Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A<G mutation of the SRD5A2 gene in an adolescent girl presented with primary amenorrhea

Keyphrases

• Late Diagnosis 100%
• Steroid Reductase 100%
• SRD5A2 Gene 100%
• Primary Amenorrhea 100%
• Adolescent Girls 100%
• Reductase 60%
• Greek Cypriots 20%
• Testosterone 20%
• Uterus 20%
• Gonadectomy 20%
• At Birth 20%
• Splicing mutation 20%
• Ultrasound 20%
• DNA Sequencing 20%
• Puberty 20%
• Molecular Analysis 20%
• Exon 20%
• Exon 2 20%
• Chromosomal Microarray 20%
• Founder Effect 20%
• Clinical Spectrum 20%
• Virilization 20%
• XY Karyotype 20%
• 46,XY 20%
• Hormonal Replacement Therapy 20%
• Heterozygote 20%
• Pubic Hair 20%
• Non-consanguineous 20%
• Gene Defects 20%
• Vaginal Cavity 20%
• Homozygosity 20%
• Acceptor Site 20%
• Inguinal Canal 20%
• Male Phenotype 20%
• Gonad 20%
• Gender Transition 20%
• Clitoromegaly 20%
• External Genitalia 20%
• Consanguineous Parents 20%
• Feminization 20%
• Breast Development 20%

Medicine and Dentistry

• Primary Amenorrhea 100%
• Steroid 5alpha Reductase 100%
• Oxidoreductase 100%
• Adolescence 100%
• Exon 66%
• DNA Sequence 33%
• Substitution Therapy 33%
• Founder Effect 33%
• Inguinal Canal 33%
• Intron 33%
• Chromosome Analysis 33%
• Homozygosity 33%
• Thelarche 33%
• Binding Site 33%
• Karyotype 46,XY 33%
• Virilization 33%
• Gonad 33%
• Gonadectomy 33%
• Clitoromegaly 33%
• Feminization 33%

Biochemistry, Genetics and Molecular Biology

• Oxidoreductase 100%
• Reductase 100%
• SRD5A2 100%
• Adolescence 100%
• Exon 40%
• Binding Site 20%
• Intron 20%
• DNA Sequence 20%
• Founder Effect 20%
• Karyotype 46,XY 20%
• Virilization 20%
• Homozygosity 20%
• Breast Development 20%