hrp0092p2-45 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Two Siblings with Hypophosphatemic Rickets: SLC34A3 Gene Mutations with Different Clinical Phenotypes

Karakilic-Ozturan Esin , Ozturk Ayse Pinar , Kardelen Al Asli Derya , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza

Background: Hereditary hypophosphatemic rickets with hypercalciuria(HHRH; OMIM: 241530) is a rare autosomal recessive disorder,which is the result of loss-of-function mutations in the sodium-phosphate-cotransporter NPT2c.This disorder is characterized by renal phosphate(Pi) wasting,hypercalciuria,increased 1,25 (OH)2-D levels and decreased parathormone(PTH) levels.Here we report the clinical features of two siblings with HHRH,confirmed with molecula...

hrp0092p2-270 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Follow-up of Individuals with Gender Identity Disorders: A Long and Challenging Process

Ozturan Esin Karakilic , Ozturk Ayse Pinar , Kardelen Al Asli Derya , Poyrazoglu Sukran , Bas Firdevs , Ayaz Ayse Burcu , Yuksel Sahika , Darendeliler Feyza

Background/Aim: Gender identity disorder (GID) is a condition, which is characterized by incongruence between experienced gender and the natal-sex, which also causes deterioration of functionality. After psychiatric evaluations, medical treatment for adolescents with GID consists of 3 phases. First phase is the suppression of puberty with GnRH-analogues, which may be considered to be supporting the diagnostic process. In the second phase, cross-sex steroid hor...

hrp0092p1-390 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Genetic Evaluation of Idiopathic Short Stature

Karaman Birsen , Bas Firdevs , Najafli Adam , Avci Sahin , Kardelen Al Asli Derya , Toksoy Güven , Altunoglu Umut , Poyrazoglu Sükran , Uyguner Zehra Oya , Darendeliler Feyza , Basaran Seher

Introduction: Short stature is a multifactorial condition caused by both genetic and environmental factors. Genetic causes include chromosomal disorders and diseases inherited by monogenic and multifactorial inheritance. The purpose of genetic evaluation in short stature is not only for diagnosis, but also to provide additional information to the patients and their families about prognosis of the disease, treatment approaches and genetic counseling.<p clas...

hrp0092p1-145 | Thyroid | ESPE2019

The Investigation of Genetic Etiology in Familial Cases with Congenital Hypothyroidism

Kardelen Al Asli Derya , Isik Fatma Büsra , Özturan Esin Karakiliç , Sözügüzel Mavi Deniz , Öztürk Ayse Pinar , Poyrazoglu Sükran , Parlayan Cüneyd , Cangül Hakan , Bas Firdevs , Darendeliler Feyza

Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this study was to determine the genetic and etiological factors of CH.Methods: 49 patients(female;n=24), from 24 families were included in the study. The data, collected retrospectively, consisted ...