Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome
| Autor: | Enrico Sartori, Pasquale Scagliola, Sergio Barlati, Elide Spinelli, Paola Clerici, Alessandro Gambera, Eleonora Marchina |
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| Rok vydání: | 2008 |
| Předmět: |
medicine.medical_specialty
Genetic counseling DNA Mutational Analysis Gonadal dysgenesis Biology Polymorphism Single Nucleotide Frameshift mutation Young Adult Internal medicine medicine Humans Genetic Predisposition to Disease Genes sry Codon Frameshift Mutation Amenorrhea Ultrasonography Gynecology Gonadal Dysgenesis 46 XY Cytogenetics Obstetrics and Gynecology Sex reversal medicine.disease Hormones Endocrinology Testis determining factor Phenotype Reproductive Medicine HMG-Box Domains Karyotyping Mutation (genetic algorithm) Mutation testing Female 5' Untranslated Regions |
| Zdroj: | Fertility and sterility. 91(3) |
| ISSN: | 1556-5653 |
| Popis: | Objective To determine the genetic cause of primary amenorrhea in a 46,XY woman. Design Case report. Setting Centre of Gynecological Endocrinology and Cytogenetics and Molecular Genetics Laboratory of university medical school. Patient(s) A 19-year-old woman referred for primary amenorrhea. Intervention(s) Clinical, endocrinologic, and ultrasonographic investigation and SRY mutation analysis. Main Outcome Measure(s) Hormone profile (LH, FSH, PRL, leptin, E 2 , 17α-hydroxyprogesterone, 3α-androstanediol glucuronide), ultrasonographic evaluation, clinical follow-up. Result(s) A new SRY sporadic mutation due to a single nucleotide insertion at codon 13 position 38 (38–39insA) was found in a 46,XY woman with sex reversal. This mutation determined a frameshift of the reading frame sequence and a protein truncation at codon 16. Clinical and endocrinologic data are reported. Conclusion(s) This is a new rare case of a single nucleotide insertion affecting the SRY gene in 46,XY females with sex reversal. This new mutation should be considered in genetic counseling. |
| Databáze: | OpenAIRE |
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