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hrp0098p2-402 | Late Breaking | ESPE2024

Evaluation of clinical characteristics and genotype-phenotype correlation of resistance to thyroid hormone receptor Beta (RTHβ) due to THRβ gene mutations

Gulal Gonul , Erozan Cavdarlı Busra , Bilge Koca Serkan , Toksoy Adiguzel Keziban , Topaloglu Oya , Aydin Cevdet , Hepsen Sema , Cakal Erman , Semerci Gunduz Nur , Boyraz Mehmet , Gurbuz Fatih , Demirbilek Huseyin

Background: Resistance to thyroid hormone β (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The study aim ed to evaluate the clinical, laboratory features, and genotype-phenotype relationship of Turkish patients with RTHβ.Patients and Methods: Patients who underwent a THRβ gene analysis betwe...

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hrp0098p2-311 | Late Breaking | ESPE2024

Genotype and phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type II (VDDRII): A nationwide multicenter retrospective cross-sectional study

Cayir Atilla , Turan Serap , Selver Eklioğlu Beray , Bayramoğlu Elvan , Unal Edip , Yildiz Melek , Acar Sezer , Eviz Elif , Dursun Fatma , Türkyılmaz Ayberk , Köprülü Özge , Özkaya Beyhan , Betül Kaygusuz Sare , Cantürk Merve , Sena Dönmez Ayşe , Turan Ihsan , Derya Kardelen Al Aslı , Buyukinan Muammer , Aydın Can , Dündar İsmail , Kırmızıbekmez Heves , Çamtosun Emine , Eroğlu Filibeli Berna , Akyürek Nesibe , Keskin Melikşah , Bilge Koca Serkan , Özkan Behzat , Bereket Abdullah , Demirbilek Huseyin

Background: Vitamin D Dependent Rickets Type-II (VDDRII) is a rare autosomal recessive disorder characterized by defects in its effect on the target organ due to mutations in the vitamin receptor (VDR) gene (Type 2) encoding for the active form 1,25 dihydroxyvitamin D.Objective and hypotheses: To evaluate the clinical characteristics, molecular genetics analysis results and long-term follow-up of a large nationwide cohor...

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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

Evaluation of clinical characteristics and genotype-phenotype correlation of resistance to thyroid hormone receptor Beta (RTHβ) due to THRβ gene mutations

Genotype and phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type II (VDDRII): A nationwide multicenter retrospective cross-sectional study

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

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