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hrp0094p2-434 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

A case of gender developmental disorder with difficulty in molecular diagnosis: New variant in NR5A1 gene

Arslan Emrullah , Solmaz Aslı Ece , Aykut Ayca , Durmaz Asude , Atik Tahir , Goksen Damla , Ulman Ibrahim , Ozbaran Burcu , Ozen Samim , Darcan Sukran

"Steroidogenic Factor-1" (SF-1); It is encoded by the NR5A1 gene in 9q 33.3 and regulates the transcription of genes involved in steroidogenesis. It is reported that 46 of the variants in this gene constitute 10-20% of XY sex development disorders (DSD). The patient admitted because of a swelling in the left groin at one month old. She was raised as female. Uterus was 12x2.5 mm in ultrasonography and the gonad in the inguinal region was evaluated as testis. She was P...

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hrp0097p1-265 | Fat, Metabolism and Obesity | ESPE2023

Evaluation of Clinical and Genetic Characteristics of Non-Syndromic Monogenic Obese Patients

Özalp Kızılay Deniz , Durmaz Asude , Arslan Emrullah , Jalilova Arzu , Gül Balkı Hanife , Aykut Ayça , Gökşen Damla , Darcan Şükran , Özen Samim

Keywords: Non-syndromic obesity, single gene disorder, child.Objective: This study aimed to evaluate the clinical characteristics, molecular genetic analysis results, and obesity-related comorbidities of patients with non-syndromic monogenic obesityMaterials and Methods: The results of a targeted next-generation sequence analysis panel (Clinical Exome Solution v2 - SOPHiA GENETICS)...

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ESPE Abstracts

A case of gender developmental disorder with difficulty in molecular diagnosis: New variant in NR5A1 gene

Evaluation of Clinical and Genetic Characteristics of Non-Syndromic Monogenic Obese Patients

BiosciAbstracts