Primary and secondary amenorrhoea

Question 1

What is primary amenorrhoea?

Answer 1

Absence of menstruation by 13 with no other evidence of pubertal development

Absence of menstruation by 15 with other signs of puberty

Question 2

What is the average age range for puberty starting in males?

Answer 2

9-15

Question 3

What is the average age range for puberty starting in females?

Answer 3

8-14

Question 4

What is menarche?

Answer 4

First period

Question 5

What is thelarche

Answer 5

Breast bud development

Question 6

What is pubarche

Answer 6

Pubic hair development

Question 7

When does menarche usually occur in relation to pubarche and thelarche

Answer 7

Around 2 years after

Question 8

What is hypogonadism?

Answer 8

The lack of sex hormones, oestrogen and testosterone

Question 9

What is hypogonadotrophic hypogonadism?

Answer 9

Deficiency of LH and FSH

Question 10

What is hypergonadotropic hypogonadism?

Answer 10

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

Question 11

What gland produces LH and FSH?

Answer 11

Anterior pituitary gland

Question 12

What hormone stimulates FSH and LH release?

Answer 12

GnRH

Question 13

What are some possible causes of hypogonadotropic hypogonadism?

Answer 13

Hypopituitarism
Hypothalamus or pituitary damage
Chronic conditions
Excessive exercise
Constitutional delay in growth and development
Endocrine disorders (GH deficiency, hypothyroidism, Cushing’s)
Kallman syndrome

Question 14

What are some possible causes of hypergonadotropic hypogonadism

Answer 14

Previous damage to the gonads
Congenital absence of the ovaries
Turner’s syndrome (XO)

Question 15

What is Kallman syndrome?

Answer 15

A genetic condition resulting in hypogonadotropic hypogonadism and anosmia

Question 16

What is congenital adrenal hyperplasia?

Answer 16

A condition caused by a congenital deficiency of 21-hydroxylase enzyme causing underproduction of cortisol and aldosterone and overproduction of androgens

Question 17

Describe the inheritance of congenital adrenal hyperplasia

Answer 17

Autosomal recessive

Question 18

What are some common features of CAH?

Answer 18

• Tall for their age
• Facial hair
• Absent periods (primary amenorrhoea)
• Deep voice
• Early puberty

Question 19

What is androgen insensitivity syndrome?

Answer 19

A condition in which tissues cannot respond to androgen hormones, so typical male characteristics do not develop

Question 20

How does androgen insensitivity syndrome present?

Answer 20

Males with normal external female genitalia, breast tissue, internal testes and absent uterus, vagina, fallopian tubes and ovaries

Question 21

What are some structural pathologies that can cause primary amenorrhoea?

Answer 21

• Imperforate hymen
• Transverse vaginal septae
• Vaginal agenesis
• Absent uterus
• Female genital mutilation

Question 22

What is imperforate hymen

Answer 22

Normally, the hymen is a crescent shape structure covering the entrance to the vagina

In imperforate hymen, the hymen extends fully across the vagina, preventing the release of blood

Question 23

What are some initial tests required in primary amenorrhoea?

Answer 23

• FBC
• Ferritin
• U+E (For CKD)
• Anti-TTG and anti-EMA for coeliac

Question 24

What are some hormonal blood tests required in primary amenorrhoea?

Answer 24

• FSH and LH (Differentiate between hyper and hypogonadotropic)
• TFTs
• IGF1 (Assess for GH deficiency)
• Prolactin
• Testosterone

Question 25

What are some other tests required in primary amenorrhoea

Answer 25

- Genetic testing for Turner's syndrome - X-ray wrist for bone age to diagnose constitutional delay - Pelvic US - MRI brain

Question 26

What are some management options for primary amenorrhoea?

Answer 26

Treat cause Replacement hormones Pulsatile GnRH if required

Question 27

What is meant by secondary amenorrhoea?

Answer 27

No menstruation for more than 3 months after previous regular periods

Question 28

What are some possible causes of secondary amenorrhoea?

Answer 28

Pregnancy Menopause or Primary ovarian insufficiency Hormonal contraception Hypothalamic or pituitary pathology PCOS Asherman's syndrome Thyroid pathology Hyperprolactinaemia

Question 29

What causes decreased GnRH production by the hypothalamus?

Answer 29

Physiological and psychological stress to prevent pregnancy during unfavourable situations (E.g. Excessive exercise, low BMI, chronic disease, stress)

Question 30

What are some pituitary causes of secondary amenorrhoea?

Answer 30

Pituitary tumours (E.g. prolactinoma) Pituitary failure (E.g. trauma, radiotherapy, surgery, Sheehan syndrome)

Question 31

How does hyperprolactinaemia cause secondary amenorrhoea?

Answer 31

Hugh prolactin acts on the hypothalamus to cause release of GnRH, preventing LH and FSH release, causing hypogonadotropic hypogonadism

Question 32

What is the most common cause of hyperprolactinaemia?

Answer 32

Pituitary adenoma secreting prolactin (Prolactinoma)

Question 33

What are some management options for hyperprolactinaemia?

Answer 33

Dopamine agonists (E.g. bromocriptine, cabergoline)

Question 34

What hormonal tests are required in secondary amenorrhoea?

Answer 34

HCG (Pregnancy) LH and FSH prolactin TSH T3 and T4 Testosterone

Question 35

How is secondary amenorrhoea managed?

Answer 35

Treat underlying cause