Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5α-reductase 2 deficiency

Keyphrases

• Female Patients 100%
• Male Patients 100%
• Reductase 100%
• Large Pedigree 100%
• Biochemical Detection 100%
• Genetic Findings 100%
• Gender Roles 33%
• Puberty 33%
• Spermatogenesis 33%
• Point mutation 33%
• Southern Lebanon 33%
• Exon 33%
• Amino Acid Substitution 33%
• Coding Sequence 33%
• Derangement 33%
• Leucine 33%
• Glutamine 33%
• Skin Fibroblasts 33%
• Semen Analysis 33%
• Sperm Motility 33%
• Molecular Genetic Testing 33%
• Thymidine 33%
• Menstrual Cycle 33%
• Direct Sequencing 33%
• Exon 1 33%
• Clinical Syndromes 33%
• Specific PCR 33%
• SRD5A2 33%
• Masculinization 33%
• Female Genitalia 33%
• Single-strand Conformation Polymorphism 33%
• Virilization 33%
• Low Sperm Count 33%
• Adrenal Steroids 33%
• Testicular Histology 33%
• Peripheral Leukocytes 33%
• Male Pseudohermaphroditism 33%
• Bilateral Orchidectomy 33%
• Genital Skin 33%
• Maturation Arrest 33%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Exon 100%
• Reductase 100%
• Pedigree 100%
• Oxidoreductase 100%
• Virilization 100%
• Spermatogenesis 50%
• Adenine 50%
• Molecular Genetics 50%
• Leucine 50%
• Glutamine 50%
• Polymerase Chain Reaction 50%
• Thymidine 50%
• Corticosteroid 50%
• SRD5A2 50%
• Single-Strand Conformation Polymorphism 50%
• Point Mutation 50%
• Maturation 50%
• Fibroblast 50%
• Leukocyte 50%
• Amino Acid Substitution 50%
• Menstrual Cycle 50%
• Sex Role 50%