ESPE Abstracts

Aim: Resistance to thyroid hormone (RTH) is a disease characterized by decreased sensitivity to thyroid hormone in the peripheral tissues such as cell membrane, metabolism, or nuclear receptor. In THRB gene mutation induced RTH, the effect of T3 on TRβ mutant receptors in the liver and the pituitary decreased, on TRα receptors located in the brain and heart increased. Triac’s activity is similar to T3.Case: A 1-month-old girl patient was a...

Introduction: Hyperthyroidism is a disorder of the thyroid function in childhood that causes symptoms such as low school performance, headache, hyperactivity, palpitation, systolic hypertension, heat intolerance, diarrhea, weight loss inspite of tremendous appetite and tremor. Hyperthyroidism is very rare in childhood. Graves’ disease is responsible for 84% of pediatric cases and is the most common cause.Method: The demographic characteristics, refe...

Introduction: Premature ovarian failure (POF) is defined as ovarian failure developing before the age of 40. The etiology of genetic POF is quite heterogeneous and can be due to genetic, autoimmune, environmental, viral infections or iatrogenic causes.Objective: The aim of this study is to investigate the molecular genetic causes of non-syndromic POF cases with the gene panel based on next generation sequence analysis an...

Introduction-Objective: Nephropathy, retinopathy, neuropathy are long-term microvascular complications of diabetes. Glycated hemoglobin (HbA1c), used as a glycemic control indicator, have proven to be indicative in the development of microvascular complications. In this study, the contribution of HbA1c variability to complication development was evaluated.Method: Twenty one cases with type 1 diabetes mellitus (T1DM) who ...

Introduction: Idiopathic short stature(ISS) refers to children who are short because there is no identifiable defect in the growth hormone (GH)/insulin-like growth factor(IGF) axis and no other endocrine or genetic disorders. The genetic etiology of ISS in children was investigated in this study using targeted next-generation sequencing(NGS).Method: Eighty patients with short stature of unknown etiology were included in ...

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:</...

Introduction: 46,XX testis/ovotesticular (OT) disorders of sex development (DSD) are rare conditions where gonadal differentiation in 46,XX individuals leads towards testicular development. SRY-negative 46,XX OT-DSD is even rarer compared to other DSDs.Case Presentation: A male patient presented at the age of 3 due to micropenis. Physical examination revealed penile hypospadias and bifid scrotum; phallus length was 2.2 c...

Introduction: Congenital tufting enteropathy (CTE) is a rare autosomal recessive enteropathy that typically presents in early life and is often characterized by persistent diarrhea. Height standard deviation scores (SDS) and body mass indexes are generally low in patients with CTE. However, information about the effects of growth hormone (GH) therapy in these patients is lacking.Case Presentation: A 13-year-old girl with...