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hrp0086p1-p11 | Adrenal P1 | ESPE2016

Evaluation of the Glucocorticoid, Mineralocorticoid, and Adrenal Androgen Secretion Dynamics in A Large Cohort of Patients Aged 6–18 Years with Transfusion-dependent β-Thalassemia Major, with an Emphasis on the Impact of Cardiac Iron Load

Ucar Ahmet , Oner Nergiz , Ozek Gulcihan , Cetincakmak Mehmet Guli , Abuhandan Mahmut , Yildirim Ali , Kaya Cemil , Unverdi Sena , Emeksiz Hamdi Cihan , Yilmaz Yasin , Yetim Aylin

Background: The variable presence of adrenal insufficiency (AI) due to hypocortisolemia (HC) in patients with thalassemia is well established; however, the prevalence of adrenocortical hypofunction (ACH) in the zona glomerulosa and zona reticularis of the adrenal cortex is unknown.Objective and hypotheses: To establish the prevalence of ACH, we examined the cortisol response to 1 μg- and 250 μg- ACTH tests, plasma aldosterone (A)/plasma renin a...

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hrp0098p2-72 | Diabetes and Insulin | ESPE2024

Neonatal Diabetes Due to Insulin Gene Mutation

Bakır Gizem , Büyükinan Muammer , Bora Ulukapı Hasan , Melek Oğuz Melahat , Öner Nergiz , Fettah Ali , Aslı Bala Keziban , Kurnaz Erdal , Keskin Melikşah , Savaş Erdeve Şenay

Introduction: IPEX Syndrome (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) is characterized by mutations in the Forkhead BoxP3 (FOXP3) transcription factor, leading to autoimmunity in various organs starting in the perinatal period. This syndrome manifests with proliferative lesions in the thyroid gland, gastrointestinal system, skin, and other organs. We report a case of a 4-month-old male with neonatal diabetes, resistant thrombocytopenia,...

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ESPE Abstracts

Evaluation of the Glucocorticoid, Mineralocorticoid, and Adrenal Androgen Secretion Dynamics in A Large Cohort of Patients Aged 6–18 Years with Transfusion-dependent β-Thalassemia Major, with an Emphasis on the Impact of Cardiac Iron Load

Neonatal Diabetes Due to Insulin Gene Mutation

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