encyclopedia of medical concepts
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Steroid Metabolism, Inborn Errors
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Definition
: Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.
coord IM with specific steriod/metab (IM);
Examples
Adrenal Hyperplasia, Congenital
;
Antley-Bixler Syndrome Phenotype
;
Ichthyosis, X-Linked
;
Mineralocorticoid Excess Syndrome, Apparent
;
Smith-Lemli-Opitz Syndrome
Other names
Steroid Metabolic Diseases, Inborn; Inborn Errors of Steroid Metabolism; Congenital Errors of Steroid Metabolism
Substance
CAS Registry & name
Categories
Source
Lathosterolosis
0
*Steroid Metabolism, Inborn Errors
Oxidoreductases Acting on CH-CH Group Donors/deficiency.
17-
Hydroxysteroid Dehydrogenase Deficiency
0
*Gynecomastia
*Steroid Metabolism, Inborn Errors
*46, XY Disorders of Sex Development
17-Hydroxysteroid Dehydrogenases/deficiency.
Lyngstadaas syndrome
0
*Tooth, Supernumerary/genetics
*Steroid Metabolism, Inborn Errors
3-Hydroxysteroid Dehydrogenases/deficiency.
Clin Genet. 49(5):249-54
Peroxisomal bifunctional enzyme deficiency
0
*Hypogonadism
*Steroid Metabolism, Inborn Errors
17-Hydroxysteroid Dehydrogenases/deficiency.
Cortisone reductase deficiency
0
*Hirsutism/congenital
*Steroid Metabolism, Inborn Errors
*46, XX Disorders of Sex Development
11-beta-Hydroxysteroid Dehydrogenases/deficiency.
Pseudovaginal perineoscrotal hypospadias
0
*Hypospadias
*Steroid Metabolism, Inborn Errors
*46, XY Disorders of Sex Development
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/deficiency.
