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Summary
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY (CAH)
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
mutation in the CYP21A2 gene
simple virilizing form - salt loosing form - attenuated form
symptoms
adrenal hyperplasia
clitoral hypertrophy
dehydration
diarrhea
fever
genitalia, ambigous
hyperkalemia
hyperpigmentation
hypoglycemia
hypotonia
masculinisation of the female
metabolic alkalosis
onset, adolescent
onset, adulthood
onset, childhood
onset, infancy
onset, neonatal
virilisation
vomiting
laboratory finding
17-Hydroxy-Progesterone300.00800.001.0093.00ng/dlplasma
pH7.307.607.357.45no unitblood
D-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
Androstenedione increasedplasma
Dehydroepiandrosterone (DHEA) increasedplasma
17-Ketosteroids0.000.00 increasedurineno data
ultrasound, abdominal, abnormal -
ECG abnormalities -
Adrenocorticotropic hormone (ACTH) increasedplasma
Cortisol decreasedserum
Pregnanediol0.000.00 increasedurineno data
Renin activity (PRA) or renin increasedplasma
Literature
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Chamberlin MEet al.Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiencyJ Clin Invest9841021-10271996
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
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Labrune Pet al.Familial hypermethioninemia partially respond to dietary restrictionJ Pediatr1170220-2261990
Labrune Pet al.Familial hypermethioninemia partially respond to dietary restrictionJ Pediatr1170220-2261990
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Fukumizu Met al.Tay-Sachs disease: progression of changes on neuroimaging in four casesNeuroradiology346483-4861992
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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
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Labrune Pet al.Familial hypermethioninemia partially respond to dietary restrictionJ Pediatr1170220-2261990