ESPE Abstracts

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy(APECED) is a rare autoimmune disease caused by a loss-of-function mutation in the autoimmune regulator gene(AIRE). AIRE gene mutation disrupts the negative selection of self-reactive T cells in the thymus, causing autoimmune reactions in endocrine and non-endocrine tissues. Impairment in T cell function is also associated with susceptibility to specific infections along with autoimmun...

Introduction: Pituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary gland manifesting with varying degree of anterior pituitary insufficiency. It is presented with isolated growth hormone deficiency or multiple anterior pituitary hormone deficiencies. It is characterized by the triad of thin or interrupted pituitary stalk, hypoplasia or aplasia of adenohypophysis and ectopic or absent neurohypophysis. It is manifested with hyp...

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...

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: Inherited mitochondrial diseases are a group of disorders in which redox homeostasis is disrupted. The adrenal gland is particularly susceptible to oxidative stress associated with mitochondrial dysfunction. Furthermore, all adrenal steroid hormones are synthesized within the mitochondria. Therefore, novel genetic mitochondrial diseases emerge as rare causes of primary adrenal insufficiency (PAI).Objective: Char...

Introduction: There is a complex and multifaceted relationship between antiepileptic drugs (AEDs) and the neuroendocrine system. Thyroid hormone (TH) sensitivity reflects thyroid homeostasis more comprehensively than serum hormone levels. It is clear whether TH sensitivity is associated with the use of AEDs. In this study, the evaluation of thyroid hormone sensitivity is aimed in euthyroid cases treated with antiepileptic drug therapy. In this study, the evalu...

Introduction: Syndromic obesities are characterized by malformations, dysmorphic features, and/or neurodevelopmental disorders. This paper reports the clinical characterization of a duplication showing familial transmission in the Xq27.3q28 region containing the FMR1 gene, presenting symptoms such as obesity, hypogonadism, gynecomastia, short stature, and intellectual disability.Case Presentation: A 17-year-old male pati...

Introduction: 18q deletion is one of the rare causes of short stature, characterized by intellectual disability, short stature, hypotonia, hearing loss, and foot deformities. Patients with this condition are also found to have an increased susceptibility to autoimmune diseases, which can lead to associated endocrinopathies. Here, we present a case diagnosed with 18q deletion and followed in our clinic due to short stature.Case:</...

Objective: Cystic fibrosis (CF) associated diabetes (CFRD) is a common comorbid condition in individuals with CF and its prevalence increases with age. There are reports in children aged 10 years and younger. The aimof this study was to estimate insulin resistance by HOMA-IR (Homeostatic Model Assessment) with oral glucose tolerance test (OGTT) data and Matsuda index to test glucose metabolism in relation to Matsuda insulin secretion in children with CF.<p...

Introduction: Homozygous leptin (LEP) and leptin receptor (LEPR) mutations lead to childhood-onset obesity due to deficient leptin signaling. The specific aims of this work are to explore genotype/phenotype correlations in a national multicenter cohort of 18 subjects with leptin (LEP) and leptin receptor (LEPR) deficiency, report on the long-term clinical follow-up of these rare cases, and systematically review all patients with pathogenic <e...