Disease Deficiency/ Defect Abnormal Levels Symptoms Notes

21-Hydroxylase
Deficiency*** (Exam
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Most common form of
CAH ( > 90% of cases),
both partial and complete
deficiencies are known
No enzyme to convert
progesterone and OH-
progesterone into
aldosterone and cortisol
No Aldosterone or
Cortisol
Massive amounts of
androgens produced
Therefore only androgens
can be produced as no
negative feedback from
cortisol
Salt Wasting (Complete deficiency) Adrenal Crisis (salt
losing CAH) Occurs when aldosterone production is
affected leading to circulatory collapse and vomiting
Hypotension and Hyperkalemia
Hypoglycemia
Female virilization ambiguous genitalia Enlarged
clitoris at birth (posterior labial fusion, no vaginal opening)
d/t excess testosterone
o Deep voice and facial hair
o Inability to menstruate
o Late onset CAH: causes hirsutism and infertility
Male Puberty begins much earlier (appear normal at birth)
Boys: normal at birth but will have penile enlargement, early
pubic hair and rapid growth in height when child in 4 or 5
Investigation: screening by 17-
-hydroxyprogesterone in a
blood spot in the presence of
clinical symptoms
o In borderline tests, a
synacthen test can measure
17--hydroxyprogesterone
before and after synacthen
administration
o Urinary steroid profile can be
used
Treat via cortisol will
suppress ACTH system
Treatment Replacement of
glucocorticoids +
mineralocorticoids
17 OH deficiency Sex and stress lost, but
salt preserved
cortisol ACTH
production
ACTH production
adrenal hyperplasia
Virtually no sex hormones
or cortisol are produced
Mineralocorticoids production Na
+
and fluid retention
hypertension and hypkalemia
HTN BP ECF Na
+
and H
2
O
o Aldosterone and Deoxycorticosterone
o Renin and Angiotensin II
Corticosterone will partially compensate for the
glucocorticoids
Androgen production in fetus is a problem with male
structures, & loss of axillary and pubic hair in females
Ambiguous genitalia in males and in females, there is delayed
puberty absent secondary sexual characteristics or primary
amenorrhea
Treatment Replacement of
glucocorticoids
Aldosterone antagonist i.e.
spironolactone
11- hydroxylase
deficiency
Deficiency-lose salt
and stress but maintain
sex and
deoxycorticosterone
Serum Cortisol,
Aldosterone,
corticosterone
Deoxycorticosterone (Na
+
retention) causes fluid
retention this hormone
suppresses RAAS low-
renin hypertension
ACTH
11, Deoxycorticosterone is a weak mineralocorticoid if >> is
produced Na
+
and H
2
O BP and Renin and
Aldosterone
Virilizing syndrome in females
Effects on prepubertal males
Masculinization and virilization as with 21--hydroxylase
deficiency