17α-hydroxylase 17,20-Lyase deficiency due to novel compound heterozygote mutations: Treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister

Journal of Pediatric Endocrinology and Metabolism

Volumn 18, Issue 4, 2005, Pages 403-411

  Schwab, Karl Otfried ^a   Moisan, Anne Marie ^d   Homoki, Janos ^b   Peter, Michael ^c   Simard, Jacques ^d  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF ULM   (Germany)

^c Sanitas Ostseeklinik Boltenhagen   (Germany)

^d LAVAL UNIVERSITY   (Canada)

Author keywords

17 Hydroxylase 17,20 lyase deficiency; CYP17 gene mutations; Growth reduction therapy; in vitro expression studies; Male pseudohermaphroditism

Indexed keywords

17 HYDROXYPREGNENOLONE; ANDROSTANOLONE; CONJUGATED ESTROGEN; CYTOCHROME P450C17; ESTRADIOL; HYDROCORTISONE; ARGININE; ESTROGEN; LEUCINE; PROLINE; STEROID 17ALPHA MONOOXYGENASE;

ADULT; ARTICLE; BODY HEIGHT; BONE AGE; CASE REPORT; CYTOCHROME P450C17 DEFICIENCY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ESTRADIOL BLOOD LEVEL; EXON; FEMALE; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC TRANSFECTION; GERMANY; HETEROZYGOSITY; HORMONE BLOOD LEVEL; HORMONE DETERMINATION; HORMONE URINE LEVEL; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; IN VITRO STUDY; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MALE PSEUDOHERMAPHRODITISM; MENSTRUATION DISORDER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; RISK REDUCTION; TALL STATURE; ADOLESCENT; CONGENITAL ADRENAL HYPERPLASIA; GENETICS; GROWTH DISORDER; HETEROZYGOTE; MUTATION; ORCHIECTOMY; PSEUDOHERMAPHRODITISM; PUBERTY; STOP CODON;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; ARGININE; BODY HEIGHT; CODON, NONSENSE; ESTROGENS; ESTROGENS, CONJUGATED (USP); FEMALE; GROWTH DISORDERS; HETEROZYGOTE; HUMANS; LEUCINE; MUTATION; MUTATION, MISSENSE; ORCHIECTOMY; PROLINE; PSEUDOHERMAPHRODITISM; PUBERTY; STEROID 17-ALPHA-HYDROXYLASE;

EID: 17144431449     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2005.18.4.403     Document Type: Article

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