ESPE Abstracts

Introduction: Congenital multiple pituitary hormone deficiency (CMPHD) is a clinical condition that manifests in the early years of life. In most cases, pituitary stalk interruption syndrome (PSIS) can be detected by MR imaging. The current study presents a case with a novel candidate pathogenic gene Semaphorin 3A (SEMA3A) in CMPHD by whole-exome sequencing (WES).Materials and Methods: Genomic DNA was extracted from the ...

Background: Type 1 diabetes (T1D) is characterized by chronic hyperglycemia and microvascular complications like retinopathy, nephropathy, and neuropathy in long term. Nailfold video capillaroscopy (NVC) is a non-invasive method used to examine the microcirculation in the skin. In this study, we aimed to evaluate the microvascular structure in T1D with NVC, observe capillaroscopic alterations, and reveal the relationship of capillaroscopic abnormalities with g...

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...

The use of recombinant adeno-associated viruses (rAAV) as safe vectors have allowed hundreds of gene therapy attempts to treat monogenic diseases not including bone genetic diseases (Gao G, Nat Rev Drug Dis 2019). To our knowledge, there has been few attempts to apply gene therapy to monogenic bone diseases, largely because most skeletal malformations are being developed during fetal life. Patients affected with acrodysostosis are known to aggravate their skeletal malformation...

Introduction: Ellis Van Creveld syndrome (EVC) is a rare condition which is characterized with disproportionate short stature, postaxial polydactyly, and dysplastic nails and teeth. It is a rare autosomal recessive disorder due to mutations of EVC 1 and 2 genes located on chromosome 4p16. EVC syndrome is a chondroectodermal dysplasia. Congenital heart defects; especially atrial septal defect and single atrium occurs in 60% of affected individuals. Here we report a 5 year-old f...

Background: Papillary thyroid cancer (PTC) is the most common endocrine malignancy in children. PTC shows more aggressive progress in children than in adults in respect to local and distant metastases. Here we presented a PTC case with primary pulmonary symptoms and pulmonary metastasis.Case: A 15.5-year-old male patient presented to the clinics with cyanosis and respiratory difficulty for the last 2 years. He had dyspnea, central cyanosis, clubbing, and...

Background: The GnRH analoques have been used to treat many diverse reproductive system disorders, including precocious puberty.Objective and hypotheses: The present study aims to investigate the effects of GnRH analogue (GnRHa) treatment on internal genitales of girls with central precocious puberty (CPP).Method: The study included 40 girls who were diagnosed as CPP and treated with GnRH analogue (leuprolide acetate, Lucrin depot<...

Background: Screen (TV, tablet, smartphones, internet, video games, PC etc.) addiction is a growing problem in child health. The effect on insulin-glucose metabolism is not well known yet.Objective and hypotheses: To investigate the insulin resistance in screen addicted children.Method: We studied 108 children and adolescents aged 13.72±1.95 years (range 11–17 years). Participants were divided into three groups according ...

Aim: In this study, we investigated whether there was a relationship between prolactin hormone (PRL), whose excess levels lead to infertility, and expression of Kisspeptin (Kiss1), Neurokinin (Tac2) and their respective Receptors.Material and Methods: In our study, 12-16 weeks old 40 female Wistar Albino rats were classified into three groups; control group (n=10), physiological saline (SF) (n=1...

Objective: Initiation of continuous subcutaneous insulin therapy (CSII) requires an appropriate basal rate profile. Although different approaches exist; there is a lack of evidence-based recommendations, especially in young children. Our aim was to show how the % of basal rates change at the end of first year of therapy when basal rates are equally distributed at the start of therapy.Materials and Methods: In this survey, 129 CSII patients were analyzed....