[3Beta-hydroxysteroid dehydrogenase deficiency]. 2006

Yutaka Goto, and Toshihiko Yanase
Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University.

UI MeSH Term Description Entries
D008901 Mineralocorticoids A group of CORTICOSTEROIDS primarily associated with water and electrolyte balance. This is accomplished through the effect on ION TRANSPORT in renal tubules, resulting in retention of sodium and loss of potassium. Mineralocorticoid secretion is itself regulated by PLASMA VOLUME, serum potassium, and ANGIOTENSIN II. Mineralocorticoid,Mineralocorticoid Effect,Mineralocorticoid Effects,Effect, Mineralocorticoid,Effects, Mineralocorticoid
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005938 Glucocorticoids A group of CORTICOSTEROIDS that affect carbohydrate metabolism (GLUCONEOGENESIS, liver glycogen deposition, elevation of BLOOD SUGAR), inhibit ADRENOCORTICOTROPIC HORMONE secretion, and possess pronounced anti-inflammatory activity. They also play a role in fat and protein metabolism, maintenance of arterial blood pressure, alteration of the connective tissue response to injury, reduction in the number of circulating lymphocytes, and functioning of the central nervous system. Glucocorticoid,Glucocorticoid Effect,Glucorticoid Effects,Effect, Glucocorticoid,Effects, Glucorticoid
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000312 Adrenal Hyperplasia, Congenital A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders. Congenital Adrenal Hyperplasia,Hyperplasia, Congenital Adrenal,Adrenal Hyperplasias, Congenital,Congenital Adrenal Hyperplasias,Hyperplasias, Congenital Adrenal
D015096 3-Hydroxysteroid Dehydrogenases Catalyze the oxidation of 3-hydroxysteroids to 3-ketosteroids. 3-beta-Hydroxysteroid Dehydrogenase,3 Hydroxysteroid Dehydrogenases,3 beta Hydroxysteroid Dehydrogenase,Dehydrogenase, 3-beta-Hydroxysteroid,Dehydrogenases, 3 Hydroxysteroid,Dehydrogenases, 3-Hydroxysteroid,Hydroxysteroid Dehydrogenases, 3
D025202 Molecular Diagnostic Techniques MOLECULAR BIOLOGY techniques used in the diagnosis of disease. Molecular Testing,Molecular Diagnostic Technics,Molecular Diagnostic Testing,Diagnostic Technic, Molecular,Diagnostic Technics, Molecular,Diagnostic Technique, Molecular,Diagnostic Techniques, Molecular,Diagnostic Testing, Molecular,Molecular Diagnostic Technic,Molecular Diagnostic Technique,Technic, Molecular Diagnostic,Technics, Molecular Diagnostic,Technique, Molecular Diagnostic,Techniques, Molecular Diagnostic,Testing, Molecular,Testing, Molecular Diagnostic

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