ESPE Abstracts

Background: Persistent Müllerian duct syndrome (PMDS) is a relatively rare autosomal recessive disorder of sex development (DSD), characterized by the presence of Müllerian duct derivatives in 46,XY phenotypic males. PMDS is due to mutations in the AMH gene or its type II receptor gene AMHR2. To date; more than 50 different mutations of the anti-Müllerian hormone (AMH) gene have been reported.Case report: Here, we report a novel mutation o...

Background: Polycystic ovary syndrome (PCOS) is a common reproductive endocrinopathy in women of childbearing age, affecting 5–10% women in this age group. Its suggestive cardinal features are hyperandrogenism, ovulatory dysfunction and/or polycystic ovary appearance. The diagnostic gold standard tool is pelvic ultrasound (PUS) which may be limited in overweight and obese adolescent girls.Objective and hypotheses: To evaluate the contribution of pel...

Introduction: Peroxisomal biogenesis disorders - Zellweger Syndrome Spectrum (PBD-ZWS) are rare disorders involving multiple systems including the central nervous system, adrenals, liver and skeleton but hyperinsulinism is not a recognized association. We present a child with PBD-ZWS due to a novel mutation in PEX1 who developed hyperinsulinaemic hypoglycaemia (HH).Case report: A 7 month old boy presented with recurrent hypoglyc...

Background: X-linked hypophosphatemia (XLH) is a rare, often debilitating genetic disorder caused by mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) that is characterized by excess fibroblast growth factor 23 (FGF23), hypophosphatemia, skeletal deformities, and growth impairment.1,2 Conventional therapy with the combination of phosphate and active vitamin D is associated with poor treatment adh...

Background: Numerous studies have evaluated the beneficial effects of omega-3 fatty acids on inflammatory, autoimmune and renal diseases. However, data about the effects of omega-3 fatty acids on diabetic kidney disease in type 1 diabetes mellitus (T1DM) are lacking.Objectives: This randomized-controlled trial assessed the effect of oral omega-3 supplementation on glycemic control, lipid profile, albuminuria level, kidne...

Key words: Childhood, Obesity, Periaortic fat thickness, Echocardiography, Cardiovascular risk.Aim: To assess the periaortic fat thickness (PAFT) by echocardiograpy in a cohort of children with simple obesity and to evaluate its relationship to clinical and metabolic cardiovascular risk factors.Methods: Fifty children and adolescents with simple obesity and 25 healthy sex and age m...

Background: GnRHa is the treatment for CPP, it arrests puberty progression, slows bone age (BA) maturation, and increases pubertal height. In the last decades, the use of GnRHa has demonstrated its favorable effects on linear growth, although the net height gain and predictors of long-term outcomes remains debated. Concerns raised on thepotential negative effects of treatment on weight and reproductive function.Methods: ...

Key words: Insulin resistance, triglycerides to high-density lipoprotein cholesterol-(HDL-C), HOMA-IR.Background: Childhood Obesity is a chronic metabolic disease. The fundamental disorder related to obesity is Insulin Resistance (IR). The gold standard method to measure IR is by use the hyper insulinemic euglycemic clamp, rarely performed in children because of its invasiveness, complexity, time consumption and high cos...

Introduction: A recent review from 14 Mediterranean and Middle East countries (n=4477, mean age = 16.5 years) showed that the pooled prevalence of delayed puberty / hypogonadism in patients with BTM was 45.6%.Objectives: We reviewed the literature (Pubmed, Google scholar, Scopus, Research gate) (1995: 2022) on the consequences of hypogonadism and benefits of Sex Steroid therapy (HRT) in children and adolescents ...

Keywords: Benfotiamine, Bioavailability, Thiamine, Diabetic Peripheral Neuropathy Abbreviations: Adverse Event (AE), Advanced Glycation End products (AGE), Analysis of Variance (ANOVA), Alanine Transaminase (ALT), Body Mass Index (BMI), Case Report Form (CRF), Diabetic Neuropathic Symptom score (DNSS), Diacylglycerol (DAG), Dipeptidyl Peptidase 4 Inhibitor (DPP-4 I), Good Clinical Practice (GCP), Informed Consent Form (ICF), Intent to Treat (ITT), Institutiona...