ESPE Abstracts

Introduction: Brain-lung-thyroid syndrome (BATS) is a rare autosomal dominant inherited syndrome that develops due to mutations in the NKX2-1 gene, which is a thyroid transcription factor, and is characterized by respiratory distress in the neonatal period, congenital hypothyroidism, and choreatetosis. Approximately half of affected patients have the complete triad, with 30% affected by the neurological phenotype (motor developmental delay, gait difficulties, choreatetosis, hy...

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder. Diagnosis, monitoring of treatment, adjustment of drug doses are important for height, puberty and psychologic status of patients and their families.Materials & Methods: Patients with classical CAH due to 21-hydroxylase deficiency who were followed regularly in pediatric endocrinology clinic between 1994 and 2019 were included in this study. Inform...

Introduction: Steroid hormone biosynthesis is initiated by the cholesterol side-chain cleavage enzyme (P450scc), which converts cholesterol to pregnenolone, the precursor of all steroid hormones. This enzyme is encoded by the CYP11A1 gene and is responsible for glucocorticoid, mineralocorticoid and sex steroid synthesis in the adrenal glands, gonads and placenta. Early or late onset adrenal insufficiency, 46, XY sex development disorder, and hypergonadotropic ...

Background: Heterozygous inactivating mutations in the calcium sensing receptor (CaSR) gene cause mild hypercalcemia, normal to slightly elevated parathormone (PTH) levels and may vary from an asymptomatic clinical picture to a mild course. This clinical picture is also called familial hypercalcemic hypocalciuria. In this study, it is aimed to present two sibling cases due to CaSR mutation with interesting features.Case...

Background: Glucose 6 phosphate dehydrogenase (G6PD) is expressed in all tissues and is necessary for the oxidant stress capacity of cells. G6PD deficiency is the most common enzymopathy in humans; it is among the important causes of hemolytic anemia. It has been reported that severe hemolytic anemia due to G6PD deficiency may develop in newly diagnosed diabetes, especially during the correction of hyperglycemia. To date, 9 cases have been described in the lit...

Introduction: Noonan Syndrome (NS) is a heterogeneous group of diseases with a genetic etiology affecting the RAS/MAPK signaling pathway known as RASopathy. Genes known to cause NS are PTPN11, KRAS, SOS1, RAF1, BRAF, SHOC2 and RIT1. There are sufficient studies indicating that recombinant growth hormone (rhGH) therapy can be given without increasing risk of developing cancer in NS cases with PTPN11 mutations from different centers. In this study, it was aimed ...

Background: The timing of puberty in children is occurring at an increasingly early age. During the COVID19 pandemic period, children experienced changes such as epidemic stress, sedentary life, and weight gain.Aim: To make a retrospective evaluation of the incidence of newly diagnosed central precocious puberty (CPP) during the first months of COVID-19. And to compare these corresponding data with the previousy ear....

Keywords: Hashimoto’s thyroiditis, autoimmune thyroiditis, hypothyroidismObjective: In our study, it was aimed to determine the clinical course of the disease by evaluating the cases diagnosed with Hashimoto's thyroiditis (HT) periodically, clinically, laboratory, and radiologically.Material and Method: Patients diagnosed with HT without chronic systemic disease, drug us...

Introduction: Ovarian torsion (OT) occurs with partial or complete obstruction of blood flow as a result of rotation of the ovary around the infundibulopelvic ligament and/or utero-ovarian ligament. OT is very rare in the pediatric population. Although the most common form of presentation is abdominal pain, the unclear symptom profile in children can often result in missed diagnosis or late diagnosis. For the preservation of ovarian functions and future fertil...

Objective: Monosomy 18q and 10p duplications rare chromosomal disorders that are caused by deletion of a part of the long arm (q) of chromosome 18 and duplication of genetic material on the short arm (P) of chromosome 10 respectively. In both disorders the phenotype is highly variable and; includes short stature, developmental delay, hypotonia, and facial dysmorphic features. Also, genital abnormalities could occur in both disorders. Genital abnormalities (cry...