Endocrinology Flashcards
Describe the pathophysiology of androgen insensitivity syndrome
- End-organ resistance to testosterone
- This causes genetically male children (46, XY) to have a female phenotype
Describe the features of androgen insensitivity syndrome
- Primary amenorrhoea
- Breast development
- Groin swellings (undescended testes)
Describe the management of androgen insensitivity syndrome
- Bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)
- Oestrogen therapy
- Counselling
Describe the pathophysiology of congenital adrenal hyperplasia
Congenital enzyme deficiency of the adrenal glands, which affects hormone levels (low cortisol and high androgen levels)
Describe the features of congenital adrenal hyperplasia (in girls and boys)
Girls:
- Virilisation of female genitalia
Boys:
- Precocious puberty
What is the definition of precocious puberty in girls and in boys?
Signs of pubertal development before the age of 8 in girls (and before the age of 9 in boys)
What is the definition of delayed puberty?
Boys:
- No signs of testicular development by 14 years of age
Girls:
- No signs of breast development by 13 years of age
- Not started menstruating by 15 years of age
Hypothyroidism can be classified as either…
Congenital or acquired
How is congenital hypothyroidism tested for?
Newborn blood spot test
The most common cause of acquired hypothyroidism is…
Autoimmune thyroiditis (Hashimoto’s thyroiditis)
