ESPE Abstracts

Background: Studying patients with rare Mendelian diabetes has highlighted molecular mechanisms regulating β-cell pathophysiology. Previous, experimental studies have shown that Class IIa histone deacetylases (HDAC4, 5, 7, and 9) modulate mammalian pancreatic endocrine cell differentiation, function and finally glucose homeostasis.Methods: We performed exome sequencing in one adolescent boy with non-autoimmune di...

Objective: Lifetime risk of having Type 1 Diabetes Mellitus [T1DM] increases when having a blood relative with T1DM. A Finish study reports 12.2% and 11.9% of T1DMs having a first degree relative [FDR] and second degree relative [SDR] with T1DM[1]. Data from India regarding proportion of children with T1DM FDR/SDR is non-existent. Objective is to find out the same.Methods: We examined the electronic database of 902 T1DM ...

SARS-CoV- 2 pandemic induced to develop new strategies to abate the distance between patients, families and paediatricians, especially in cases of patients who need long-term therapies. Furthermore, the need to minimize the inflow of children and adolescents affected by chronic diseases into the hospitals induced paediatric endocrinologists to limit visits and to consider a new setting to assist children in treatment with growth hormone (GH). Telemedicine and smart-working cou...

Introduction: Paediatric intracranial germ cell tumours (IC-GCTs) are often accompanied by precocious or delayed puberty, either at diagnosis caused by tumour itself or during follow-up as consequence of treatments.Aims: We examined the prevalence of pubertal dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow-up.Methods: We recorded clinical...

Cause: The Colombian Society of Urology published in May 1993; A Modern Approach to Sexual Ambiguity Syndromes which discuses sexual differentiation and sexual disorders associated with sexual development to determine a binary gender with surgical reconstruction.Objective: Gather the members of ACEP (Colombian Association for Pediatric Endocrinology) to clarify, update and create an approach of human sexuality from a biosociocultural pe...

Background: Vitamin D insufficiency is more frequent than expected also in Western Europe, however the relieve of a ‘health’ child with rickets is uncommon in Caucasians.Objective and hypotheses: Explain clinical severity by a genetic background.Method: We describe the clinical case of a 2.5-year-old girl with skeletal deformities. She was 86.5 cm (10° Cent), 12.5 kg (3–10° Cent); PH1B1. She showed typical ...

Background: Severe short stature is considered when height falls below −4 SDS. When infants with extreme short stature are evaluated, often multidisciplinary input is required, before a formal diagnosis is met.Objective and hypotheses: We want to learn from delayed diagnosis of child with panhypopituitarism and review subsequent difficulties in starting GH treatment.Method: Retrospective review of notes, investigations and pa...

Background: Albright hereditary osteodystrophy (AHO) is a rare constellation of dysmorphic physical features such as short stocky build, round face, cutaneous ossification, and metacarpophalangeal abnormalities as well as pseudohypoparathyroidism (PHP) with variable hypocalcemia, and hyperphosphatemia. This hereditary metabolic disorder is caused by a mutation in the GNAS1 gene in the q13.11 region of chromosome 20.Case Report:</...

Background: Cystic fibrosis is associated with abnormal lipid metabolism and this anormality is commonly characterized by low cholesterol and hypertriglyceridemia. The increasing in life expectancy of cystic fibrosis patients has enhancing the interest for prevent the risk factors for cardiovascular diseases like dyslipidemias.Objective and hypotheses: Determine whether concentrations of cholesterol and triacylglycerol are related to nutritional status a...

Background: Heterozygous alterations of SHOX and its regulatory region PAR1 are identified in approximately 70% of Léri-Weill dyschondrosteosis and 2–5% of idiopathic short stature cases. Identification of a SHOX mutation enables GH treatment to be offered to the patient.Objective: To evaluate the clinical characteristics of seven patients with SHOX haploinsufficiency and their evolution.Method: Retrospective analysis of ...