ESPE Abstracts

Background: Childhood onset PTC has a more aggressive presentation but no overall increase in mortality compared to adults.Objective: To characterize a pediatric cohort with PTC at diagnosis using the American Thyroid Association (ATA) Initial Risk Stratification (IRS) and to evaluate the response to initial treatment until 3 years based on the modified ATA Dynamic Risk Stratification (DRS) for adults.<p class="abste...

Since the first description of pseudohypoparathyroidism (PHP), a remarkable clinical variability, which translates in several PHP subtypes, was observed. In 2016 a new classification of this group of diseases have been published by the European Network on PHP and related disorders, proposing “inactivating PTH/PTHrP signaling disorder” (iPPSD) as a new term that encompasses all the clinical entities, stressing the common mechanism responsible for all diseases. iPPSDs ...

Context: Osteocalcin is a bone formation marker that has recently sparked interest for its endocrine involvement in glucose homeostasis and obesity. Nevertheless, its natural pattern during infancy and early childhood remains unknown.Objectives: We established reference values for total serum osteocalcin during specific timepoints from birth until five years of age, and presented these in the context of covariates.<p...

Background: Short stature is defined as a height more than two standard deviations below the mean for age and sex. Pathologic causes of short stature include growth hormone deficiency, hypothyroidism, celiac disease, inflammatory bowel disease or other chronic diseases, hormonal abnormalities, and genetic disorders, such as Turner syndrome. Moreover, among other variants of short stature, scholarship also described familial short stature, constitutional delay ...

Background: ROHHAD syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation) – also defined as ROHHADNET when associated with neural tumors - is a rare condition with a high mortality rate. The aim of this study is to describe the phenotypes of a multicentric cohort of ROHHAD patients.Patients and Methods: We retrospectively analyzed clinical data from 22 patient...

Objective: To evaluate the pancreatic reserve and metabolic control in our patient diagnosed of type 1 diabetes over the last 20 years.Method: Retrospective cohort study of all patients <15 years, diagnosed in our community between 01/01/1995 and 31/12/2014. Variables: gender, age at diabetes debut, age at study, c-peptide after stimulation with glucagon at debut and 1 month after, HbA1c at debut, 1 month, 1 year, 2 years, 5 and 10 years of debut. Co...

Introduction: Septo-optic dysplasia (SOD) is an uncommon, highly heterogeneous entity of multifactorial etiology, consisting in the association of 2 or more of the following characteristics: ophthalmological abnormalities [most frequently optic nerve hypoplasia (ONH)], midline brain abnormalities [such as aplasia/hypoplasia of the septum pellucidum (SP) and/or corpus callosum (CC)] and variable degree of hypotalamo-pituitary insufficiency (HPI)<p class="ab...

Background: Low birth weight is associated with increased cardio-metabolic diseases in adulthood. Specific circulating miRNA seem to be predictive of cardio-metabolic risk.Objective: Our aim was to investigate the circulating levels of mir-122, mir-16, mir-126, and mir-486 in a cohort of SGA and AGA subjects, evaluated longitudinally in childhood and early adulthood.Method: Anthropometric and biochemical-metabolic evaluations were ...

Introduction: Virilization and hirsutism are clinical findings of androjen excess in females mostly due to polycystic ovary syndrome, although androgenic drugs, nonclassic congenital adrenal hyperplasia and androgen secreting adrenal/ovarian lesions are also implicated. 46, XX ovotesticular disorder of sex development (DSD) is the rarest form of DSD with an incidence of less than 1 in 20000.Case report: A 15-year-old ado...

The genomic analysis of 46,XX individuals with testes (known as testicular Disorders/Differences of Sex Development (TDSD) or ovotestes (ovotesticular DSD (OTDSD)) supports the hypothesis that ‘pro-testis/anti-ovary’ or ‘pro-ovary/anti-testis’ genetic pathways exist. These children typically present with virilized genitalia due to testosterone production from the presence of testicular tissue. Many individuals with TDSD and a minority with OTDSD have a tran...