MIC-Metabolic Information Centre

··· Diseases ··· Symptoms ··· Lab Parameters ··· Authors ··· Ramedis ··· BH4 Patient

Disease	21-HYDROXYLASE DEFICIENCY (CYP21)
Synonym	ADRENAL HYPERPLASIA III; STEROID 21-HYDROXYLASE DEFICIENCY
OMIM	201910 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	steroid 21-hydroxylase Detailed enzyme information on www.expacy.ch
Gene locus	6p21.3 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Cytochrome P450, subfamily XXIA, polypeptide 2 (steroid 21-hydroxylase)
genetests.org	search search on genetest.org by MIM 201910 search search on genetest.org by HYDROXYLASE Testing - View a listing of laboratories that provide clinical testing for this disorder Research - View a listing of laboratories that provide testing on a research basis only. Reviews - Read the GeneReview for this disorder 1:500 - 1:5000 autosomal recessive - simple virilizing form - salt loosing form - attenuated form
Clinical symptoms	adrenal hyperplasia clitoral hypertrophy dehydration diarrhea genitalia, ambigous hyperpigmentation hypoglycemia hypotonia masculinisation of the female metabolic alkalosis vomiting
Abnormal Findings in blood	pH Normal: 7.35-7.45 no unit \| Significant : 7.30-7.60 no unit
Abnormal Findings in plasma	17-Hydoxypregnenolone \| Significant : - increased 17-Hydroxy-Progesteron Normal: 1.00-93.00 ng/dl \| Significant : 300.00-800.00 ng/dl 21-Deoxycortisol \| Significant : - increased ACTH \| Significant : - increased Aldosterone Normal: 5.00-60.00 ng/dl \| Significant : - increased Androstendione \| Significant : - increased Dehydroepiandrosterone (DHEA) \| Significant : - increased Progesterone Normal: 0.11-0.26 ng/ml \| Significant : - increased
Abnormal Findings in serum	Cortisol \| Significant : - decreased Glucose, >1 d Normal: 2.80-5.00 mmol/l \| Significant : 0.50-3.00 mmol/l Potassium Normal: 3.50-5.50 mmol/l \| Significant : 5.90-10.00 mmol/l Sodium Normal: 134.00-146.00 mmol/l \| Significant : 128.00-133.00 mmol/l
Abnormal Findings in urine	17-Ketosteroids \| Significant : - increased Pregnantriol \| Significant : - increased
Treatment	adrenalectomy corticosteroids dexamethasone mineralocorticoid sodium chloride
Literature	There are 12 publications available. Click here to open the relevant 21-HYDROXYLASE DEFICIENCY (CYP21) publications
Ramedis Case reports with long term followup	There are 2 patient data available. Click here to open the list of 21-HYDROXYLASE DEFICIENCY (CYP21) patients documented in Ramedis database