ESPE Abstracts

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

Introduction: Prohormone convertases are a family of proteins that mediate the processing and activation of peptide hormones and neuropeptide precursors. Homozygous mutations of the PCSK1 gene result in prohormone convertase 1 deficiency that is characterized by diarrhea, hypoglycemia, multiple pituitary hormone deficiency beginning from neonatal period and obesity beginning after infancy.Case: A 35-day-old boy was referred to our hospit...

Background: Congenital Hyperinsulinism International (CHI) is an international non-profit organization focused on improving the lives of patients and families living with hyperinsulinism (HI). Despite many advances in the care of patients with HI, long term neurologic outcomes have not significantly improved, highlighting the need for CHI’s goals for robust and rapidly translatable research. We describe the development of a collaborative research network...

Purpose: The aim of the present study was to determine the efficiency of three different predictive models [Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and Tanner-Whitehouse 2 (TW2)] by comparing their predictions with near-adult height (NAH) data of girls who received gonadotropin-releasing hormone agonist (GnRHa) therapy.Methods: Clinical findings were retrospectively analyzed. Bone age (BA) was determined by thre...

Introduction: An increase in the incidence of congenital hypothyroidism (CH) with eutopic gland has been reported worldwide due to neonatal screening programs. Several studies have recently reported factors useful for predicting permanent CH (P-CH).Objectives: To determine predictive factors that could distinguish between permanent and transient CH (T-CH) in patients with eutopic thyroid gland and normal neonatal screeni...

Introduction: Carney Complex is a rare genetic disorder inherited in an autosomal dominant manner or may occur sporadically due to de novo mutations. It is characterized by the presence of cardiac myxomas, psammomatous melanotic schwannomas, skin pigmentation (blue nevi, lentigines) and multiple endocrine and non- endocrine tumors. It is caused by inactivating mutations or large deletions of the PRKAR1A gene. Management of the syndrome involves ongoing surveil...

Background and Aims: HNF4A-MODY clinical expression is broad, ranging from hypoglycemic hyperinsulinism in the neonatal period and early childhood to hyperglycemia and diabetes, as insulin secretion progressively decreases in adult patients. The main objective was to clinically and molecularly characterize patients with glycemic alterations, negative autoimmunity and confirmed molecular diagnosis of HNF4A-MODY.Materials and Metho...

Background: Osteonecrosis (ON) is bone death caused by inadequate blood supply resulting in demineralization and trabecular thinning and, subsequently, mechanical failure. Although the pathophysiology of ON is not fully understood, the use of high-dose glucocorticoid (GC) is one of the triggers. Furthermore, its optimal management remains uncertain. The use of bisphosphonates (BP) for the treatment of ON has been reported, however, data on outcomes are limited...

Introduction: The aim of this study was to investigate the molecular genetic etiology and to determine the relationship between genotype and phenotype with targeted next-generation sequence (NGS)analysis.Method: Patients with a clinical diagnosis of OI were included in the study. Initially, mutations in COL1A1 and COL1A2 genes which are known to be most responsible for OI were investigated. In the second step, a targeted...

Introduction: It is known that microduplications including the SOX3 gene and intragenic duplications leading to loss of function in the gene cause panhypopituitarism, which can be accompanied by intellectual failure. Here, we report the first known case of panhypopituitarism, a deletion of the X chromosome, including the SOX3 gene in the q27.1q27.3 region.Case: A 15-years and two months old male patient was referred to o...