Diagnosis of 17β-hydroxysteroid dehydrogenase deficiency

Expert Review of Endocrinology and Metabolism

Volumn 4, Issue 1, 2009, Pages 53-65

  Bertelloni, Silvano ^a   Dati, Eleonora ^a   Hiort, Olaf ^b  

^a UNIVERSITY HOSPITAL OF PISA   (Italy)

^b UNIVERSITY OF LÜBECK   (Germany)

Author keywords

17 HSD3; 17 hydroxysteroid dehydrogenase type 3 deficiency; Disorders of sex development; HSD17B3; Male female sex reversal; Testosterone 4 androstenedione ratio

Indexed keywords

ANDROSTENEDIONE; CHORIONIC GONADOTROPIN; CONJUGATED ESTROGEN; ESTRADIOL; ETHINYLESTRADIOL; TESTOSTERONE; TESTOSTERONE 17BETA DEHYDROGENASE;

17BETA HYDROXYSTEROID DEHYDROGENASE DEFICIENCY; CHROMOSOME MUTATION; DIFFERENTIAL DIAGNOSIS; DISORDERS OF SEX DEVELOPMENT; DRUG DOSE INCREASE; ENDOCRINE FUNCTION TEST; ENZYME DEFICIENCY; ESTROGEN THERAPY; FERTILITY; GENE MUTATION; GENETIC ANALYSIS; GENITAL MALFORMATION; HUMAN; KARYOTYPE 46,XX; LABORATORY DIAGNOSIS; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; REVIEW; SEX DETERMINATION; SEX DIFFERENTIATION; SEX ROLE; SEXUAL DEVELOPMENT; SEXUAL ORIENTATION;

EID: 69949144676     PISSN: 17446651     EISSN: None     Source Type: Journal    
DOI: 10.1586/17446651.4.1.53     Document Type: Review

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