46,XY DSD due to impaired androgen production

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 24, Issue 2, 2010, Pages 243-262

  Mendonca, Berenice B ^a   Costa, Elaine M F ^a   Belgorosky, Alicia ^b   Rivarola, Marco Aurelio ^b   Domenice, Sorahia ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

Author keywords

5 reductase type 2 deficiency; Leydig cell hypoplasia; LHCGR defects; Smith Lemli Opitz syndrome; testosterone synthesis defects

Indexed keywords

17 HYDROXYPREGNENOLONE; 3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; ANDROGEN; ANDROSTANOLONE; CHOLESTEROL; CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); CORTICOTROPIN; CYTOCHROME B5; CYTOCHROME P450 17; CYTOCHROME P450C17; ESTROGEN; GLUCOCORTICOID; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MINERALOCORTICOID; PREGNENOLONE; PROGESTERONE; STEROID 17ALPHA MONOOXYGENASE; STEROID 5ALPHA REDUCTASE 2; STEROIDOGENIC ACUTE REGULATORY PROTEIN; TESTOSTERONE ESTER; LUTEINIZING HORMONE RECEPTOR; TESTOSTERONE;

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE TYPE II DEFICIENCY; 46 XY DISORDER OF SEX DEVELOPMENT; ADRENAL FUNCTION; ADRENAL HYPERPLASIA; ADRENAL INSUFFICIENCY; ANDROGEN SYNTHESIS; AUTISM; AUTOSOMAL RECESSIVE INHERITANCE; CELL DIFFERENTIATION; CELL MIGRATION; CELL PROLIFERATION; CHOLESTEROL SIDE CHAIN CLEAVAGE; CLINICAL ASSESSMENT; CONGENITAL ADRENAL HYPERPLASIA; CORTICOSTEROID THERAPY; CYSTOURETHROGRAPHY; CYTOCHROME P450C17 DEFICIENCY; CYTOCHROME P450SCC DEFICIENCY; DEVELOPMENTAL DISORDER; DIET SUPPLEMENTATION; ENZYME DEFICIECNY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GROWTH RETARDATION; GYNECOMASTIA; HORMONE SUBSTITUTION; HUMAN; HYPOPLASIA; HYPOSPADIAS; KARYOTYPE 46,XY; KARYOTYPING; LEYDIG CELL; LEYDIG CELL HYPOPLASIA; LOSS OF FUNCTION MUTATION; MENTAL DEFICIENCY; METHEMOGLOBINEMIA; MICROPENIS; MUSCLE HYPOTONIA; NIEMANN PICK DISEASE; P450 OXIDOREDUCTASE DEFICIENCY; PHENOTYPE; PROTEIN DEFICIENCY; REVIEW; SEX DIFFERENTIATION DISORDER; SEXUAL DEVELOPMENT; SMITH LEMLI OPITZ SYNDROME; STEROID 17ALPHA MONOOXYGENASE DEFICIENCY; STEROIDOGENESIS; TESTOSTERONE METABOLISM; TESTOSTERONE SYNTHESIS; UROGENITAL TRACT RADIOGRAPHY; ADULT; BIOSYNTHESIS; CHILD; FEMALE; GENETICS; GONADAL DYSGENESIS; INFANT; MALE; NEWBORN; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; ANDROGENS; CELL DIFFERENTIATION; CHILD; FEMALE; GLUCOCORTICOIDS; GONADAL DYSGENESIS, 46,XY; HUMANS; INFANT; INFANT, NEWBORN; LEYDIG CELLS; MALE; MINERALOCORTICOIDS; RECEPTORS, LH; SEX DIFFERENTIATION DISORDERS; SMITH-LEMLI-OPITZ SYNDROME; TESTOSTERONE;

EID: 77956621494     PISSN: 1521690X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beem.2009.11.003     Document Type: Review

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