Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A (6) Skordis, Nicos a,b Shammas, Christos b Efstathiou, Elisavet a Sertedaki, Amalia c Neocleous, Vassos b Phylactou, Leonidas b a Archbishop Makarios III Hospital (Cyprus) b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS (Cyprus) c UNIVERSITY OF ATHENS MEDICAL SCHOOL (Greece)

Hormones

Volumn 10, Issue 3, 2011, Pages 230-235

Author keywords

46; 5 reductase; Male pseudohermaphroditism; SRD5A2 gene; XY disorder of sex development (DSD)

Indexed keywords

ANDROSTANOLONE; CHORIONIC GONADOTROPIN; GENOMIC DNA; STEROID 5ALPHA REDUCTASE; TESTOSTERONE;

5ALPHA STEROID REDUCTASE DEFICIENCY; ADOLESCENT; ARTICLE; BREAST DEVELOPMENT; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DELAYED DIAGNOSIS; DNA SEQUENCE; ENZYME DEFICIENCY; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GONADECTOMY; GYNECOLOGICAL EXAMINATION; HETEROZYGOTE; HOMOZYGOTE; HORMONE SUBSTITUTION; HUMAN; INTRON; KARYOTYPE 46,XY; MUTATIONAL ANALYSIS; MUTATOR GENE; PHARMACOLOGICAL STIMULATION; PRIMARY AMENORRHEA; RARE DISEASE; STEROID 5ALPHA REDUCTASE 2 GENE; VAGINA DISEASE; VIRILIZATION;

EID: 80052904105     PISSN: 11093099     EISSN: None     Source Type: Journal    
DOI: 10.14310/horm.2002.1313     Document Type: Article

References (41)

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