ESPE Abstracts

Introduction: Complete androgen insensitivity syndrome (CAIS) is a sexual development disorder due to mutations that cause function loss in androgen receptors in 46, XY individuals. The risk of malignancy development until the age of 25 years in CAIS is 5–10%. We present a CAIS case where a Sertoli cell tumour was found, together with the USG and MR findings.Case: A 17-year-old female presented to our department complaining of amenorrhoea. She had a...

Objective: To evaluate thyroid hormones and antibodies, vitamins B12 and D levels, ferritin levels, adrenal and gonadal steroid levels in children diagnosed with ADHD and ASD.Material method: Patients between the ages of 2–18 years followed-up with the diagnosis of ADHD and ASD in the Van region were included in this study. The weights and heights of the patients were recorded and then the blood samples were obtained between 0800 and 0900 h. in the ...

Background: Approximately one-third of the central precocious puberty (CPP) cases have familial transitions. Although more than 30 genes related to puberty have been reported to date, only a few (KISS1, KISS1R, MKRN3, DLK1 and PROKR2) were associated with CPP. This study aims to reveal the associated sequence variants of MKRN3 and DLK1 genes in cases with familial CPP and their etiology.Method:...

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: Polyuria-polydipsia syndrome (PPS) is a common condition in children, and its etiology is not always easily elucidated. Although the water deprivation test remains the gold standard for diagnosis, its limitations necessitate the search for alternative diagnostic methods. Due to its stability, copeptin is a valuable current parameter that is considered more reliable than AVP measurement. This study aims to compare copeptin levels between patients wi...

Introduction: Diagnosing hypoglycemia-associated metabolic disorders is challenging and necessitates a methodical approach. Unlike idiopathic ketotic hypoglycemia (starvation hypoglycemia), fructose 1,6-bisphosphatase deficiency is an uncommon metabolic disorder characterized by a defect in gluconeogenesis. This disorder also causes lactic acidosis, hypertriglyceridemia, hyperuricemia, and ketonuria. This case report describes two siblings diagnosed with fruct...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder resulting from a genetic defect in one of the enzymes involved in the synthesis of cortisol from cholesterol in the adrenal cortex. Although steroid hormone levels are used in the diagnosis and monitoring of CAH, not all steroid hormone levels can be measured by ELISA. Steroid hormone levels are measured using immunoassay and liquid chromatography-mass spectrometry (L...

Background: Cardiovascular complications are the leading cause of mortality and morbidity in patients with type 1 diabetes (T1D), and early assessment is crucial. Our study aimed to determine the impact of diabetes on vascular health by monitoring 24-hour ambulatory blood pressure (ABPM) and measuring arterial stiffness (AS) in children with T1D.Methods: Seventy-four consecutive children with T1D and 68 age and sex-match...

Background: Deficiency of one or more pituitary hormones, often with growth hormone (GH) deficiency, is defined as multiple pituitary hormone deficiencies (MPHD) or congenital hypopituitarism (CH). CH cases are mostly sporadic and have a prevalence of 1/3000-4000 live births. There are many known and yet unknown molecular pathways explaining the complex structure and functions of the pituitary gland. Many different gross and small sequence variants in the gene...