The first clinical presentation of disorders of sex development 46 XY due to mutation in Steroidogenic factor 1 (SF1) in Russian Literature
| Autor: | Anatoly Tiulpakov, Tatiana Aleksandrovna Anosova, Natalia Yur'evna Kalinchenko, Vitaliy Alekseevich Ioutsi |
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| Rok vydání: | 2016 |
| Předmět: |
Steroidogenic factor 1
Genetics endocrine system medicine.medical_specialty Mutation Adrenal failure Endocrinology Diabetes and Metabolism Biology medicine.disease medicine.disease_cause Phenotype Molecular analysis Endocrinology Nuclear receptor Internal medicine medicine Disorders of sex development Transcription factor |
| Zdroj: | Problems of Endocrinology. 62:55-59 |
| ISSN: | 2308-1430 0375-9660 |
| DOI: | 10.14341/probl201662155-59 |
| Popis: | Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a critical role in different processes of sex development. Homozygous mutations in SF1 result in adrenal failure and complete testicular disgenesis in 46,XY individuals. According to recent studies heterozygous mutations in SF1 are associated with milder phenotype: they are found in children with 46,XY disorders of sex development (DSD) but with apparently normal adrenal structure and function. Here we present for the first time in Russian literature a case of SF1 deficiency. Molecular genetic analysis of NR5A1 gene revealed a novel heterozygous mutation c.951delC p.H317QfsX17. This clinical case demonstrates the importance of molecular genetic studies in DSD 46,XY, especially severe forms. |
| Databáze: | OpenAIRE |
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