ESPE Abstracts

Background: Type 1 DM is an autoimmune disease, characterized by destruction of the insulin-producing beta-cells in the islets of Langerhans. The absolute insulin deficiency leads to metabolic imbalance with hyperglycaemia, acidosis and proneness to ketosis. This acute disturbance can change thyroid hormone metabolism.Objective and hypotheses: To examine the influence of metabolic acidosis/ketoacidosis in type 1 DM on thyroid hormone levels.<p class=...

Introduction: Congenital hyperinsulinism (CHI) is a rare but severe condition causing persistent hypoglycaemia. Approximately 30-40% of patients require surgical treatment. Extent of surgery depends on the histological form of the disease: subtotal pancreatectomy is done in diffuse CHI, whereas pancreatic resection is recommended in focal CHI.18F-DOPA PET scan is a gold-standard imaging technique that helps in differential diagnosis of diffuse and f...

Background: The most common conditions requiring surgery or radiation therapy of the sella and suprasellar area in childhood are craniopharygiomas and pituitary adenomas. Therapeutic procedures involving pituitary gland often lead to multiple hormonal deficiencies, and experienced multidisciplinary team following guidelines and applying systematic approach could improve outcomes.Aim: To evaluate hormonal replacement ther...

Background: Congenital nephrogenic diabetes insipidus (arginine vasopressin resistance) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. About 90% cases nephrogenic diabetes insipidus is an X-linked recessive disorder caused by variants in the AVP V2 receptor gene (AVPR2). In the remaining cases (10%) the disease is autosomal recessive or dominant and, for these patients, variants in ...

Background: 5-α-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, a potent androgen responsible for male sexual development during the fetal period. From 2017 to 2019, a homozygous hg38_chr2:31529414 C>T variant in SRD5A2 gene have been identified in 3 unrelated patients with DSD 46,XY of Buryat origin. The variant has been previously reported in one patient from China (Song et al, 2019) and l...

Objectives: Diabetes mellitus (DM) as part of autoimmune dysregulation syndromes holds a unique place among DM monogenic forms. Early diagnosis of the disease is critical for pathogenetic therapy to be prescribed. We describe a clinical case of insulin-dependent DM in combination with severe autoimmune enteropathy in a young patient who had a novel compound heterozygous mutation in the LRBA gene.Methods: The patient unde...

Background: Growth hormone deficiency (GHD) is a disorder affecting children's linear growth and leading to short stature without initiation of treatment with growth hormone (GH). Administration of GH has been shown to be safe and effective to increase children's final height in GHD. It is important to start the treatment as early as the GHD is diagnosed. The objective of the current study is to evaluate the growth velocity and height standard deviat...

Background: Congenital hyperinsulinism (CHI) is a rare group of genetic disorders resulting in persistent hypoglycemia which can lead to a considerable risk of neurological damage and developmental delay.Aim: To assess the neurodevelopmental outcome in children with CHI.Methods: Thirty-three patients with &Scy;HI aged from 7 to 58 months were included. All subjects underwent clinic...

Aim: Evaluation of the results from the campaign GrowInform (2017-2019), a project with the main aim to raise awareness of growth disorders, and secondary aims to facilitate screening for growth deviations in children from areas with no easy access to pediatric endocrinologists, thus achieving earlier diagnosis and treatment.Methods: For 2 years (April 2017 to March 2018), GrowInform acted in 13 cities and towns from Eas...

Background: SHORT syndrome is an autosomal dominant genetic multisystem disorder determined by PIK3R1 gene mutations, which normally plays a role in cell signalling. SHORT is an acronym for short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly and teething delay. It is a rare condition; its prevalence is unknown with only few affected individuals and families reported worldwide.Case report: We report a case of 4 yea...