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Summary
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
17-ALPHA-HYDROXYLASE DEFICIENCY (CYP17) 17,20-LYASE DEFICIENCY, ISOLATED, INCLUDED
202110
OMIM = Online Medalian Inheritance of Men
90793
10q24.32
  • corticosteroids
rare (>120 cases)
autosomal recessive
Combined 17-alpha-Hydroxylase/17,20-Lyase Deficiency - Isolated 17,20-Lyase Deficiency (very rare) females show hypogonadism, males show ambigous genitalia
symptoms
adrenal hyperplasia
amennorrhea
cryptorchism
genitalia, ambigous
gynecomastia
hypertension
metabolic alkalosis
puberty, delayed or missing
laboratory finding
11-Deoxycorticosterone 240.00370.00increasedplasma
11-Deoxycorticosterone 0.000.00increasedurine
18-Hydroxydeoxycorticosterone increasedplasma
18-Hydroxydeoxycorticosterone 0.000.00increasedurine
Corticosterone increasedplasma
Pregnenolone increasedplasma
Progesterone increasedplasma
Cortisol decreasedplasma
Adrenocorticotropic hormone (ACTH) 10.0020.00increasedplasma
Tetrahydro-11-deoxycorticosterone 0.000.00increasedurine
Tetrahydro-11-deoxycortisol 0.000.00increasedurine
Sodium 135.00145.00increasedserum
Potassium 3.505.50decreasedserum
Glucocorticoids abnormalplasma
Deoxycorticosterone (DOC) increasedplasma
17-Hydroxy-Progesterone decreasedplasma
Adrenocorticotropic hormone (ACTH)0.000.00 increasedserum
Literature
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