Congenital adrenal hyperplasia Flashcards
(25 cards)
What kind of disease is congenital adrenal hyperplasia?
A rare inherited condition present at birth
Autosomal recessive
What are risk factors for inheriting congenital adrenal hyperplasia?
Both parents are carriers
Certain ethnic groups eg. Ashkenazi Jews, Hispanics, Italians, Yugoslavians and Yupik inuits
What are the types of congenital adrenal hyperplasia?
Classical and non-classical
What is classical congenital adrenal hyperplasia?
More severe
Detected in newborn screening programme
2/3 salt-losing form
1/3 virilising form
What are the main symptoms of classical congenital adrenal hyperplasia?
46 XX have genital ambiguity due to increased testosterone production
Ambiguous external genitalia
Normal internal sex organs
What is the effect of loss of cortisol production?
Salt-losing form
Simple-virilising form
What is the effect of loss of aldosterone production?
Salt-losing form
What is the effect of excess male sex hormones?
Short height
Early puberty
Ambiguous genitalia
What is adrenal crisis?
Caused by severely low levels of cortisol in the blood
Diarrhoea, vomiting, dehdydration, low blood glucose and shock
Life threatening
Requires immediate treatment
Hyperkalaemia
Does not occur in non-classical CAH
What are ambiguous genitalia?
Enlarged clitoris, genitals look more male than female
What is non-classical congenital adrenal hyperplasia?
Milder
Appears in childhood/ early adulthood
More common
What are symptoms of non-classical congenital adrenal hyperplasia?
Irregular or absent menstrual periods
Masculine characteristics
Severe acne
What is a common internal symptom of congenital adrenal hyperplasia?
Adrenomegaly
How is congenital adrenal hyperplasia diagnosed?
Adrenomegaly
Increased androgen production
Lack of mineralocorticoids and/or glucocorticoids
What tests can diagnose congenital adrenal hyperplasia?
Physical exam
Blood and urine tests
Genetic testing
CT scan
How is congenital adrenal hyperplasia treated?
Not treatable but can treat the symptoms
How is lack of aldosterone treated?
Give aldosterone
Treat to reduce sex hormones
How is glucocorticoid deficiency treated?
Cortisol replaced
Must avoid iatrogenic Cushing’s
What is the main cause of congenital adrenal hyperplasia?
95% cases
21-hydroxylase deficiency
What is the mechanism of 21-hydroxylase deficiency?
Enzyme needed to produce cortisone and aldosterone
No negative feedback
Elevated ACTH
Adrenal hyperplasia in response
DHEA production increased
Cholesterol enters only androgen route
46 XX differential sexual differentiation
What are the symptoms of 21 hydroxylase deficiency?
Decreased glucocorticoid and mineralocorticoid
Increased sex hormones
What is the prevalence and what are the symptoms of aldosterone deficiency?
75% of classical congenital adrenal hyperplasia
Dehydration
Hypovolaemia
Hypotension
What mutations other than 21 hydroxylase cause congenital hyperplasia?
17alpha hydroxylase
11beta hydroxylase
3beta hydroxylase
What is congenital lipoid adrenal hyperplasia?
Mutations in CYP11A1 and StAR
