ESPE Abstracts

Background: Heterozygous pathogenic variants in the ACAN gene underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or osteochondritis dissecans (OD)/early-onset osteoarthritis (OA).Objective: To describe the phenotypic spectrum and assess the response and safety of growth hormone (GH) treatment in children with a heterozygous pathogenic ACAN variant.</...

Background: In pediatric patients multiple pituitary hormone deficiency (MPHD) can be caused by mutations in pituitary-specific transcription factors. Among those, mutations in PROP1 gene account for ~50% of genetically determined cases of CPHD. Regarding morphology, the anterior pituitary can be normal, hypo-/aplastic or enlarged.Results: We present two unrelated patients referred for evaluation of growth retardation. Both had profound growth retardatio...

Background: Gonadal hyperfunction is the most frequent endocrine dysfunction in females with McCune–Albright syndrome (MAS), and precocious puberty (PP) is usually the first manifestation of MAS in children.Objective and hypotheses: The optimal pharmacologic treatment of PP in girls with MAS has not been yet identified and new therapeutic options like anti-estrogen should be taken under consideration especially in patients with extreme high estradio...

Background: One of the crucial aspects of the management of disorders of sex development is the assessment of the risk of malignant transformation of a dysgenetic gonad.Objective and hypotheses: The PCR analysis of germ-cell risk factors as the presence of the TSPY gene may be helpful in decision making of an early gonadectomy.Results: We report a 46,Xdel(Y)p11.3 girl with gonadal dysgenesis, that was referred to the Depar...

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...

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: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...

Background: Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome, associated with tumors such as pleuropulmonary blastoma (PPB), ovarian Sertoli-Leydig cell tumors (SLCT), multinodular goiter (MNG), cystic nephroma (CN), embryonal rhabdomyosarcoma (ERMS) or primitive neuroectodermic tumor. DICER1 is involved in the generation of microRNAs (miRNAs), short, double-stranded, non-coding RNAs that modulate gene expression at ...

Introduction: The true incidence of SARS-CoV-2 infection in children and young people (CYP) is unclear and data are influenced by testing strategies. CYP have so far accounted for 17.5-22% of diagnosed infections. In adults, diabetes was identified as risk factor for severe symptoms and hospitalization with the COVID-19. Eighteen months into the pandemic, studies in CYP with type 1 diabetes (T1D) reported only an increased prevalence of diabetic ketoacidosis (...

Background/Objectives: Type 1 diabetes (T1D) is a chronic metabolic disease that requires daily and complex management for both patients and their caregivers, impairing the quality of life. Aim of this cross-sectional observational study was to determine whether metabolic control and health-related quality of life (HRQOL) of T1D subjects and their parents could be influenced by immigration status.Methods: We enrolled 125...