Sexual Development

Question 1

What is the main pathophysiology of congenital adrenal hyperplasia?

Answer 1

21-alpha-hydroxlase deficiency:

1. No cortisol production, ACTH rises.
2. Backlog through steroidogenesis pathway.
3. Rise in testosterone.

Question 2

How do girls with congenital adrenal hyperplasia present?

Answer 2

At birth with ambiguous genitalia and virilisation

Question 3

How do boys with congenital adrenal hyperplasia present?

Answer 3

Later than girls (as genitalia is not ambiguous) with salt-losing crisis.

Question 4

What is this a presentation of?

During first weeks of life, dehydration, vomiting, hypotension, low sodium, high potassium.

Answer 4

Salt-wasting form of congenital adrenal hyperplasia

Question 5

What is this a presentation of?

Female, 8 years old, virilisation, clitoromegaly/phallic enlargement, acne, no electrolyte disturbances.

Answer 5

Simple virilising form of congenital adrenal hyperplasia

Question 6

What is this a presentation of?
Male, 9 years old, premature puberty, acne, genitoscrotal hyperpigmentation, enlargement of the penis, no electrolyte disturbance.

Answer 6

Simple virilising form of congenital adrenal hyperplasia

Question 7

How does the non-classical form of congenital adrenal hyperplasia present?

Answer 7

1. Symptoms of hyperandrogenism
2. Develop during and after puberty
3. Most frequent form of 21-alpha-hydroxylase deficiency
4. Females in later life with suspected PCOS

Question 8

How is congenital adrenal hyperplasia investigated?

Answer 8

1. Increased 17-OH-progesterone is classic
2. Hypoglycaemia
3. Hyponatraemia, hyperkalaemia (if 21OH, if 11bOH then revered)
4. Raised testosterone
5. General work up - karyotype, pelvic USS for sexual organs

Question 9

What is the management of congenital adrenal hyperplasia?

Answer 9

1. Hydrocortisone replacement for all
2. Fludrocortisone replacement if salt-wasting
3. Can treat prenatally with dexamethasone to suppress ACTH.