primary amenorrhoea

Question 1

defined as

Answer 1

not starting menstruation

• by 13yrs with no evidence pubertal development
• by 15yrs where there are other signs of puberty e.g. breast budding

Question 2

normal puberty starrts…

Answer 2

8-14 in girls

9-15 in boys

Question 3

hypogonadism

Answer 3

lack of sex hormones oestrogen and testosterone

Question 4

hypogonadotrophic hypogonadism

Answer 4

deficiency of LH and FSH leading to deficiency oestrogen

no gonagotropins stimulating ovaries so they dont produce sex hormones

Question 5

hypogonadotrophic hypogonadism - causes

Answer 5

abnormal functioning of hypothalamus or pituitary

• hypopituarism
• damage
• chronic conditions e.g. CF, IBD
• excessive exercise/diet
• constitutional dely
• endocrine disorders
• kallman syndrome

Question 6

hypergonadotropic hypogonadism

Answer 6

gonads fail to respond to stimulation from LH and FSH

no negative feedback from gonads to LH and FSH are high

Question 7

hypergonadotropic hypogonadism causes

Answer 7

previous damage
congenital absence of ovaries
turners syndrome

Question 8

Kallman syndrome

Answer 8

genetic condition assoc w hypogonadotropic hypogonadism

failure to start puberty

Question 9

kallman syndrome - assoc with

Answer 9

reduced/absent sense of smell

Question 10

congenital adrenal hyperplasia

Answer 10

congenital deficiency of 21-hydroxylase enzyme causing underproduction of cortisol and aldosertone and overproduction of androgens

Question 11

congenital adrenal hyperplasia - inheritance

Answer 11

autosomal recessive

Question 12

congenital adrenal hyperplasia - presentation in severe cases

Answer 12

neonate unwell shortly after birth

• electrolyte disturbances
• hypoglycaemia

Question 13

congenital adrenal hyperplasia - presentation in milder cases

Answer 13

F patients can present later in childhood

• tall for age
• facial hair
• primary amenorrhoea
• deep voice
• early puberty

Question 14

androgen insensitivity syndrome

Answer 14

tissues unable to respond to androgen hormone e.g. testosterone so typicla male characteristics dont develop

results in female phenotype, other than internal pelvic organs 0 have normal female external genitaila

testes in abdo or inguinal canal and no utrus

Question 15

structural pathologies that can cause primary amenorrhoea

Answer 15

imperforate hymen 
tranverse vaginal septae
vaginal agenesis 
absent uterus 
FGM