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hrp0089p2-p029 | Adrenals and HPA Axis P2 | ESPE2018

Two Siblins and Three Cousins with Allgrove (4A) Syndrome in a Turkısh Family: A Novel Mutation in the ‘Aladin’ Gene

Akinci Aysehan , Dundar Ismail , Camtosun Emine , Kayas Leman

Allgroves or 4A syndrome is a rare autosomal recessive multisystem disorder characterised by adrenocorticotropin hormone resistant adrenal insufficiency,alacrima ,achalasia and neurological abnormalities. The disease-causing gene (AAAS) encodes a protein of 546 amino acids called aladin (for alacrima-achalasia-adrenal insufficiency-neurologic disorder). We report two siblings and three cousins suffering from Allgrove syndrome in a Turkish family. ...

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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

Two Siblins and Three Cousins with Allgrove (4A) Syndrome in a Turkısh Family: A Novel Mutation in the ‘Aladin’ Gene

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

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