Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling.

European journal of endocrinology / European Federation of Endocrine Societies

Volumn 168, Issue 2, 2013, Pages

  Lavery, G G ^a   Idkowiak, J ^b   Sherlock, M ^b   Bujalska, I ^b   Ride, J P ^b   Saqib, K ^b   Hartmann, M F ^b   Hughes, B ^b   Wudy, S A ^b   De Schepper, J ^b   Arlt, W ^b   Krone, N ^b   Shackleton, C H ^b   Walker, E A ^b   Stewart, P M ^b  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; GALACTOSE 6 PHOSPHATE DEHYDROGENASE; GALACTOSE-6-PHOSPHATE DEHYDROGENASE; OXIDOREDUCTASE; STEROID;

ADOLESCENT; ADRENARCHE; ADULT; ARTICLE; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; FEMALE; GENETICS; HIRSUTISM; HUMAN; HYPOPHYSIS ADRENAL SYSTEM; HYPOTHALAMUS HYPOPHYSIS SYSTEM; INBORN ERROR OF STEROID METABOLISM; MALE; METABOLISM; MIDDLE AGED; PRESCHOOL CHILD; SEX DIFFERENTIATION DISORDER; URINE;

11-BETA-HYDROXYSTEROID DEHYDROGENASES; 46, XX DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; ADRENARCHE; ADULT; CARBOHYDRATE DEHYDROGENASES; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HIRSUTISM; HUMANS; HYPOTHALAMO-HYPOPHYSEAL SYSTEM; MALE; MIDDLE AGED; PITUITARY-ADRENAL SYSTEM; STEROID METABOLISM, INBORN ERRORS; STEROIDS;

EID: 84874572089     PISSN: None     EISSN: 1479683X     Source Type: None    
DOI: 10.1530/EJE-12-0628     Document Type: Article

References (0)