Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p136 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | IMPE2023

Differences of Sex Development Associated to Asymmetrical Overgrowth in a Patient with Chromosomal Mosaicism.

Quarracino Malena , Terada Claudia , Daroqui Manuel , Baialardo Edgardo , Ramirez Pablo , Perez Garrido Natalia , Marino Roxana , Miglieta Aldo , Caino Silvia , Moresco Angelica , Gabriela Obregon Maria , Belgorosky Alicia , Alonso Cristina , Berensztein Esperanza , Vaiani Elisa

Differences of sex development (DSD) with asymmetrical overgrowth is a very rare condition that can be secondary to a chromosomal mosaicism (ChM). ChM is usually a post zygote event and arises when two or more cell lines with different chromosomal constitutions are present in the same individual. Usually distinctive methodologies approaches are required to reach the diagnosis. Our objective is to describe a patient with asymmetrical overgrowth and DSD and the methodological st...

impe0096fc3.1 | Endocrinology of Sex Differences 1 | IMPE2023

Characterization and follow-up of a cohort of thirty patients with 46,XX testicular/ovotesticular disorders of sexual development

Celeste Mattone María , Berensztein Esperanza , Marino Roxana , Sol Touzón María , Marcela Bailez María , Nielsen Vanina , Weller Santiago , Laura Galluzzo Mutti María , Manuel Lazzati Juan , Belén Martinez María , Bulgach Valeria , César Ramírez Pablo , Pérez Garrido Natalia , Ciaccio Marta , Belgorosky Alicia , Guercio Gabriela , Costanzo Mariana

Background: 46,XX testicular/ovotesticular disorders of sexual development (T/OT DSD) are infrequent congenital conditions characterized by the presence of functional ovarian and testicular parenchyma or only testicular tissue in 46,XX individuals. Affected subjects present with different degrees of virilization of the external genitalia and development of Müllerian and Wolffian derivatives. Our knowledge about these conditions has been enlightened with t...