primary amenorrhoea Flashcards
what is primary amenorrhoea?
By 13yrs and no evidence of pubertal development
By 15yrs and other signs of puberty such as breast bud development
when is normal puberty in girls?
Girls: starts 8-14 have growth spurt earlier
- Starts with development of breast buds, then pubic hair
- Periods start 2yrs following
what is hypogonadism?
lack of sex hormones oestrogen, testosterone
why does hypogonadism effect puberty?
- Usually rise before and during puberty lack of then delays puberty
what is hypogonadotrophic hypogonadism?
Hypogonadotropic hypogonadism: deficiency of LH and FSH
what does a lack of LH and FSH cause?
deficiency in oestrogen
where are LH and FSH produced?
anterior pituitary
what can cause LH/FSH deficiency?
- 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
what is kallman syndrome?
genetic condition linked to delayed start in puberty and linked to reduced/ absent sense of smell
what is congential adrenal hyperplasia?
congenital deficiency of 12-hydroxylase enzyme
what is the pathology of congenital adrenal hyperplasia?
- Resulting in low cortisol and aldosterone and over production of androgens
how would neonate present with congenital adrenal hyperplasia?
- Neonate is very unwell with electrolyte disturbances and hypoglycaemia
how would female present with congenital adrenal hyperplasia if picked up later?
- Females can present later: tall for age, facial hair, absent periods, deep voice, early puberty
how would androgen insentivity present?
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
what structural pathology can cause primary amenorrhoea?
Causes:
- Imperforate hymen
- Transverse vaginal septae
- Vaginal agenesis
- Absent uterus
- Female genital mutilation
what is the assessment needed for primary amenorrhoea?
- Look at evidence of puberty and assess for underlying
- Detailed Hx – general health, development, FHx, diet and lifestyle
- Exam: height, weight, stage of pubertal development and features of underlying
what is the initial investigations for primary amenorrhoea?
Initial investigations:
- FBC, ferritin – anaemia
- U&E: CKD
- Anti-ttg or anti-ema for coeliac
what imaging may be done for primary amenorrhoea?
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
how can you induce periods?
replacement hormones
how do you manage hypogonadotrophic hypogonadism?
: pulsatile GnRH to induce ovulation and menstruation
- May not impact fertility
- Replacement sex hormones – contraceptive pill
how do you manage PCOS?
PCOS: combined pill to induce menstruation and prevent symptoms of oestrogen deficiency
