Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 12, 2004, Pages 5930-5935

  Hasegawa, Tomonobu ^a   Fukami, Maki ^d   Sato, Naoko ^d   Katsumata, Noriyuki ^d   Sasaki, Goro ^a   Fukutani, Keiko ^b   Morohashi, Ken Ichirou ^c   Ogata, Tsutomu ^d  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Asoka Hospital   (Japan)

^c NATIONAL INSTITUTE FOR BASIC BIOLOGY   (Japan)

^d NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN; CORTICOTROPIN; FOLLITROPIN; GONADORELIN; GONADOTROPIN; HORMONE; HYDROCORTISONE; LUTEINIZING HORMONE; STEROID HORMONE; STEROIDOGENIC FACTOR 1; TESTOSTERONE;

ADRENAL FUNCTION; ADRENAL INSUFFICIENCY; ADULT; CASE REPORT; CLINICAL FEATURE; CLITORIS; CODON; CONFERENCE PAPER; ENDOCRINE FUNCTION; ENZYME ACTIVITY; EPIDIDYMIS; EXON; FEMALE; GENE MUTATION; GONADAL DYSGENESIS; HETEROZYGOSITY; HORMONAL THERAPY; HORMONE DETERMINATION; HORMONE SYNTHESIS; HUMAN; HYPOGONADISM; JAPAN; KARYOTYPE 46,XY; PRIORITY JOURNAL; PSYCHOSEXUAL DISORDER; SEQUENCE ANALYSIS; STEROID URINE LEVEL; TESTIS DEVELOPMENT; TRANSCRIPTION INITIATION; UTERUS; VAGINA; VAS DEFERENS;

ADULT; ALANINE; BASE SEQUENCE; BLOTTING, WESTERN; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FRAMESHIFT MUTATION; GENE DELETION; GLYCINE; GONADAL DYSGENESIS, 46,XY; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RECEPTORS, CYTOPLASMIC AND NUCLEAR; TESTIS; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

EID: 10344264981     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-0935     Document Type: Conference Paper

References (27)

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