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...

hrp0095rfc9.2 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Investigation of Genes Associated with Multiple Pituitary Hormone Deficiencies via Next Generation Sequencing Technology

Pınar Öztürk Ayşe , Toksoy Güven , Baş Firdevs , Yavaş Abalı Zehra , Bagirova Gülendam , Karaman Volkan , Yıldız Melek , Aslanger Ayça , Yeşil Gözde , Poyrazoğlu Şükran , Oya Uyguner Zehra , Darendeliler Feyza

Background: Deficiency of one or more pituitary hormones, often with growth hormone (GH) deficiency, is defined as multiple pituitary hormone deficiencies (MPHD) or congenital hypopituitarism (CH). CH cases are mostly sporadic and have a prevalence of 1/3000-4000 live births. There are many known and yet unknown molecular pathways explaining the complex structure and functions of the pituitary gland. Many different gross and small sequence variants in the gene...

hrp0095p1-517 | Growth and Syndromes | ESPE2022

Evaluation of Genetic Etiology in Children Born Small for Gestational Age with Persistent Short Stature: Preliminary Results

Pınar Öztürk Ayşe , Aslanger Ayça , Karakılıç Özturan Esin , Nur Konur Esma , Güleç Çağrı , Karaman Volkan , Yıldız Melek , Yeşil Gözde , Toksoy Güven , Poyrazoğlu Şükran , Baş Firdevs , Karaman Birsen , Oya Uyguner Zehra , Başaran Seher , Darendeliler Feyza

Background: Approximately 10-15% of small for gestational age (SGA) newborns are at risk of having subnormal growth and persistent short stature. It is postulated that a large amount of persistent short stature results from genetic abnormalities, which are commonly characterized by dysmorphic features and developmental disorders.Aim: To uncover the genetic etiology of syndromic short stature children born SGA.<p clas...