ESPE Abstracts

Background: Type 1 diabetes (T1D), the most frequent type of diabetes in paediatrics, can be easily misdiagnosed presenting with hyperglycaemia due to monogenic diabetes. Objective and hypotheses: We report a 13-year-old boy with monogenic diabetes, initially diagnosed and treated as T1D.Method: The patient presented at 7.5 years of age with a febrile illness and mild hyperglycaemia. An oral glucose tolerance test (OGTT) then was normal,...

Background: Primary generalized glucocorticoid resistance (PGGR) is a rare, familial or sporadic condition, characterized by generalized, partial tissue insensitivity to glucocorticoids. The molecular basis of this condition has been ascribed to mutations in the NR3C1 (human glucocorticoid receptor, hGR) gene, which impair the molecular mechanisms of hGR action and decrease tissue sensitivity to glucocorticoids. However, a considerable number of patients with PGGR do ...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by mineralocorticoid resistance with subsequent salt wasting, hyperkalemia, metabolic acidosis, and elevated plasma renin and aldosterone levels.Patients and methods: We report a male newborn that presented with failure to thrive and sustained hyponatremia during his early postnatal period. He was conceived after IVF (twin pregnancy) and prematurely born by cesare...

Background: PHA1 is a rare inherited disease characterized by resistance to aldosterone action and distinguished in two forms: the autosomal dominant renal form caused by mutations of the NR3C2 gene (MR) and the autosomal recessive systemic form caused by mutations of the subunit genes SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel (ENaC). The classic phenotype of the autosomal recessive form of PHA1 is usually severe, lifelong, and expressed with mu...

Background: DAX-1 mutation is a rare genetic cause of adrenal insufficiency also causing hypogonadotropic hypogonadism.Case presentation: The patient was born to a G1P1 mother. At the age of 1 month he developed acidosis, hyponatremia, hyperkalemia, diagnosed with congenital adrenal hyperplasia and started on hydrocortisone and fludrocortisone. No CYP 21 mutation was identified, fludrocortisone was continued for presumed hypoaldosteronism, hydrocortisone...

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause of CAH, 11β-hydroxylase deficiency (11βOHD), is attributed to pathogenic variants in the CYP11B1gene encoding for the enzyme 11β-hydroxylase (11βOH).Case presentation: A thirteen-year-old g...

Introduction: HNF1A-MODY (MODY3) is a common subtype of the Maturity Onset Diabetes of the Young (MODY), a monogenic autosomal dominant disease presenting as a nonketotic diabetes with onset usually during adolescence, or early adulthood. HNF1A-MODY is less common among children as the hyperglycaemia usually manifests after 10th year of life.Aim: We describe a young girl presented with hyperglycaemia and glysosuria.<...

Introduction: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD), characterized by early onset of hyperglycemia, autosomal dominant inheritance and defect in β-cell insulin secretion. To date, 14 different MODY subtypes have been reported, each one with a distinct genetic etiology.Materials and Methods: We designed a NGS TGP of seven ...

Introduction: Primary Generalized Glucocorticoid Resistance or Chrousos syndrome (CS) is a rare sporadic or familial disorder characterized by generalized, partial tissue insensitivity to glucocorticoids. Mutations of the NR3C1 gene, which encodes the human glucocorticoid receptor, have been identified in many but not all patients with CS.Objective: To identify novel genes related to CS in patients without NR3C1 gene mutations.<p cl...

Background: PHA1 is a rare inherited disease characterized by resistance to aldosterone action and distinguished in two forms: the autosomal dominant renal form caused by mutations of the NR3C2 gene (MR) and the autosomal recessive systemic form caused by mutations of the subunit genes SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel (ENaC). The classic phenotype of the autosomal recessive form of PHA1 is usually severe, lifelong, and expressed with mu...