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hrp0097p1-451 | Fat, Metabolism and Obesity | ESPE2023

Diagnostic Journey with an 80-gene Panel in Non-syndromic Early-Onset Severe Obesity: Association of Outcomes with Metabolic Status and Hyperphagia

Tercan Ummahan , Yildiz Melek , Dilruba Aslanger Ayca , Derya Kardelen Al Asli , Poyrazoglu Sükran , Bas Fİrdevs , Darendeliler Feyza

Background: Monogenic defects are among the significant causes of early-onset non-syndromic severe obesity in childhood. Identifying the genetic cause of obesity can guide for treatment. The aim of our study is to investigate the clinical and biochemical features of patients with early-onset severe obesity and evaluate the underlying molecular diagnosis.Materials and Methods: A total of 39 patients (M/F: 22/17) with non-...

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hrp0097p2-50 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A Rare Diagnosis in a Virilized Adolescent with a 46,XX Karyotype: Gonadoblastoma with Dysgerminoma

Kandemir Tugce , Karakilic Ozturan Esin , Dural Ozlem , Aslanger Ayca , Inan Balci Elif , Bayram Aysel , Onder Semen , Yildiz Melek , Poyrazoglu Sukran , Darendeliler Feyza , Bas Firdevs

Key words: Dysgerminoma, gonadoblastoma, virilizationIntroduction: Gonadoblastoma is a rare ovarian tumor composed of sex cord cells and primitive germ cells. Although it is frequently seen in patients with 46,XY gonadal dysgenesis, it is also rarely seen in patients with a 46,XX karyotype. Here, we report a girl with a 46,XX karyotype presenting due to an uncommon cause of virilization, which was caused by bilateral gon...

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ESPE Abstracts

Diagnostic Journey with an 80-gene Panel in Non-syndromic Early-Onset Severe Obesity: Association of Outcomes with Metabolic Status and Hyperphagia

A Rare Diagnosis in a Virilized Adolescent with a 46,XX Karyotype: Gonadoblastoma with Dysgerminoma

BiosciAbstracts