  1. Pregnancy
  2. Menopause
  3. Hormonal contraception
  4. Hypothalamic or pituitary pathology
  5. Ovarian causes (e.g PCOS)
  6. Uterine pathology (e.g Asherman’s)
  7. Thyroid pathology
  8. Hyperprolactinaemia
  9. Premature ovarian failure
32
Q

Most common cause of secondary amenorrhea

A

Pregnancy

33
Q

Pituitary causes of secondary amenorrhae

A
  1. Pituitary tumours, such as a prolactin-secreting prolactinoma
  2. Pituitary failure due to trauma, radiotherapy, surgery or Sheehan syndrome
34
Q

Treatment for Hyperprolactinaemia

A

Often no treatment is required for hyperprolactinaemia.

Dopamine agonists such as bromocriptine or cabergoline can be used to reduce prolactin production.

35
Q

What is used for the diagnosis of pregnancy?

A

Beta human chorionic gonadotropin (HCG)

36
Q

What does high FSH suggest?

A

Ovarian failure

37
Q

What does high LH, or LH:FSH ratio suggest?

A

PCOS

38
Q

What does raised testosterone indicate when investigating amenorrhea?

A

polycystic ovarian syndrome, androgen insensitivity syndrome or congenital adrenal hyperplasia

39
Q

What is the risk of a prolonged amenorrhea (more than 12 months)?

A

osteoporosis

40
Q

Premenstrual syndrome (PMS)

A

Describes the psychological, emotional and physical symptoms that occur during the luteal phase of the menstrual cycle, particularly in the days prior to the onset of menstruation.

41
Q

What causes PMS?

A

Thought to the caused by fluctuation in oestrogen and progesterone hormones during the menstrual cycle.

The exact mechanism is not known, but it may be due to increased sensitivity to progesterone or an interaction between the sex hormones and the neurotransmitters serotonin and GABA.

42
Q

PMS can occur with the absence of menstruation; what are they?

A

After a hysterectomy, endometrial ablation or on the Mirena coil, as the ovaries continue to function, and the hormonal cycle continues.

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.

43
Q

Premenstrual dysphoric disorder

A

When PMS symptoms are severe and affect quality of life

44
Q

Progesterone-induced premenstrual disorder

A

PMS occurs in response to the combined contraceptive pill or cyclical hormone replacement therapy containing progesterone

45
Q

Diagnosis of PMS

A

Symptom diary spanning two menstrual cycles. The symptom diary should demonstrate cyclical symptoms that occur just before, and resolve after, the onset of menstruation.

A definitive diagnosis may be made, under the care of a specialist, by administering a GnRH analogue to halt the menstrual cycle and temporarily induce menopause, to see if the symptoms resolve.

46
Q

Danazole and tamoxifen use in PMS

A

For cyclical breast pain, initiated and monitored by a breast specialist

47
Q

Spironolactone use in PMS

A

Used to treat the physical symptoms of PMS, such as breast swelling, water retention and bloating

48
Q

Menorrhagia

A

Heavy menstrual bleeding

49
Q

Causes of menorrhagia

A
  1. Dysfunctional uterine bleeding (
  2. Extremes of reproductive age
  3. Fibroids
    4; Endometriosis and adenomyosis
  4. Pelvic inflammatory disease (infection)
  5. Contraceptives, particularly the copper coil
  6. Anticoagulant medications
  7. Bleeding disorders (e.g. Von Willebrand disease)
  8. Endocrine disorders
  9. Connective tissue disorders
  10. Endometrial hyperplasia or cancer
  11. Polycystic ovarian syndrome
50
Q

Why should Pelvic examination with a speculum and bimanual be performed when investigating the cause of menorrhagia?

A

To assess for fibroids, ascites and cancers.

51
Q

What investigation is done for all women with menorrhagia?

A

Full blood count should be performed in all women with heavy menstrual bleeding, to look for iron deficiency anaemia.

52
Q

Tranexamic acid

A

When the woman does not want contraception in menorrhagia; treatment can be used during menstruation for symptomatic relief, with Tranexamic acid when there is no associated pain

53
Q

Mefenamic acid

A

When the woman does not want contraception in menorrhagia; treatment can be used during menstruation for symptomatic relief, with Mefenamic acid when there is associated pain

54
Q

First line treatment for menorrhagia in woman who want contraception

A

Mirena coil (first line)

55
Q

What are the surgical options for menorrhagia when medical management (e.g tranexamic/mefenamic/mirena coil) ha failed?

A

Endometrial ablation, balloon thermal ablation and hysterectomy.