Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome

Endocrine Journal

Volumn 53, Issue 3, 2006, Pages 371-376

  Miyoshi, Yoko ^a   Santo, Yoko ^a   Tachikawa, Kanako ^b   Namba, Noriyuki ^a,c   Hirai, Haruhiko ^a   Mushiake, Sotaro ^a   Nakajima, Shigeo ^a   Michigami, Toshimi ^b   Ozono, Keiichi ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c OSAKA UNIVERSITY   (Japan)

Author keywords

Frasier syndrome; Hemodialysis; Pseudohermaphroditism; Steroid resistant nephrotic syndrome; Wilms' tumor 1 gene

Indexed keywords

ADENINE; ANTIHYPERTENSIVE AGENT; CALCITRIOL; CORTICOSTEROID; ERYTHROPOIETIN; ESTRADIOL; FOLLITROPIN; GONADOTROPIN; GROWTH HORMONE; GUANINE; LUTEINIZING HORMONE; PARATHYROID HORMONE;

ABNORMALLY HIGH SUBSTRATE CONCENTRATION IN BLOOD; ADOLESCENT; ANAMNESIS; ARTICLE; BLOOD EXAMINATION; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CORTICOSTEROID THERAPY; DELAYED PUBERTY; DNA EXTRACTION; DNA SPLICING; ESTRADIOL BLOOD LEVEL; FEMALE; FRASIER SYNDROME; GENETIC ANALYSIS; GONAD DYSFUNCTION; GONADOTROPIN BLOOD LEVEL; HEMODIALYSIS; HETEROZYGOSITY; HUMAN; INTRON; KARYOTYPE 46,XY; KIDNEY DISEASE; KIDNEY FUNCTION; LABORATORY TEST; MALE PSEUDOHERMAPHRODITISM; NEPHROTIC SYNDROME; ONCOGENE; PATIENT COMPLIANCE; PHENOTYPE; POINT MUTATION; WILM TUMOR 1 GENE;

ADOLESCENT; BASE SEQUENCE; ESTRADIOL; FATAL OUTCOME; FEMALE; FRASIER SYNDROME; GONADAL DYSGENESIS, 46,XY; HETEROZYGOTE; HUMANS; KIDNEY FAILURE, CHRONIC; PHENOTYPE; POINT MUTATION; PUBERTY, DELAYED; RENAL DIALYSIS;

EID: 33745605761     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K05-180     Document Type: Article

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