ESPE Abstracts

Background and Aim: Recombinant growth hormone (GH) is reimbursed for the treatment of short stature (<-2.5 Z-score) in children born small for gestational age (SGA) without postnatal growth, aged ≥ 4 years with a height Z-score >1 below mid-parental height (MPH). We wanted to determine the current GH prescribing practices by pediatric endocrinologists (PE) for SGA related short stature and document the percentages of treated children at risk for...

Background/Aims: Cryptorchidism or undescended testis is a prevalent congenital urogenital condition affecting male newborns with an incidence rate ranging from 1.0 to 4.6%. Mouse models have implicated INSL3 and its receptor RXFP2 (formerly known as GREAT or LGR8) in the development of the condition. RXFP2 acts as a G protein-coupled receptor that triggers the generation of cAMP by binding INSL3. But despite the established role in testicular descent, so far ...

Background: Craniopharyngioma is a benign, slow-growing epithelial tumor, in children it contributes to 5–10% of all brain tumors. Its incidence is 0.5-2 per 1,000,000 person-years. 30–50% of these tumors are recognized in childhood, most often in ages 5–14, no sex predilection is observed. It is located mainly in the sellar/parasellar region, in children adamantinomatous variant, with tendency to recur, is the most common type. Views on the usefulness of immuno...

Background: Rogers syndrome or thiamine responsive megaloblastic anaemia (TRMA) with diabetes mellitus (DM) and deafness is an uncommon autosomal recessive disorder. We report the case of an eleven-month-old girl with TRMA.Case presentation: She was admitted to the hospital with paleness, hypotonia, diarrhoea and fever. She was born to first degree consanguineous Moroccan parents. Our patient medical history was relevant for hemolytic anaemia at the age ...

Background: Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes with onset before 25 years. It is a heterogeneous disorder due to heterozygous monogenic mutations with an autosomal dominant transmission. It represents 2 to 5 percent of diabetes but is often underdiagnosed. We report three cases of MODY highlighting the features of different subtypes, two without associated abnormalities and one with renal disorder.Cases presentati...

Introduction: Vitamin D activity is controlled by its receptor (VDR). Increased risk of obesity and metabolic disturbances among certain VDR alleles has been proven. This study was conducted to assess the association between Cdx2 (rs11568820) polymorphism of VDR gene (genotypes: AG, GG) and genetic susceptibility to components of the lipid profile in survivors of acute lymphoblastic leukemia (ALL) treated during childhood.<stron...

Background: Thyroid nodules are quite common in the adult population (13%)but are relatively rarely diagnosed in childhood (0.2-5%).There is a significantly higher risk of malignancy of paediatric thyroid nodules than that in adult patients. The authors of this publication present the observations of the occurrence, diagnosis, and treatment of patients with thyroid nodules in the Department of Pediatric Endocrinology and Diabetology, Medical University...

Background: Ovotesticular disorder of sex development (DSD) is characterized by the presence of both testicular and ovarian tissue in the gonads of an individual. Selective gonadal surgery is usually performed in infancy.Objective and hypotheses: Little is known about the long-term outcome of conservative gonadal surgery in ovotesticular DSD. We present our experience in a 46,XX girl diagnosed in the neonatal period.Method: The pat...

Background: Peptide hormones synthesized in gastrointestinal tract (GI) and adipose tissues, in addition to neuropeptides, regulate growth and body weight in children. The GI microflora (i.e. Candida albicans – CA and Helicobacter pylori – HP) is an antigenic source. Based on the molecular mimicry hypothesis, intestinal microbe-derived antigens may trigger the production of autoantibodies cross-reacting with regulatory peptides.<p class="abstext...

Introduction: The National Registry of Civil Status through circular 33 of February 24, 2015 instructed the guidelines for the allocation of a sex through an inscription on the Civil Registry of Birth for intersexual minors.Objective: To create clinical and medical awareness on the importance of making an accurate diagnosis of Congenital Adrenal Hyperplasia CAH in order to avoid adverse effects due the omission of the due diligence by violating of the pr...