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...

hrp0094p1-182 | Pituitary B | ESPE2021

Sequence of MKRN3 and DLK1 genes in cases with familial central precocious puberty

Karaman Volkan , Karakilic-Ozturan Esin , Bas Firdevs , Poyrazoglu Sukran , Basaran Seher , Darendeliler Feyza , Oya Uyguner Zehra ,

Background: Approximately one-third of the central precocious puberty (CPP) cases have familial transitions. Although more than 30 genes related to puberty have been reported to date, only a few (KISS1, KISS1R, MKRN3, DLK1 and PROKR2) were associated with CPP. This study aims to reveal the associated sequence variants of MKRN3 and DLK1 genes in cases with familial CPP and their etiology.Method:...

hrp0095p1-351 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Evaluation of Early Puberty in Patients with MC2R Deficiency

Karakilic Ozturan Esin , Bas Firdevs , Yavas Abali Zehra , Karaman Volkan , Poyrazoğlu Sukran , Oya Uyguner Zehra , Darendeliler Feyza

Background: Melanocortin receptor 2 (MC2R) is expressed in the adrenal cortex and has a major role in the control of the hypothalamic-pituitary-adrenal axis. It is reported that the ACTH receptor MC4R has an impact on premature adrenarche. The melanocortin signaling system is reported to have leptin mediated effect on the regulation of GnRH neuron activity and has an important role in the onset of puberty and fertility.Objective:...

hrp0097rfc6.6 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Evaluation of Serum MKRN3 and DLK1 Concentrations for Predicting Variant Detection in MKRN3 and DLK1Genes in Patients with Central Precocious Puberty

Karakilic Ozturan Esin , Karaman Volkan , Gedikbaşı Asuman , Poyrazoglu Sukran , Oya Uyguner Zehra , Darendeliler Feyza , Bas Firdevs

Introduction: Loss-of-function mutations in genomically imprinted MKRN3 and DLK1 genes cause familial central precocious puberty (CPP) and may result in low serum concentrations of these proteins. This study aimed to evaluate the predictive value of serum MKRN3 and DLK1 concentrations for detecting variants in related genes.Material-Method: This retrospective study included 26 girls with CPP, of which 11 were receiving G...

hrp0095p1-345 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A cause of familial central precocious puberty: A Novel variant in the DLK1 gene and low serum DLK1 levels

Karakilic Ozturan Esin , Karaman Volkan , Yusuf Gelmez Metin , Yıldız Melek , Poyrazoğlu Sukran , Baş Firdevs , Oya Uyguner Zehra , Darendeliler Feyza

Background: Genetic factors play an important key role in regulating the timing of puberty. The premature activation of pulsatile release of gonadotropin-releasing hormone(GnRH) before 8 and 9 years of age in girls and boys causes central precocious puberty(CPP). Pathogenic variants in DLK1 are associated with isolated familial CPP. Here, we report three siblings with a diagnosis of CPP with novel variant in DLK1.Case Report:</st...

hrp0089p2-p050 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Osteoporosis-pseudoglioma Syndrome (OPPG): Improvement of Osteoporosis on Biphosphonate Therapy

Karakilic Ozturan Esin , Altunoglu Umut , Derya Kardelen Asli , Yavas Abali Zehra , Avci Sahin , Kayserili Karabey Hulya , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza

Background: Osteoporosis-pseudoglioma syndrome (OPPG), rare autosomal recessive entity, is characterized by juvenile osteoporosis, bone deformities, neuromotor retardation, and congenital blindness. This syndrome is due to the loss-of-function mutation in LRP5 (Low-density lipoprotein receptor-related protein 5). Here report four cases from three families, with confirmed molecular diagnosis who showed improvement of osteoporosis improved with biphosphonate therapy.<p class...

hrp0094p2-277 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Response to growth hormone therapy with high IGF-1-levels and severe insulin resistance in two-cases with SOFT syndrome: A novel homozygous mutation in POC1A

Karakilic-Ozturan Esin , Altuoglu Umut , Ozturk Ayse Pinar , Toksoy Guven , Tutku Turgut Gozde , Poyrazoglu Sukran , Bas Firdevs , Uyguner Oya , Darendeliler Feyza ,

Introduction: SOFT-syndrome (#MIM 614783) is a rare condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis caused by POC1A gene mutations. Moreover, severe insulin resistance (IR) and metabolic disorders may also accompany. Hereby, we report two-patients with SOFT-syndrome, who had severe short stature and IR, with a novel POC1A mutation.Case Report: Patient 1 (P1), a 16-month ol...

hrp0094p2-278 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Effects of growth hormone therapy on serum concentrations of IGF-1 in patients with Turner syndrome: High IGF-1 concentrations despite optimal dose?

Karakilic Ozturan Esin , Karagoz Nurinisa , Ceylaner Serdar , Pinar Ozturk Ayse , Derya Kardelen Al Aslı , Yavas Abali Zehra , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza ,

Introduction: Growth hormone (GH) treatment is used to accelerate growth in patients with Turner syndrome (TS). During treatment, evaluation of IGF-1 is strongly recommended for efficacy and safety. Some patients, despite optimum GH doses, have persistent high IGF-1 levels. In this study, we aimed to evaluate the relationship between IGF-1 levels, IGF1R and growth responses of TS patients on GH treatment.Method: 54 patie...

hrp0097p2-50 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A Rare Diagnosis in a Virilized Adolescent with a 46,XX Karyotype: Gonadoblastoma with Dysgerminoma

Kandemir Tugce , Karakilic Ozturan Esin , Dural Ozlem , Aslanger Ayca , Inan Balci Elif , Bayram Aysel , Onder Semen , Yildiz Melek , Poyrazoglu Sukran , Darendeliler Feyza , Bas Firdevs

Key words: Dysgerminoma, gonadoblastoma, virilizationIntroduction: Gonadoblastoma is a rare ovarian tumor composed of sex cord cells and primitive germ cells. Although it is frequently seen in patients with 46,XY gonadal dysgenesis, it is also rarely seen in patients with a 46,XX karyotype. Here, we report a girl with a 46,XX karyotype presenting due to an uncommon cause of virilization, which was caused by bilateral gon...