ESPE Abstracts

Introduction: X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX). It is characterized by altered phosphate homeostasis with persistent hypophosphatemia and hyperphosphaturia resulting in deficient skeletal mineralization, rickets, bone deformity, growth failure, dental problems, joint pain and impairment.Case Prese...

Background: Thyroid hormones (TH) play multiple effects on glucose metabolism. Some recent studies carried out in adult patients suggested an association between altered sensitivity to TH and type 2 diabetes, obesity, and metabolic syndrome. No studies are currently available on the presence of altered sensitivity to the action of TH in youths with prediabetes.Objective: To evaluate the relationship between sensitivity t...

Background: Turner syndrome (TS) affects about one in 2500 liveborn females. It results from the loss of all or part of X-chromosome and has a variable phenotype. The classical form is characterised by short stature, skeletal abnormalities, lymphedema, renal and cardiac anomalies, webbed neck, peculiar neurocognitive profile and gonadal dysgenesis. While loss of up to 2/3 of the X chromosome short arm is compatible with normal fertility, chromosome deletions involving Xq are o...

Background: GnRH-analogs (GnRHa) are the recommended treatment for Central Precocious Puberty (CPP). Despite a normal long-term outcome is generally reported, reproductive function and emotional sphere in adulthood are still poorly evaluated.Objective: To evaluate the general long-term outcome of young women with previous CPP treated with GnRHa.Patients and Methods: A cohort of 63 ...

Background: FGF21 is a hormonal factor with powerful anti-diabetic and anti-obesity properties in adults\. Studies in rodent models indicated that hepatic FGF21 expression and blood FGF21 levels are strongly induced after birth in response to fat provided by milk ingestion. Moreover, preliminary data indicate that FGF21 is present in maternal milk.Objective and hypotheses: Our objective is to determine, using human samples and pre-clinical experimental m...

Background: The endocrine role of white adipose tissue (WAT), as a site of release of the so-called adipokines, has been recognized for long. Brown adipose tissue (BAT) is the main site of adaptive thermogenesis in mammals, especially relevant in neonates and early infancy. The amount and activity of BAT are associated with a healthy metabolic profile and protection against obesity, type II diabetes and hyperlipidemia. This biological role of BAT is traditionally attributed to...

Background: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase. A major challenge in diagnosing HPP is interpreting variants in ALPL classified as variants of uncertain significance (VUS) according to ACMG/AMP criteria, creating uncertainty in patients and treating physicians resulting in d...

Introduction: Central precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. Mutations in the imprinted gene MKRN3 are the most common monogenic form of CPP. Recently, attention was directed to DLK1, another imprinted gene. Defects in this gene resulted to be a rare cause of CPP in girls and adult women with precocious menarche, obesity and metabolic derangement. We aimed to investigate a cohort of female and male p...

Cushing’s disease (CD) is defined as hypercortisolism secondary to an adrenocorticotropin (ACTH) secreting pituitary adenoma. It is rare in the pediatric age and early diagnosis and treatment are important to prevent long-term complications. In the diagnostic workup, bilateral inferior petrosal sinus sampling (BIPSS) of ACTH after corticotropin-releasing hormone (CRH) stimulation is the gold standard in the differential diagnosis of ACTH-dependent hypercortisolism. We re...

Introduction: Despite the high detection rate of GNAS molecular defects, about 30% of patients with a clinical suspect of PHP/AHO still lack a confirming molecular diagnosis. Mutations in genes encoding proteins crucial for cAMP-mediated signaling have been recently detected in a small subset of patients negative for GNAS defects, showing a phenotypic overlap between PHP and Acrodysostosis.Clinical case pres...