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Summary
21-HYDROXYLASE DEFICIENCY (CYP21)
ADRENAL HYPERPLASIA III STEROID 21-HYDROXYLASE DEFICIENCY
201910
OMIM = Online Medalian Inheritance of Men
90794
6p21.33

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • adrenalectomy
  • corticosteroids
  • dexamethasone
  • mineralocorticoid
  • sodium chloride
1:500 - 1:5000
autosomal recessive
simple virilizing form - salt loosing form - attenuated form
symptoms
adrenal hyperplasia
clitoral hypertrophy
dehydration
diarrhea
fever
genitalia, ambigous
hyperpigmentation
hypoglycemia
hypotonia
masculinisation of the female
metabolic alkalosis
virilisation
vomiting
laboratory finding
17-Hydroxy-Progesteron300.00800.001.0093.00ng/dlplasma
pH7.307.607.357.45no unitblood
Glucose0.503.002.805.00mmol/lserum
Potassium5.9010.003.505.50mmol/lserum
Sodium128.00133.00134.00146.00mmol/lserum
Aldosterone 5.0060.00increasedplasma
Progesterone 0.110.26increasedplasma
17-Hydroxypregnenolone increasedplasma
21-Deoxycortisol increasedplasma
Androstendione increasedplasma
Dehydroepiandrosterone (DHEA) increasedplasma
17-Ketosteroids0.000.00 increasedurineno data
ultrasound, abdominal, abnormal -
ECG abnormalities -
Adrenocorticotropic hormone (ACTH) increasedplasma
Cortisol decreasedserum
Pregnantriol0.000.00 increasedurineno data
Literature
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Chamberlin MEet al.Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiencyJ Clin Invest9841021-10271996
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Labrune Pet al.Familial hypermethioninemia partially respond to dietary restrictionJ Pediatr1170220-2261990
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Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
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Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Bakker HDet al.Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalitiesJ Inherit Metab Dis175640-6411994
Uyama Eet al.Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystoniaActa Neurol Scand866609-6151992
Labrune Pet al.Familial hypermethioninemia partially respond to dietary restrictionJ Pediatr1170220-2261990