primary amenorrhoea

Question 1

what is primary amenorrhoea?

Answer 1

By 13yrs and no evidence of pubertal development
By 15yrs and other signs of puberty such as breast bud development

Question 2

when is normal puberty in girls?

Answer 2

Girls: starts 8-14  have growth spurt earlier
- Starts with development of breast buds, then pubic hair
- Periods start 2yrs following

Question 3

what is hypogonadism?

Answer 3

lack of sex hormones  oestrogen, testosterone

Question 4

why does hypogonadism effect puberty?

Answer 4

• Usually rise before and during puberty  lack of then delays puberty

Question 5

what is hypogonadotrophic hypogonadism?

Answer 5

Hypogonadotropic hypogonadism: deficiency of LH and FSH

Question 6

what does a lack of LH and FSH cause?

Answer 6

deficiency in oestrogen

Question 7

where are LH and FSH produced?

Answer 7

anterior pituitary

Question 8

what can cause LH/FSH deficiency?

Answer 8

• Hypopituitarism
• Damage to hypothalamus/ pituitary eg radiotherapy/ surgery
• Significant chronic conditions  can delay puberty eg cystic fibrosis/ inflame bowel disease
• Excessive exercise/ dieting: can delay onset
• Constitutional delay in growth and development  temporary delay in growth and puberty without underlying physical pathology
• Endo disorders: GH deficiency , hypothyroidism, cushing’s, hyperprolactinaemia
• Kallman syndrome

Question 9

what is kallman syndrome?

Answer 9

genetic condition linked to delayed start in puberty and linked to reduced/ absent sense of smell

Question 10

what is congential adrenal hyperplasia?

Answer 10

congenital deficiency of 12-hydroxylase enzyme

Question 11

what is the pathology of congenital adrenal hyperplasia?

Answer 11

• Resulting in low cortisol and aldosterone and over production of androgens

Question 12

how would neonate present with congenital adrenal hyperplasia?

Answer 12

• Neonate is very unwell with electrolyte disturbances and hypoglycaemia

Question 13

how would female present with congenital adrenal hyperplasia if picked up later?

Answer 13

• Females can present later: tall for age, facial hair, absent periods, deep voice, early puberty

Question 15

how would androgen insentivity present?

Answer 15

Androgen insensitivity: tissues are unable to respond to androgen hormones (testosterone)  typical male sexual characteristics are not developed.
- Gives female phenotype except internal organs
- Pts have normal external female genitalia and breasts but contains testes in abdo/ inguinal canal, absent uterus/ upper vagina/ fallopian tubes and ovaries

Question 16

what structural pathology can cause primary amenorrhoea?

Answer 16

Causes:
- Imperforate hymen
- Transverse vaginal septae
- Vaginal agenesis
- Absent uterus
- Female genital mutilation

Question 17

what is the assessment needed for primary amenorrhoea?

Answer 17

1. Look at evidence of puberty and assess for underlying
2. Detailed Hx – general health, development, FHx, diet and lifestyle
3. Exam: height, weight, stage of pubertal development and features of underlying

Question 18

what is the initial investigations for primary amenorrhoea?

Answer 18

Initial investigations:
- FBC, ferritin – anaemia
- U&E: CKD
- Anti-ttg or anti-ema for coeliac

Question 19

what imaging may be done for primary amenorrhoea?

Answer 19

Imaging:
- XR of wrist – bone age and density
- Pelvic US: look at ovaries and other pelvic organs
- MRI brain: pituitary pathology, assess olfactory bulbs in possible kallman

Question 20

how can you induce periods?

Answer 20

replacement hormones

Question 21

how do you manage hypogonadotrophic hypogonadism?

Answer 21

: pulsatile GnRH to induce ovulation and menstruation
- May not impact fertility
- Replacement sex hormones – contraceptive pill

Question 22

how do you manage PCOS?

Answer 22

PCOS: combined pill to induce menstruation and prevent symptoms of oestrogen deficiency