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hrp0097p2-268 | Late Breaking | ESPE2023

Clinical characteristics, molecular genetics analysis results and long-term follow-up of a large cohort of congenital hyperinsulinism from Turkey: A nationwide cross-sectional study

Demirbilek Huseyin , Nuri Ozbek M , Yıldız Melek , LA Houghton Jayne , Onal Hasan , Gurbuz Fatih , Cetinkaya Semra , Cayir Atilla , Denkboy-Ongen Yasemin , Parlak Mesut , Gurpınar Tosun Busra , Mert Erbas Ibrahim , Akinci Aysehan , Okdemir Deniz , Anik Ahmet , Direk-Trabzon Gul , Acar Sezer , Yildirim Ruken , Celebi-Bitkin Eda , Turan Hande , Aydin Murat , Keskin Mehmet , Kilinc Suna , Curek Yusuf , Turan Ihsan , Mengen Eda , Odabas Sevinc , Akin Onur , Ozalkak Servan , Vuralli Dogus , Atalay Ilknur , Uçar Ahmet , Yuksel Bilgin , Ellard Sian , Hussain Khalid , E Flanagan Sarah

Objective: Congenital Hyperinsulinism(CHI) is a clinically, genetically, and histologically heterogeneous disease. Turkey is a county with highly prevalent cases of severe CHI due to the high rate of consanguinity and recessively inherited KATP gene mutations. We herein evaluated the clinical characteristics, molecular genetic analysis, and follow-up of a large nationwide cohort of CHI from Turkey.Patients and method: Th...

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hrp0097p1-154 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Central Precocious Puberty in Boys; Diagnosis, Treatment and Follow-up: A Nation-Wide Study

Odabasi Gunes Sevinc , Sakar Merve , Muratoglu Sahin Nursel , Karaguzel Gulay , Ayça Cimbek Emine , Darendeliler Feyza , Sarban Ezgi , Doger Esra , Onder Ganimet , Siklar Zeynep , Senyazar Gizem , Murat Aydin Aydin Hasan , Ozkan Behzat , Sangun Ozlem , Parlak Mesut , Akin Onur , Cansu Sahin Kadriye , Esen Ihsan , Kilinc Ugurlu Aylin , Seymen Gulcan , Bolu Semih , Sobu Elif , Ozalkak Servan , Demet Akbas Emine , Buyukyilmaz Gonul , Selver Eklioglu Beray , Ucar Ahmet , Kocaay Pinar , Tunc Selma , Bas Serpil , Dundar Ismail , Celebi Bitkin Eda , Torel Ergur Ayca , Bingol Aydin Dilek , Kirel Birgul , Ata Aysun , Atar Muge , Isakoca Mehmet , Hatun Aytac Kaplan Emel , Kontbay Tugba , Tepe Derya , Ercan Oya , Boyraz Mehmet , Akyurek Nesibe , Unal Edip , Ozcan Murat Nurhan , Bilge Koca Serkan , Kocabey Sutcu Zumrut , Çetinkaya Semra

Objective: The aim of this study was to evaluate demographic characteristics; clinical, laboratory, imaging features; and response to treatment of boys who were followed up and treated with the diagnosis of central precocious puberty (CPP) in Turkiye.Materials and Methods: The study was planned as a multicenter, retrospective study. Cases with a diagnosis of CPP, whose follow-up data were available were included. Patient...

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ESPE Abstracts

Clinical characteristics, molecular genetics analysis results and long-term follow-up of a large cohort of congenital hyperinsulinism from Turkey: A nationwide cross-sectional study

Central Precocious Puberty in Boys; Diagnosis, Treatment and Follow-up: A Nation-Wide Study

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