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hrp0095rfc11.6 | Late Breaking | ESPE2022

Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1a): A nationwide multicentre retrospective cross-sectional study

Cayir Atilla , Demirbilek Huseyin , Turkyılmaz Ayberk , Turan Serap , Bereket Abdullah , Darendeliler Feyza , Nuri Özbek Mehmet , Ünal Edip , Okdemir Deniz , Esen Ihsan , Eren Erdal , Yıldırım Ruken , Çetinkaya Semra , Cansu Sahin Kadriye , Anık Ahmet , Sena Dönmez Ayşe , Pınar Öztürk Ayşe , Bayramoğlu Elvan , Buyukinan Muammer , Gurbuz Fatih , Demir Korcan , Kılınç Suna , Betul Kaygusuz Sare , Çelmeli Gamze , Selvi Eklioglu Beray , Acar Sezer , Dursun Fatma , Turan Ihsan , Özkaya Beyhan , Kurnaz Erdal , Taner Baran Rıza , Özkan Behzat

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...

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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

Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1a): A nationwide multicentre retrospective cross-sectional study

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

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