Congenital adrenal hyperplasia Flashcards Preview

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Flashcards in Congenital adrenal hyperplasia Deck (10):
1

Definition

Family of inhertited disorders->enzyme disorders which impair normal corticosteroid synthesis
Most commonly 21 hydroxylase

2

Pathogenesis

21 hydroxylase deficiency= -ve cortisol-->++ACTH= adrenal hyperplasia which +androgen production

Internal female tract normal. Post natal virilisation->rapid growth, premature development of public hair, advanced epiphyseal maturation= precocious puberty, early fusion, short.

+Androgens= -ve feedback to gonadotropins->impair gonadal growth and function.

When deficiency severe, aldosterone production insufficient->salt wasting

3

Key diagnostic factors

genetic predisposition (common)
weight loss (common)
failure to thrive (common)
vomiting (common)
hypotension (common)
ambiguous genitalia (common)
hyperpigmentation (common)

poor feeding (common)
irregular menses (common)
infertility (common)
male-pattern baldness (females) (common)
short stature (common)
precocious puberty (common)
polycystic ovaries (common)
hirsutism (common)
severe cystic acne (uncommon)

4

Investigations

Serum 17 hydroxyprogesterone-> +for age
Serum chemistry->hyponatremia, hyperkalemia, metabolic acidosis, azotemia
microfilter paper radioimmunoassay for 17-hydroxyprogesterone-> + in newborn
Genetics
ACTH stimulation test->early morning 17 hydroxyprogesterone inappropriately elevated
FISH for karyotyping

5

Differential diagnosis

Addisons
Gender identity disorder
Familial glucocorticoid syndrome
Renal salt-wasting

6

What is classical simple virilising

Female genital ambiguity.
Hyperpigmentation only sign in males (genitalia not affected)
Infertility
Precocious puberty, rapid somatic growth
Early epiphyseal closure
Temporal balding, severe acne, irregular menses, hirsutism

7

Classical salt wasting

Poor feeding
Weight loss
FT
Vomiting
Diarrhea
Hypotension
Hyponatremia
Hyperkalemia, metabolic acidosis
Adrenal crisis

8

Findings in adrenal crisis

Azotemia
Vascular collapse
Shock
Death

9

Non classical in adults

Females have normal genitalia
hirsutism, temporal baldness, delayed menarche, menstural irregularities, infertility
Men- early beard growth, enlarged phallus, small testes

10

Management

Acute
during surgery, febrile illness, or other stress
1st line: stress-dose glucocorticoid

Ongoing
classical simple viriliser
infant or child
1st line: glucocorticoid->dexamenthasone or prednisilone
adjunct: growth hormone ± gonadotrophin-releasing hormone analogue-> Somatropin + Leuprorelin
adjunct: genital surgery

adult with full linear height reached
1st line: glucocorticoid

classical salt-wasting form
infant or child
1st line: glucocorticoid
adjunct: mineralocorticoid + sodium chloride
adjunct: growth hormone ± gonadotrophin-releasing hormone
adjunct: genital surgery

adult
1st line: glucocorticoid
adjunct: mineralocorticoid

non-classical form
infant or child
1st line: glucocorticoid
adjunct: growth hormone ± gonadotrophin-releasing hormone analogue

adult with full linear height reached
1st line: glucocorticoid

When fertility not desired->OCP, anti-androgens for hirsutism/virilisation