ESPE Abstracts

Objective: This study aims to compare the clinical and electrophysiological characteristics of two cases of type I sialidosis in Chinese children with previously reported cases, in order to elaborate the clinical and genetic features of type I sialidosis.Methods: Clinical investigations and genetic analyses were conducted on an 11-year-old girl primarily presenting with short stature, admitted in June 2020, and a 10 year...

Background and aims: Juvenile-onset systemic lupus erythematosus (JSLE) is a chronic autoimmune disease affecting individuals under 18, causing multi-system impairment. Patients with JSLE exhibit more severe disease when compared to patients with adult-onset SLE. This study aimed to evaluate the prevalence of endocrine and metabolic comorbidities in patients with JSLE, and analyze the factors associated with each comorbidity.Meth...

Introduction: Anorexia nervosa (AN) is a psychiatric disorder affecting mainly adolescents and young women, characterized by a restriction of energy intake leading to malnutrition, serious medical complications and high mortality. Until now the etiology of AN remains unknown and seems to be multifactorial. Patients with AN develop endocrine disorders related to disturbances of energy metabolism. Nesfatin-1 and glucagon-like peptide-1 (GLP-1) are involved in th...

Introduction: Paragangliomas are rare neuroendocrine neoplasms, that derive from the chromaffin cells of the neural crest. They originate from the extra-adrenal paraganglia and are divided into sympathetic and parasympathetic. They are classified into three different molecular clusters, depending on the underlying gene mutations, in any of at least 20 identified genes: cluster I Pseudo-hypoxia, cluster II Kinase signaling, cluster III Wnt signaling. Half of th...

Case 1: Twelve-year-old girl, presented with symptomatic hypoglycemia at the age of four. At six, she has type 1 diabetes mellitus (T1DM) started on insulin pump with excellent glycemic control. Genetic testing sent suspected MODY, revealed heterozygous variant in WFS1 gene, representing autosomal dominance inheritance. She screened for WFS associated disorder; negative.Case 2: Eighteen-year-old male with T1DM on insulin...

Background: Primary brain tumors are the most prevalent solid tumors among children. Both the tumor itself and therapeutic interventions can lead to endocrine complications and metabolic consequences in survivors. However, current information on these complications in childhood brain tumor survivors (CBTS) in Thailand is limited.Objectives: This study aims to evaluate the prevalence of endocrine and metabolic complicatio...

Objective: This case report emphasizes the significance of early clinical examination in a pediatric endocrinology clinic for the diagnosis of Williams-Beuren Syndrome (WBS). WBS is a rare genetic disorder typically caused by a deletion in the chromosomal region 7q11.23. This deletion results in the loss of 25-27 genes, including the elastin gene. It is characterized by growth delay, mild intellectual disability, behavioral issues, cardiac diseases (mainly sup...

McCune-Albright syndrome (MAS) is a rare genetic disorder caused by somatic activating mutations in the GNAS gene. Depending on the embryonic stages at which the mutation occurs, the phenotype of MAS may vary widely. Typical features include polyostotic fibrous dysplasia, café-au-lait skin lesions and multiple endocrinopathies, most frequently a peripheral precocious puberty. More rarely, patients have a liver involvement. We report the case of a 2 years-old boy with a ...

Introduction: Inactivating PTH/PTHrP signaling disorders (iPPSD) including pseudohypoparathyroidism 1A (PHP1A) represent a heterogenous group of endocrine conditions. Associated phenotypes are complex and may consist of resistance to hormones and neurotransmitters as well as short stature, osteoma cutis and skeletal findings. Cases with unusual and poorly understood presentations attributed to PHP1A have been reported. PHP1A manifests at variable ages and the ...

Background: The clinical manifestations of McCune-Albright syndrome (MAS) are diverse, typically including fibrous dysplasia (FD), café au lait spots, and endocrine hyperfunction, most commonly gonadotropin-independent precocious puberty (GIPP). Management of endocrinopathies in MAS varies by the affected organs. Treatment options for GIPP include clinical observation, aromatase inhibitors (AIs), ketoconazole, medroxyprogesterone acetate, selective estr...