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ea0073aep577 | Reproductive and Developmental Endocrinology | ECE2021

A novel heterozygous mutation in CYP19A1 Gene c.456_462del p.(Ser153Profs*24) in a girl with aromatase deficiency

Isabel Inácio , Mafalda Simões , Leitão Martins Vânia , Geraldes Fernanda , Cardoso Rita , Serra-Caetano Joana , Dinis Isabel , Mirante Alice

BackgroundAromatase deficiency is an extremely rare autosomal recessive condition due to mutations on CYP19A1 gene. Despite the size and complexity of this gene, only about 40 cases with aromatase deficiency have been reported.Case reportThe patient was born at term from non-consanguineous parents. Maternal signs of virilization were verified during third trimester (deep voice, acne on arms and face ...

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ea0073pep4.7 | Presented ePosters 4: Reproductive and Developmental Endocrinology | ECE2021

Functional ovarian reserve in women with infertility and euthyroidism: what is the role of thyroid autoimmunity?

Alexandra Festas Silva Diana , Carvalho Tânia , Maresch Ângela , Catarino Diana , Fadiga Lúcia , Reis Guiomar Joana , Gomes Leonor , Leitão Fátima , Cortesão Paulo , Almeida Santos Teresa , PAIVA Isabel

IntroductionThyroid dysfunction is the most common endocrine disorder in women of childbearing age, and is associated with menstrual irregularities, anovulation and infertility. Whether it is thyroid function and/or thyroid autoimmunity (AI) that affects functional ovarian reserve remains to be clarified.AimTo evaluate the association between functional ovarian reserve and thyroid AI in women with infertility...

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Endocrine Abstracts

A novel heterozygous mutation in CYP19A1 Gene c.456_462del p.(Ser153Profs*24) in a girl with aromatase deficiency

Functional ovarian reserve in women with infertility and euthyroidism: what is the role of thyroid autoimmunity?

BiosciAbstracts