ESPE Abstracts

Aim: Osteopetrosis is caused by autosomal mutations occurring in nine genes (TNFRSF11A, TNFSF11, TCIRG1, CLCN7, OSTM1, SNX10, PLEKHM1, CA2, and LRP5). Detecting the aetiology and providing genetic counselling via individual mutation analysis of all these genes is expensive and time consuming. Whole exome sequencing is currently increasingly used given that the cost and the time needed are similar to that of single gene sequencing analysis. Here, two newborns,...

Background: Thrombocyte volume parameters such as mean thrombocyte volume (MPV) and PDW (thrombocyte distribution volume) are parameters used in evaluation of thrombocyte size which have hemostatic importance. The increased thrombocyte volume is a marker of thrombocyte activation. The thrombocyte activity is important in pathophysiology of diseases with a tendency of thrombosis and inflammation. In adult studies it has been reported that MPV increases in thrombotic diseases su...

Background: Irisin is a newly discovered myokine which regulates energy metabolism and obesity (type 2 diabetes pathogenesis). However, results of the clinical studies investigating the relation of irisin with metabolic and anthropometric parameters remain controversial, and studies in obese children are limited.Objective and hypotheses: We aimed to investigate the relation of serum irisin level with metabolic and anthropometric parameters in obese child...

Background: The age limit for precocious puberty (PP) in girls is a topic that continues to be debated, and there is a new trend that supports the idea that the beginning of breast development in girls between ages 6 and 8 should not be accepted as true PP and it is necessary to label this clinical condition as accelerated puberty or early normal puberty.Objective and hypotheses: The aim of the current study is to determine the diagnostic criteria for gi...

Background: Juvenile Paget’s disease is a rare autosomal recessive osteopathy. Patients presenting in infancy develop severe bone deformities and may never walk. Bisphosphonate therapy is used to decrease bone turnover and it has generally good responses in milder forms of the disease. However there is no long-term experience of bisphosphonates in severe infantile forms.Case report: A 9 month-old boy was referred to our clinic for bone deformities. ...

Background: Tacrolimus is highly potent immunosuppressant agent. Despite it is quite prophylactic effect on renal allogreft rejection, the most marked side effect of tacrolimus is lead to posttranslated diabetes mellitus. There are some predictive risk factors which are determined on development of tacrolimus related diabetes mellitus: Advanced age, familial history, genetic factors, ethnicity, impaired glucose tolerance or metabolic syndrome in pre-transplantation period, obe...

Background: Obesity is considered to be a chronic inflammatory state in which the dysfunction of adipose tissue plays a central role. Adipose tissue is known to express and secrete a variety of products known as ‘adipokines’ including leptin, adiponectin, resistin, and visfatin, as well as cytokines and chemokines such as tumor necrosis factor-α (TNF-α), interleukin-6, and monocyte chemoattractant protein-1.Objective and hypotheses: T...

Polycystic ovary syndrome is the most common endocrinological disease in women of reproductive age. Although it is thought that pathologies such as insulin resistance, chronic low-level inflammation and hyperandrogenism are central theme of the disease, the exact pathophysiology of the disease has not been fully understood. This study’s aim is to reveal the relationship between routine endocrinological and immunological markers related to chronic inflammation, and to inv...

Introduction: Congenital adrenal hypoplasia, a rare cause of childhood primer adrenal insufficiency, is caused by defects in transcription factors involved in the development of adrenal gland. One of them is the NROB1 (DAX1) gene, localized in Xp21.2. DAX1 mutations have been identified that cause X-linked adrenal hypoplasia congenita. Infants affected with X-linked adrenal hypoplasia congenita may present with salt-wasting, micropenis or cry...

Introduction: Costello syndrome is a rare RASopathy that is associated with such characteristics as prenatal overgrowth, postnatal growth retardation, mental-motor retardation, coarse face appearance, loose skin on the neck, hands and feet, cardiovascular abnormalities, deep palmar and plantar lines and a predisposition to various types of cancer. Several endocrine disorders, including growth hormone deficiency, adrenal failure, glucose intolerance, hyperprolactinemia and hypo...