17β-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17βHSD3 gene

Journal of Pediatric Endocrinology and Metabolism

Volumn 25, Issue 5-6, 2012, Pages 561-563

  Alikasifoglu, Ayfer ^a   Hiort, Olaf ^b   Gonc, Nazli ^a   Demirbilek, Huseyin ^a   Isik, Emregul ^a   Kandemir, Nurgun ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY OF LÜBECK   (Germany)

Author keywords

17 HSD 3; 46,XY DSD; Virilization

Indexed keywords

17BETA HYDROXYSTEROID DEHYDROGENASE TYPE 3; ANDROSTANOLONE; SEX HORMONE; TESTOSTERONE; TESTOSTERONE 17BETA DEHYDROGENASE; UNCLASSIFIED DRUG; 17BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 3; HYDROXYSTEROID DEHYDROGENASE;

17BETA HYDROXYSTEROID DEHYDROGENASE TYPE 3 DEFI CIENCY; ADOLESCENT; AMENORRHEA; ARTERIAL PRESSURE; ARTICLE; BASE PAIRING; BODY HEIGHT; BODY WEIGHT; BREAST DEVELOPMENT; CASE REPORT; ECHOGRAPHY; ENZYME DEFICIENCY; EXON; FEMALE; GENDER IDENTITY; GENE AMPLIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GONADECTOMY; HERNIOPLASTY; HIRSUTISM; HISTOPATHOLOGY; HOMOZYGOSITY; HORMONE SUBSTITUTION; HUMAN; HUMAN TISSUE; INGUINAL HERNIA; KARYOTYPE; KARYOTYPING; LEYDIG CELL; MUSCLE MASS; MUTATIONAL ANALYSIS; PELVIS RADIOGRAPHY; POLYMERASE CHAIN REACTION; PSYCHOLOGIC ASSESSMENT; PUBERTY; SEMINIFEROUS TUBULE; SEQUENCE ANALYSIS; SERTOLI CELL; SEX DIFFERENTIATION DISORDER; SPERMATOGONIUM; TESTIS; TESTOSTERONE BLOOD LEVEL; VIRILIZATION; GENE DELETION; GENETICS; GONADAL DYSGENESIS; HOMOZYGOTE; MALE; PATHOLOGY;

17-HYDROXYSTEROID DEHYDROGENASES; 46, XX DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; FEMALE; GENE DELETION; GONADAL DYSGENESIS, 46,XY; HOMOZYGOTE; HUMANS; MALE; PUBERTY;

EID: 84865747015     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2012-0009     Document Type: Article

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