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Nueva variante del gen STAG3 causante de insuficiencia ovárica prematura
OBJECTIVES: To describe a case of ovarian failure secondary to a homozygous pathogenic variant in the STAG3 gene not previously reported. MATERIAL AND METHODS: A 16-year-old patient with primary amenorrhea and absence of secondary sexual characteristics, with documented autoimmune hypothyroidism, po...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Federación Colombiana de Obstetricia y Ginecología; Revista Colombiana de Obstetricia y Ginecología
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097685/ https://www.ncbi.nlm.nih.gov/pubmed/35503298 http://dx.doi.org/10.18597/rcog.3806 |
Sumario: | OBJECTIVES: To describe a case of ovarian failure secondary to a homozygous pathogenic variant in the STAG3 gene not previously reported. MATERIAL AND METHODS: A 16-year-old patient with primary amenorrhea and absence of secondary sexual characteristics, with documented autoimmune hypothyroidism, poor genital and gonadal streak development which prompted the performance of clinical exorne sequencing. A homozygous pathogenic variant not previously reported in the STAG3 gene, which has been associated with premature ovarian insufficiency (POI), was identified. CONCLUSIONS: In this case, clinical exorne sequencing was key for identifying a STAG gene abnormality, probably associated with POI and long term prognosis for the patient. A new pathogenic variant c.2773delT; p.Ser925Profs*6 of the STAG3 gene associated with POI was established. |
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