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![What is CAH? It is a familial disorder of adrenal](/_ipx/f_webp&q_80&fit_contain&s_1440x1080/imagesDir/jpg/380889/slide-1.jpg)
What is CAH?
It is a familial disorder of adrenal steroid biosynthesis
due to adrenal enzyme deficiency with autosomal recessive mode of inheritance.
Classical CAH is a sever homozygotic disorder with an incidence of 1 : 7,000-15,000
Non-classical CAH is less sever heterozygotic disorder with an incidence of 1 : 500-1,000
3 major enzymes deficiency are clinically important
21-Hydroxylase deficiency (90%-95%)
11-b-Hydroxylase deficiency
17-a-Hydroxylase deficiency
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![Adrenal steroids biosynthesis](/_ipx/f_webp&q_80&fit_contain&s_1440x1080/imagesDir/jpg/380889/slide-2.jpg)
Adrenal steroids biosynthesis
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![21-Hydroxylase deficiency The most common CAH type reduced production of](/_ipx/f_webp&q_80&fit_contain&s_1440x1080/imagesDir/jpg/380889/slide-3.jpg)
21-Hydroxylase deficiency
The most common CAH type
reduced production of cortisol and
aldosterone and increased production of progesterone; 17-OHP, and sex steroids.
Heterozygous carriers can be detected by ACTH stimulation test.
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![Classical 21-hydroxylase deficiency Salt-wasting form (75%): unable to synthesize adequate](/_ipx/f_webp&q_80&fit_contain&s_1440x1080/imagesDir/jpg/380889/slide-4.jpg)
Classical 21-hydroxylase deficiency
Salt-wasting form (75%): unable to synthesize adequate amounts of
cortisol and aldosterone, lose large amounts of sodium in urine, which can lead to fatal electrolyte and water imbalance. Babies usually present with "adrenal crisis” on week 1-4 (poor appetite, vomiting and failure to grow).
Simple virilizing form (25% ): Excessive prenatal production of androgens in females results in ambiguous genitalia. Males are usually normal at birth with precocitous puberty. In both sexes, linear growth is accelerated, but the epiphyses fuse early, leading to short stature with a well-developed trunk.
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![Non-classical 21-hydroxylase deficiency Usually is mild and manifest as an](/_ipx/f_webp&q_80&fit_contain&s_1440x1080/imagesDir/jpg/380889/slide-5.jpg)
Non-classical 21-hydroxylase deficiency
Usually is mild and manifest as an androgen excess
later in life. Aldosterone and cortisol deficiency isn’t usually observed.
Female manifestations: hirsutism, acne, male-pattern balding, oligomenorrhea, infertility.
Male manifestations: general asymptomatic, short stature, sometimes oligospermia.
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![Diagnosis of 21-hydroxylase deficiency Screening: high blood level of 17-OH](/_ipx/f_webp&q_80&fit_contain&s_1440x1080/imagesDir/jpg/380889/slide-6.jpg)
Diagnosis of 21-hydroxylase deficiency
Screening: high blood level of 17-OH Progesterone
250 MKG
SYNACTHEN TEST:
high level of 17-OHP
low/normal cortisol and aldosterone
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![11-hydroxylase (CYP11B1) deficiency 11-hydroxylase Hypertension and hypokalemia occur because of](/_ipx/f_webp&q_80&fit_contain&s_1440x1080/imagesDir/jpg/380889/slide-7.jpg)
11-hydroxylase (CYP11B1) deficiency
11-hydroxylase
Hypertension and hypokalemia occur
because of accumulation
of 11-deoxycorticosterone,
a potent mineralocorticoid,
which causes the excessive
salt retention.
Girls with ambiguous genitalia
Girls and boys with precocious puberty
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![17-hydroxylase (CYP11B1) deficiency 17α-hydroxylase Hypertension and hypokalemia occur due to](/_ipx/f_webp&q_80&fit_contain&s_1440x1080/imagesDir/jpg/380889/slide-8.jpg)
17-hydroxylase (CYP11B1) deficiency
17α-hydroxylase
Hypertension and hypokalemia occur due to accumulation of aldosterone
No
female virilizaton
Male ambiguous genitalia or female phenothype
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![Diagnosis 11-hydroxylase deficiency 250 MKG SYNACTHEN TEST: high serum level](/_ipx/f_webp&q_80&fit_contain&s_1440x1080/imagesDir/jpg/380889/slide-9.jpg)
Diagnosis
11-hydroxylase deficiency
250 MKG SYNACTHEN TEST: high serum level of
11-deoxycorticosterone and 11-deoxycortisol
elevated 24-hour urinary 17-ketosteroids
17-hydroxylase deficiency
low K, high Aldosterone, suppressed Renin
Low 17-OHP, androgens
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![TREATMENT PRINCIPLES In classical CAH treatment is life-long Treatment goals](/_ipx/f_webp&q_80&fit_contain&s_1440x1080/imagesDir/jpg/380889/slide-10.jpg)
TREATMENT PRINCIPLES
In classical CAH treatment is life-long
Treatment goals are:
to maintain
growth velocity & skeletal maturation.
to normalize electrolytes & hormone levels using the smallest dose of glucocorticoids.
mineralocorticoid replacement may be needed to sustain normal electrolyte homeostasis.
Plastic surgery for ambiguous genitalia at early age
Genetic counseling
Psychological support
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![Prenatal diagnosis and treatment Done by chorionic villus sampling at](/_ipx/f_webp&q_80&fit_contain&s_1440x1080/imagesDir/jpg/380889/slide-11.jpg)
Prenatal diagnosis and treatment
Done by chorionic villus sampling at 8-12 wk
& amniocentesis at 18-20 wk.
Prenatal treatment of 21-hydroxylase deficiency prevents intrauterine virilization of female fetuses.
The mother with nonclassical CAH is treated with dexamethasone as soon as the pregnancy is recognized until fetus sex determination.