Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)

European Journal of Endocrinology

Volumn 167, Issue 6, 2012, Pages 881-885

  Parajes, Silvia ^a   Chan, Angel O K ^b   But, W M ^b   Rose, Ian T ^a   Taylor, Angela E ^a   Dhir, Vivek ^a   Arlt, Wiebke ^a   Krone, Nils ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b QUEEN ELIZABETH HOSPITAL   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

C REACTIVE PROTEIN; CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); CORTICOTROPIN; DNA; FLUDROCORTISONE; HYDROCORTISONE; RENIN; TESTOSTERONE; TETRACOSACTIDE;

ADRENAL INSUFFICIENCY; ARTICLE; CASE REPORT; CHILD; COMPUTER ANALYSIS; CONTROLLED STUDY; CORTICOTROPIN BLOOD LEVEL; CRYPTORCHISM; DELAYED DIAGNOSIS; DISEASE SEVERITY; ENDOCRINE FUNCTION TEST; ENZYME DEFICIENCY; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HUMAN CELL; HYDROCORTISONE BLOOD LEVEL; HYPERKALEMIA; HYPERPIGMENTATION; IN VIVO STUDY; MALE; MALE GENITAL TRACT MALFORMATION; MICROPENIS; NUCLEOTIDE SEQUENCE; PENOSCROTAL HYPOSPADIAS; PLASMA RENIN ACTIVITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SEPSIS; SEQUENCE ALIGNMENT; SEX DIFFERENTIATION DISORDER; TESTOSTERONE BLOOD LEVEL; WILD TYPE;

ADRENAL INSUFFICIENCY; CHILD, PRESCHOOL; CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME; DELAYED DIAGNOSIS; HUMANS; MALE; MUTATION;

EID: 84869038181     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-12-0450     Document Type: Article

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