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hrp0089p2-p239 | Growth & Syndromes P2 | ESPE2018

Heart and Aorta Anomalies in Turner Syndrome and Relation with Karyotype

Kardelen Aslı Derya , Darendeliler Feyza , Gencay Genco , İnce Zuhal , Aliyev Behruz , Ozturan Esin Karakılıc , Abalı Zehra Yavaş , Poyrazoğlu Şukran , Nişli Kemal , Baş Firdevs

Introduction: Turner Syndrome (TS) is known to be associated with a high risk of cardiac anomalies and cardiovascular diseases. Detailed cardiac evaluation at diagnosis and serial evaluation for dissection is warranted.Aim: This study aimed to evaluate TS patients for cardiac pathology using MRI.Methods: Clinical findings, karyotypes, echocardiogram results, cardiac MRI findings of 33 patients with TS were evaluated. Measurements o...

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hrp0089p1-p200 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

PROKR2 Mutations in Patients with Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

Najaflı Adam , Baş Firdevs , Karaman Birsen , Al Aslı Derya Kardelen , Toksoy Guven , Poyrazoğlu Şukran , Uyguner Oya , Avcı Şahin , Altunoğlu Umut , Ozturan Esin Karakılıc , Başarn Seher , Darendeliler Feyza

Background: Rokineticin receptors (PROKR1 and PROKR2) belong to the family of G protein-coupled receptors. Bi-or mono allelic mutations in PROKR2 gene have been identified in Kallmann syndrome which is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. Recently, PROKR2 mutations were reported in patients with multiple pituitary hormone (MPHD) and growth hormone deficiencies (GHD), suggesting a potential role for the PROK2 p...

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ESPE Abstracts

Heart and Aorta Anomalies in Turner Syndrome and Relation with Karyotype

PROKR2 Mutations in Patients with Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

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