sex disorders

Question 1

Androgen insensitivity syndrome is an X-linked recessive hwo do people appear

Answer 1

genotypically male children (46XY) to have a female phenotype

Question 2

4 main features of androgen insensitivity sydnrome

Answer 2

‘primary amenorrhoea’
little or no axillary and pubic hair
undescended testes causing groin swellings
breast development may occur as a result of the conversion of testosterone to oestradio

Question 3

congential adrenal hyperplasia - defiicnecy in what hromone leadign to what

Answer 3

e deficiency in cortisol production leads to compensatory overproduction of adrenocorticotropic hormone (ACTH)

Elevated ACTH levels increase the production of adrenal androgens, which can result in the virilization of female infants and affect genital development.

Question 4

features of congenital adrenal hyperplasia

Answer 4

virilization:
female infants may present with ambiguous genitalia due to excessive androgen exposure (male can appear normal)

salt-wasting crisis:
dehydration, hypotension, and electrolyte imbalances

precocious puberty: Excess androgens can lead to early development of secondary sexual characteristics in both males and females.

infertility

height and growth abnormalities: accelerated growth rates initially but may have a shorter adult stature due to early epiphyseal closure.

need flucocorticoid or mineralcorticoid tx