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Revista Colombiana de Obstetricia y Ginecología
versão impressa ISSN 0034-7434versão On-line ISSN 2463-0225
Resumo
GOMEZ-ROJAS, Susana et al. New STAG3 gene variant as a cause of premature ovarian insufficiency. Rev Colomb Obstet Ginecol [online]. 2022, vol.73, n.1, pp.142-148. Epub 30-Mar-2022. ISSN 0034-7434. https://doi.org/10.18597/rcog.3806.
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.
Palavras-chave : Hypogonadism; primary ovarian insufficiency; gonadal dysgenesis; autoimmunity; complete exorne sequencing..
