hrp0092p1-91 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Panhypopituitarism Due to a Novel Heterozygous IVS11-2AC(c.1957-2AC) Mutation in GLI2 Gene

demiral meliha , unal edip , kardas burcu , demirbilek hüseyin , ozbek mehmet nuri

Objective: Glioblastoma 2 (encoded by GLI 2 gene), is an activating zinc-finger transcription factor, involved in the Sonic Hedgehog pathway and embryogenesis of diencephalon and distal extremities Heterozygous mutations of GLI2 gene cause a wide range of clinical phenotype known as holoprosencephaly and holoprosencephaly-like syndrome, pituitary insufficiency, mid-facial hypoplasia, and polydactyly. We, herein, report a novel heterozygous IV...

hrp0092p1-254 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

A Novel Approach for the Evaluation of Hypothalamic-Pituitary Region in Patients with Growth Hormone Deficiency: Pons Ratio

Demiral Meliha , Karaca Mehmet Salih , Unal Edip , Baysal Birsen , Baran Riza Taner , Demirbilek Huseyin , Ozbek Mehmet Nuri

Objective: In patients with growth hormone deficiency (GHD), even in those with no major organic lesion, anterior pituitary height (APH) is reported decreased. Limitations in the evaluation of APH and changes according to pubertal status make its validity questionable. Recently, in a small scale study, pons ratio (PR) has been suggested as a more sensitive marker for evaluation of pituitary gland in GHD patients. The study aims to evaluate the validity of PR a...

hrp0092rfc15.2 | Late Breaking Abstracts | ESPE2019

BMP4 Mutations as a Novel Cause of Normosmic Hypogonadotropic Hypogonadism

Topaloglu A. Kemal , Yildirim Ruken , Damla Kotan Leman , Akkus Gamze , Unal Edip , Turan Ihsan , Dilek Semine , Tastan Mehmet , Gurbuz Fatih , Yuksel Bilgin

BMP4, a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily, is involved in the embryonic development of various organ and tissues including the cranio-facial structures, olfactory placode, pituitary, eyes, heart, and kidneys. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. BMP4 plays an important role in the embryonic development of the GnRH neurons ...

hrp0089rfc11.2 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Nationwide Hypophosphatemic Rickets Study

Siklar Zeynep , Turan Serap , Bereket Abdullah , Abacı Ayhan , Baş Firdevs , Demir Korcan , Guran Tulay , Akberzade Azad , Bober Ece , Ozbek Mehmet Nuri , Kara Cengiz , Poyrazoğlu Şukran , Aydın Murat , kardelen Aslı , tarım Omer , Eren Erdal , Hatipoğlu Nihal , Buyukinan Muammer , Akyurek Nesibe , Cetinkaya Semra , Bayramoğlu Elvan , Eklioğlu Beray Selver , Ucakturk Ahmet , Abalı Saygın , Gokşen Damla , Kor Yılmaz , Unal Edip , Esen Ihsan , Yıldırım Ruken , Akın Onur , Cay Atilla , Dilek Emine , Kırel Birgul , Anık Ahmet , Catlı Gonul , Berberoğlu Merih

Aim: Hypophosphatemic rickets (HR) is a rare renal phosphate wasting disorder commonly related to X-linked form, caused by PHEX mutations and it treatment and follow-up is challenging due to imperfect treatment options. Here we presented nationwide data on HR with initial and follow-up data on the patients presented to the pediatric endocrinology clinics before the age of 18 years.Results: From 24 centers, 158 patients (93 male/65 female) were i...