ESPE Abstracts

Background: Neonatal hyperparathyrodisim can be caused by homozygous and heterozygous inactivating mutation in the calcium-sensing receptor can cause familial hypocalciuric hypercalcaemia (FHH) or neonatal sever hyperparathyroidism (NSHPTT). NSHPT represents the most sever expression of FHH and courses as life threatening condition.Objective and hypotheses: Neonatal hyperparathyrodisim can be caused by homozygous and heterozygous inactivating mutation in...

Monogenic autoimmune diabetes results from a single highly penetrant mutation that causes autoimmunity leading to destruction of the beta-cells. Identifying monogenic autoimmune diabetes can be a challenge; early-onset type 1 diabetes (T1D) can cluster with additional autoimmune diseases due to shared polygenic risk, particularly from the HLA DR3 and DR4 alleles, and islet and other organ specific autoantibodies are present in patients with both monogenic and polygenic aetiolo...

Nearly 30% of children suffer a fracture during till the end of growth. Most of these fractures are accidental fractures and many are located at the forearm. Non accidental fractures can by caused due to an appropriate force (e.g. child abuse) or can be classified as pathological fractures which are often caused by benign tumours like bone cysts, non-ossifying fibroma or fibrous dysplasia. Most reasons for fractures can be detected by carefully recording the medical history of...

Background: Involvement of multiple spesific endocrine organs in systemic lupus erythematosus (SLE), as initial manifestations, are quite rare. These manifestations can appear singly or combined. But they have been usually reported singly. We report a child case who coexists many of rare clinical features of SLE at the same time at onset.Objective and hypotheses: Polyglanduler autoimmune syndrome may be a part of SLE. Coexistence of many polyglanduler au...

Central hypothyroidism can be best defined as lower than desirable thyroid hormone production and secretion because of insufficient stimulation of a normal thyroid gland by a defective pituitary or hypothalamus, resulting in a too low plasma or serum (free) thyroxine (FT4) concentration accompanied by a more or less normal thyrotropin (TSH) concentration. Central hypothyroidism can occur isolated or as part of multiple pituitary hormone deficiency and can be a congenital or ac...

With the rising prevalence of childhood obesity, there has been an increase in the number of children presenting with severe obesity. Whilst only a relatively small proportion of severely obese children will have the classical features associated with the well-established genetic obesity syndromes such as Prader-Willi syndrome, there is increasing recognition that highly penetrant genetic disorders can frequently present as severe obesity alone without developmental delay, dys...

Background: Sotos syndrome is a rare syndrome; with distinctive clinical findings include typical facial appearance, learning disability; and overgrowth. Advanced bone age can be detected in some cases while precocious puberty reported only in two cases until now.Case: A 6,5 months of age male infant admitted to clinic with neuromotor delay and macrogenitalia. He was second child of unrelated healthy parents, and birth-weight was 4200 g. In physical exa...

Male reproductive disorders are common and there is evidence for increasing incidence over recent decades. These disorders may present at birth (hypospadias and cryptorchidism) or in adulthood (infertility, testicular cancer) and can arise as a result of underlying genetic abnormalities or following environmental (e.g. phthalates) and pharmaceutical (e.g. analgesics, chemotherapy) exposures that impact fetal, neonatal of prepubertal testicular development. Understanding the re...

Background: MicroRNAs are small non-coding RNAs that regulate gene expression and play major roles in many physiological and pathological processes.Objective and hypotheses: Determine whether changes in microRNA expression contribute to β-cell dysfunction and/or loss and favor the development of diabetes.Method: Analysis of the changes in microRNA expression occurring in pancreatic islets of diabetes animal models and assessme...

Histomorphometric evaluation of transiliac bone samples represents a standardized tool for studying bone metabolism, yielding information on bone both static and dynamic parameters on bone formation and static resorption parameters. Beyond these routine evaluations, the identical bone biopsy sample can be further used to assess submicroscopic tissue characteristics of the bone matrix. At the material level, bone matrix can be considered as a mineral/organic matrix composite wh...