ESPE Abstracts

Pseudohypoaldosteronism is one of the least explored questions in clinical endocrinology. That leads to complexity in diagnosis and differential diagnostics of disease. A boy, aged 13 days was admitted to the hospital with complains: vomiting, low weight gain, constipation. Biochemical blood assay (BBA) and acid-base balance of blood: level of sodium – 127 mmol/l (N 132–145 mmol/l), potassium – 6.6 mmol/l (N 3.1–5.1 mmol/l), chlorine &#15...

Background: Adult height prediction models (AHP) were designed several decades ago based on the Caucasian population, hence they are not adapted to our population’s characteristics and secular changes. Technological advances have improved the accuracy of bone age (BA) reading through automated analysis, which has been incorporated into new AHP models, but have not been evaluated in the Mexican population.Objective:...

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...

Introduction: The aldosterone synthesis is dependent on aldosterone synthase (AS), an enzyme encoded by the CYP11B2gene, one of the cytochrome P450 enzymes (P450c11Aldo). It catalysis the final steps of adosterone biosynthesis.Case: A 10 days old boy is presented with poor feeding, jaundice and weight lost. He was born from a 35 years old mother, as 4 th children, from consanguineous parents. One sister and one brother o...

Introduction: We describe a 4 month old term infant of a vitamin D deficient mother who presented with bronchopneumonia and cardiomegaly needed respiratory support. Despite resolution of bronchopneumonia he had persistent normal anion gap metabolic acidosis. In the process of investigating into symptomatic hypocalcaemia revealed rickets with 25-hydroxy-vitamin D (Vit D) deficiency and high parathyroid hormone (PTH) which led to distal renal tubular acidosis. B...

Pseudohypoparathyroidism (PHP) is a disorder caused by PTH resistance due to a genetic defect in imprinted GNAS cluster. It is characterized by high phosphorus, low to normal calcium and elevated PTH. It is classified into types 1a, 1b, 1c, pseudopseudohypoparathyroidism and type 2. Type 1a is often associated with Albright Hereditary Osteodystrophy (AHO) which is characterized by short stature, round facies, obesity, brachydactyly, ectopic calcifications and developmental del...

Background:There are numerous reports indicating increased risk of diabetic ketoacidosis (DKA) in new-onset type 1 diabetes (T1D) in childhood during COVID-19 pandemic. Delayed diagnosis, reduced access to immediate health care and psychological effects of pandemic have been suggested as possible reasons.Methods: We conducted cross sectional, single-center study at Department of Pediatrics, University Hospital Center Zag...

Introduction: Physical examination remains the cornerstone of medical practice. However, its importance has been underestimated during COVID-19 pandemic because of concerns related to exposure risk and use of personal protective equipment. Solitary median maxillary central incisor (SMMCI) may be an isolated clinical trait or associated with other anomalies and endocrine pathologies including hypopituitarism, hypothyroidism, isolated growth hormone (GH) deficie...

Background: TransCon hGH is a sustained-release prodrug in development as a long-acting GH for children with growth hormone deficiency (GHD). TransCon hGH consists of a parent drug, growth hormone (hGH; somatropin), that is transiently bound to a carrier via a TransCon linker. The carrier extends hGH circulation time in the body and fully active hGH is released over one week at physiologic pH and temperature. Unlike other molecules in development, TransCon hGH...

Background: Aldosterone synthase deficiency (ASD) is caused by biallelic inactivating CYP11B2 variants. Infants mainly present with failure to thrive and salt wasting in early infancy. Moreover, different factors may cause downregulation of aldosterone synthase and secondary deficiency.Objective and Hypotheses: We present a toddler with polyuria and polydipsia and steroid hormone precursors suggestive of ASD, bu...