ESPE Abstracts

Background: The variable presence of adrenal insufficiency (AI) due to hypocortisolemia (HC) in patients with thalassemia is well established; however, the prevalence of adrenocortical hypofunction (ACH) in the zona glomerulosa and zona reticularis of the adrenal cortex is unknown.Objective and hypotheses: To establish the prevalence of ACH, we examined the cortisol response to 1 μg- and 250 μg- ACTH tests, plasma aldosterone (A)/plasma renin a...

Background: Osteogenesis imperfecta type XVII (OI17) (MIM#182120) have been described recently due to mutation in secreted protein, acidic, cysteine-rich (SPARC) gene located on 5q33.1.Objective and hypotheses: Here we report a novel mutation in SPARC causing OI17.Case: Two siblings presented to our clinic at the age of 10.3 and 0.5 years old. Parents were consanguineous. The older one was born with birth weight &...

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of brittle bone disease mostly caused by quantative or qualitative defects in type I collagen. In most populations, more than 90% of the patients with OI have dominant mutations in COL1A1 or COL1A2 genes (AD-OI). Less than 10% of the cases have recessive inheritance (AR-OI). Currently 12 genes have been identified as a cause of AR-OI.Objective and hypotheses: We assumed h...

Background: MODY is an autosomal dominant inherited type of diabetes with significant genetic heterogeneity. To date, there are mutations in more than ten different genes that result in the MODY phenotype and new mutations causing MODY are still being found.Objective and hypotheses: In this study, we aimed to perform a molecular analysis of pediatric MODY patients by next-generation sequencing which enables the simultaneous analysis of multiple genes in ...

Background: Primary hypoparathyroidism (HP) is a rare disease characterized by hypocalcemia, hyperphosphatemia and low/inappropriately normal parathyroid hormone (PTH) levels. We aim to characterize the clinical findings and molecular aetiology of childhood HP in our cohort.Method: DiGeorge-VCFS FISH analysis was performed on all patients (n=28) as the initial step after the diagnosis. In whom, FISH analysis was...

Introduction: Medulloblastoma is the most common central nervous system tumour in children representing, approximately 20% of childhood brain tumours. Cure can be achieved with surgery, chemotherapy and radiotherapy. However, disease survivors encounter long term endocrine complications including short stature due to growth hormone (GH) deficiency and spinal radiotherapy.Patients and Methods: We aimed to investigate long...

Background: RASopathies are a group of diseases with common clinical features that occur as a result of pathogenic variants in genes encoding components of the RAS/MAPK pathway. The aim of this study was to evaluate the clinical and molecular features of RASopathy cases in our pediatric endocrinology unit.Subjects and Methods: The clinical and molecular data of 42 patients (18 girls) from 39 families were evaluated, retr...

Introduction: 17α-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal insufficiency characterized with decreased cortisol and sex steroid biosynthesis, overproduction of ACTH, and increased mineralocorticoids. The overproduction of corticosterone hinders the symptoms of glucocorticoid deficiency and causes sodium retention, hypertension, and hypokalemia in severe cases. Affected 46,XX and 46,XY individuals are phenotypically female in the...

Introduction and Aim: In this study, we aimed to investigate the admission characteristics, the ratio of permanent/transient hypothyroidism, and the predictors of permanent or transient hypothyroidism at initial evaluation in newborns admitted in 2013 and 2014 from neonatal TSH screening program.Method and Results: During two years period, 985 babies were admitted to our clinic with screening results for evaluation, and ...

Context: Clinical experience is limited regarding the efficacy of different depot Leuprolide acetate (dLA) treatment protocols in girls with central precocious puberty (CPP).Aim: To compare the 3.75 mg/4 weeks versus 11.25 mg/12 weeks ıntramuscular injection of dLA in suppressing gonadotropins and pubertal development.Subjects and Methods: In a prospective study, 92 girls wit...