New STAG3 gene variant as a cause of premature ovarian insufficiency
DOI:
https://doi.org/10.18597/rcog.3806Keywords:
hypogonadism, primary ovarian insufficiency, gonadal dysgenesis, autoimmunity, whole exome sequencingAbstract
Objectives: To describe a case of ovarian failure secondary to a homozygous pathogenic variant in the STAG3 gene not previously reported.
Materials 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 exome 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 exome 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.
Keywords: hypogonadism, primary ovarian insufficiency, gonadal dysgenesis, autoimmunity, complete exome sequencing.Author Biographies
Susana Gómez-Rojas, Universidad de Antioquia, Medellín (Colombia)
Residente de endocrinología pediátrica, Universidad de Antioquia, Medellín (Colombia).
Jorge Enrique Aristizábal-Duque , Universidad de Antioquia, Medellín (Colombia)
Ginecólogo y obstetra, Universidad de Antioquia; especialista en medicina de la reproducción, Universidad de Montpellier I; profesor titular de la Universidad de Antioquia, área de Ginecología endocrinológica; miembro de número FECOLSOG, Medellín (Colombia).
Luisa Fernanda Muñoz-Fernández , Universidad de Antioquia, Medellín (Colombia)
Ginecóloga y obstetra de la Universidad de Antioquia, profesora de la Universidad de Antioquia, área de Ginecología endocrinológica; Fellow Colegio Americano de Ginecología y obstetricia ACOG, Medellín (Colombia).
María Paula Sarmiento-Ramón , Clínica FOSCAL, Bucaramanga (Colombia)
Endocrinóloga pediatra de la Universidad de Antioquia, Clínica FOSCAL, Bucaramanga (Colombia).
María del Pilar Pereira-Gómez, Universidad de Antioquia, Medellín (Colombia)
Residente de endocrinología pediátrica de la Universidad de Antioquia, Medellín (Colombia).
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