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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
amenorrhea
cryptorchism
episodic course (clinical symptoms)
genitalia, ambigous
gynecomastia
hypertension
hypokalemia
metabolic alkalosis
onset, adolescent
onset, adulthood
onset, childhood
onset, infancy
onset, neonatal
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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