ESPE Abstracts

Introduction: Parathormone-related peptide (PTHrP) regulates tissue calcium concentration by acting in paracrine or autocrine ways. It is mostly responsible for paraneoplastic hypercalcemia seen in adults. Paraneoplastic hypercalcemia in children is rarely reported in cancers such as ALL, medulloblastoma and hepatoblastoma (0.4–0.7%). In experimental studies, PTHrP is shown to be synthesized apart from neoplastic tissue (glomerulus and tubule cells).<p class="abstext"...

Objective: Secondary osteoporosis has a high rate of accompanying chronic diseases. We aimed to review the clinical and laboratory features, underlying causes, Dual Energy X-ray Absorptiometry (DEXA) results before and after treatment of patients diagnosed with secondary osteoporosis and to determine the relationship between this condition and fracture rates.Methods: This study was designed as a single-center, descriptiv...

Aim: Gonadotropin-releasing hormone analogues (GnRHa) are widely used in the treatment of idiopathic central precocious puberty (ICPP) cases due to premature maturation of the hypothalamus-pituitary-gonad axis. The effect of GnRHa therapy on body weight and fat distribution is controversial in the literature. We aimed to examine the anthropometric measurements and body composition analysis of the girls with ICPP and to investigate the effect of related factors...

Introduction and Purpose: Patients with type 1 diabetes mellitus must be extremely concerned with what they eat and their insulin dose as part of their treatment. Therefore, the risk of eating disorders increases in this patient group. This study, it was aimed to determine the disordered eating behaviors of patients with Type 1 DM and to evaluate the results of the general demographic characteristics, diabetes care behaviors, and quality of life scale that whi...

Introduction: A derivative chromosome (der) is a structurally rearranged chromosome generated either by a chromosome rearrangement involving two or more chromosomes or by multiple chromosome aberrations within a single chromosome. Balanced segmental anomalies such as inversion or translocation can lead to derivative chromosomes with partial duplication and deletion during meiosis. Here we present two patients with hypergonadotropic hypogonadism and various acc...

Introduction: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare disease with dominant inheritance characterized by benign (hamartoma) and malignant tumors (breast, endometrium, thyroid). Mutations in the tumor suppressor gene phosphatase and tensin homologue (PTEN) gene are responsible for the etiology.Objective: In this case report, we present an 11-year-old male who was being monitored due to follicular thyroid cancer, an...

Introduction: An activating mutations in the ABCC8 gene cause both transient and permanent neonatal diabetes mellitus (DM) or MODY 12. In relation to the variant in the ABCC8 gene, patients may also present with either neonatal hyperinsulinism and/or DM later in life. Besides, the same variant can cause different phenotypic features among family members. Response to the sulfonylurea treatment may vary between patients.<...

Introduction: Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause MODY 2. Conversely, homozygous loss-of-function mutations in the same gene give rise to permanent neonatal diabetes mellitus (DM). Previously, two patients diagnosed with DM in adolescence and had homozygous GCK mutations were reported. Variants in these patients have been shown to exhibit inactivated kinetics that are indistinguishable from neonatal ons...

Introduction: Autoimmune polyglandular syndrome type 1 (OPS1) is characterized by chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenalitis. The mutations in the localized autoimmune regulator gene (AIRE) at 21q22.3 present the etiological cause.Objective: In this case report, two siblings case who were diagnosed with OPS1 with different clinical findings except classic triad were presente...

Introduction: Gain-of-function mutations in KISS1 and KISS1R genes and loss-of-function mutations in the gene encoding the makorin RING-finger protein 3 (MKRN3) expressed only in the paternal allele are the most common genetic reasons of familial central precocious puberty (CPP).Aim: We report a case of familial CPP and a pathogen variant in the MKRN3 gene.<stron...