ESPE Abstracts

We described a family in which MODY-GCK was detected in 6 people and its course varied.Materials and methods: The diagnosis of GCK-MODY was verified by the proband and his relatives on the basis of direct automatic sequencing and sequencing by Sanger.Results: Proband – a boy of 12 years, diabetes mellitus (DM) type 1 is diagnosed at the age of 11 years. He felt polydipsia, polyuria. Body weight was normal, he has not any disea...

Introduction: The incidence of type 1 and type 2 diabetes mellitus in children and adolescent has been on the rise for the last decades. While the reasons behind these are not known, one possible explanation for the emergence of type 2 diabetes in children is the increase of obesity and decreasing physical activity. Adolescents are at the cross roads between childhood and adulthood and that makes classification of their diabetes mellitus at presentation a diagnostic challenge....

Background: To date, six cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity later in life, but a characteristic phenotype for 17p13.1 microduplication has not been delineated.Objective and hypothesis: We describe a young patient with a 422 Kb microduplication maternally inherited in 17p13.1, affected by mild intellectual disability and ...

Background: A thirty-four months old boy was referred for precocious puberty. He was the first child of healthy non-consanguineous parents. His family history was unremarkable. He had no exposure to oestrogenic endocrine-disrupting chemicals. He had presented secondary sexual characteristics for five months: pubic hair, enlarged testicular volume to 6 ml (Tanner stage P2A1G2) and enlarged penile size. He had a deepening voice and aggressive behavior. He had a significant growt...

Objective: Congenital isolated thyrotropin (TSH) deficiency is a rare condition due to autosomal recessive defects in TSHβ, TBL1X, IGSF1, TRHR genes. There are a few patients described with TSHβ mutations to date. These patients display the typical manifestations of severe untreated congenital hypothyroidism. Most patients are unrecognized, even in newborns screening settings due to unelevated TSH levels, which results in severe growth fail...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare syndrome characterized by unresponsiveness or resistance to the action of aldosterone. It manifests with persistent salt loss, resulting in hyponatremia, hyperkalemia and metabolic acidosis. High levels of aldosterone and renin activity, confirms the diagnosis. When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease. Often occurs in the neonatal period and presents with recurrent ...

Background: Congenital hyperthyroidism is a rare disease. In most patients with congenital hyperthyroidism are autoimmune forms caused by maternal thyroid-stimulating antibodies. In contrast to autoimmune hyperthyroidism that is transient, nonautoimmune form of congenital hyperthyroidism is persistent and results from activating germline mutations in the thyrotropin receptor (TSHR) gene.Case presentation: We report the case of a Korean male infant with s...

Background: Although there is considerable literature dealing with the diagnosis, initial management and early complications of meningococcemia, data about late complications is scarce. Growth plates may be influenced permanently by ischemia leading to late orthopedic complications such as leg length discrepancy, angular deformity and distorted body proportion. We present a patient with disproportionate short stature due to late squeal of meningococcemia who was misdiagnosed a...

Background: MODY is monogenic. About 1% of diabetes has a monogenic cause but is frequently misdiagnosed as DM1 or DM2.Objective and hypotheses: It is important to study family history of patients with atypical diabetes forms for verification of diagnosis and prognosis.Method: Genetic, biochemical and hormonal testing, 2 patients were examined.Results: At pre-school medical examination a general practitioner ...

Introduction: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease. The NF-1 gene is located on chromosome 17 and encodes a gene product called neurofibromin. Mutation or deletion of the NF-1 gene results in phenotypic features involving many systems. Hypophosphatasia is a group of inherited disorders characterized by impaired mineralization of bones and/or teeth and low serum alkaline phosphatase (ALP) activity. It occurs as a result of a loss-of-...