ESPE Abstracts

Aggrecan is a structural glycoprotein of the extracellular matrix of cartilage present in the articular cartilage, growth plate and cartilage of the intervertebral disc. Biallelic pathogenic variants are the cause of aggrecan type spondyloepiphyseal dysplasia (OMIM#612813) while the presence of heterozygous pathogenic variants determine Kimberley type spondyloepiphyseal dysplasia (OMIM#608361) and short stature associated or not with acceleration of bone maturation and early o...

Primary adrenal insufficiency (PAI) is a rare but life-threatening condition. It is defined as insufficient production or lack of action of glucocorticoids. Congenital adrenal hyperplasia (CAH) is the most common childhood cause, although numerous monogenic causes unrelated to CAH have been identified. Description of the etiology, age at diagnosis, clinical and biochemical characteristics, treatment and genetics of patients diagnosed with PAI between 0-18 years of age reviewed...

Introduction: Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2-6% of all intracranial neoplasms. Most data are based on case reports and only a few series have been reported. Delayed puberty, short stature, galactorrhea and weight gain are common features at presentation in pediatric patients. Functional tumors constitute a vast majority (90%) of PPAs including corticotropinomas in the first decade followed by relative upsu...

Introduction: Congenital hypopituitarism is a heterogeneous disorder with isolated hormone deficiency(IPHD) or combined(CPHD). Main risk factors for CPHD include H-P abnormalities such agenesis corpus callosum(ACC), anterior pituitary hypoplasia(APH), ectopic posterior pituitary(EPP), pituitary stalk interruption(PSI), septo-optic dysplasia(SOD), and holoprosencephaly(HPE).Patients and Methods: Prospective and longitudin...

Introduction: Differential diagnosis of partial central diabetes insipidus (PCDI) and primary polydipsia (PP) is challenging. Copeptin, a stable biomarker derived from the vasopressin precursor peptide, increases in response to arginine infusion. This has been utilized to distinguish between central diabetes insipidus (CDI) and PP, with a cutoff of 3.8 pmol/L at 60' post-infusion in adults.Objective: Evaluate argini...

Introduction: Congenital hypopituitarism is a heterogeneous disorder that involve combined pituitary hormone deficiencies.Patients and Methods: Longitudinal review of pediatric cases with congenital hypopituitarism follow up in a third level hospital.Inclusion criteria: patients under 18 years at diagnosis with combined pituitary hormone deficiencies....

Introduction: Subclinical hypothyroidism (SH) is a biochemical condition characterized by serum levels of TSH above the reference range upper limit (4,5μUI/mL), with normal concentrations of thyroid hormones. In cases of non-autoimmune subclinical hypothyroidism (NASHT), genetic defects have been described and can determine disorders in the biosynthesis process of thyroid hormones, such as heterozygous mutations in the TSH receptor gene (TSHR) and ...