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Summary
17-ALPHA-HYDROXYLASE DEFICIENCY (CYP17)
ADRENAL HYPERPLASIA V STEROID 17-ALPHA-HYDROXYLASE DEFICIENCY
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
amennorrhea
genitalia, ambigous
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-Progesteron decreasedplasma
Adrenocorticotropic hormone (ACTH)0.000.00 increasedserum
Literature
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Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Bibi Het al.Transcobalamin II deficiency with methylmalonic aciduria in three sistersJ Inherit Metab Dis227765-7721999
Polak MShield JNeonatal and very-early-onset diabetes mellitusSemin Neonatol9159-652004
Thomas PKHoffbrand AVHereditary transcobalamin II deficiency: a 22 year follow upJ Neurol Neurosurg Psychiatry6221971997
Labrune Pet al.Familial hypermethioninemia partially respond to dietary restrictionJ Pediatr1170220-2261990
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Crawley Aet al.Monitoring dose response of enzyme replacement therapy in feline mucopolysaccharidosis type VI by tandem mass spectrometryPediatr Res554585-5912004