ESPE Abstracts

Introduction: Vitamin D (VitD) is a prohormone that is synthesized in the skin after sun exposure. Mandatory lockdown during the COVID-19 Pandemic may have altered the sun exposure time of children.Aim: to evaluate vitD levels in a sample of children and adolescents, and compare between pre-pandemic and pandemic periods.Methoths Children and adolescents, from a Portuguese tertiary ...

Background: Subtle phenotypic differences have previously been described among children with varied genetic subtypes of Prader-Willi syndrome (PWS) – 15q11-q13 paternal microdeletion, maternal uniparental disomy (mUPD), and rare imprinting center defects. The MKRN3 gene, located on 15q11.2, is a master regulator of pubertal initiation and is a candidate gene for abnormal pubertal development in PWS.Objective and hy...

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for identifying common single nucleotide polymorphisms (SNPs) to predict positive outcomes of LSM in pediatric obesity management, defined as decrease in BMI z-score (based on IOTF).Patients/Methods: Out of 240 children with obesity (BMI>97...

Background: Being born small for gestational age (SGA) is an associated condition to nonspecific 46,XY DSD (without molecular diagnosis and with no specific disorders of undermasculinization). However, the underlying mechanism of the relationship between the presence of genital abnormalities and intrauterine growth restriction is unknown. The GH-IGF system is crucial for sex differentiation in mice and in humans, members of this system were detected in embryon...

Introduction: Tuberous sclerosis complex (TSC) is an autosomal dominant condition caused by a loss-of-function mutation in tumor suppressor genes TSC1/TSC2 which are involved in the inhibition of mTOR signaling implicated in cell proliferation. Major clinical features includes cardiac rhabdomyomas, renal cysts, epilepsy associated to cerebral dysplasia evidenced by cortical tubers and skin manifestation as: angiofibromas, fibrous plaques and the Shagreen patch...

Objectives: To evaluate the potential diagnostic role and sensitivity of T2-weighted DRIVE sequence in pituitary stalk (PS) identification and measurements in patients with hypothalamic-pituitary disorders. The degree of agreement and reliability between standard pre- and post-contrast T1-weighted images and T2-DRIVE will be tested in a large group of patients with pituitary dysfunction.Design: We searched for pituitary MRI reports using ‘T2-DRIVE&#...

Background: Paediatric HPAT, though generally benign, incurs significant neuro-endocrine morbidity. Their management is unclear and the paediatric neuro-oncology or adult pituitary forum at which they are discussed lack pituitary or age-specific expertise respectively. The UK National HPAT Interest Group has pioneered a monthly, multi-site, interdisciplinary, video conferencing decision-making forum, to garner necessary experience and evidence of outcomes to assist worldwide r...

Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The aim of this study was to characterize the histology of 46,XX DSD prepubertal gonads. We studied 25 gonads of fourteen 46,XX DSD patients. The age of biopsy/gonadectomy was 1.17 (0.08–4.17) years (median and range). Molecular studies confirmed the absence of SRY by PCR and/or MLPA in blood samples of all patients and i...

Background: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...

Background: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...