ESPE Abstracts

Introduction: Hypergonadotropic hypogonadism is mainly characterised by streak or dysgenetic gonads. It is primer gonadal insufficiency which occurs as a result of chromosome abnormalities, gonad developmental and steroid synthesis defects. However, Y microdeletions associated hypergonadotropic hypogonadism due to disorder of sexual development has been reported, there are no many studies. Moreover, it is not known enough to contribution for development of sexual ambiquity. Ai...

Background: Cystic fibrosis is an autosomal recessive genetic disorder affecting typically the lungs, the pancreas, the gastrointestinal tract and tissues that produce mucus secretion, such as sweat glands. Impaired glucose tolerance and cystic fibrosis-related diabetes are the most common complications of cystic fibrosis. Cystic fibrosis-related diabetes is another type of diabetes mellitus and carries some of the characteristics of type1 and type2 diabetes.<p class="abst...

Background: Most of autoimmune disease such as type 1 diabetes (T1DM), autoimmune thyroiditis (AIT) and coeliac disease (CD) often coexist in the same patient. Although there are a lot of number of studies on autoimmunity against the thyroid glands and small bowel in patients with type 1 diabetes, little is known about pancreatic β-cell immunity in patients with AIT and CD.Objective and hypotheses: We studied autoimmune markers in children patients ...

Introduction: 46,XY disorder of sexual development can cause clinical spectrum varying from complete female phenotype to isolated micropenis. However, the most common reasons are androgen synthesis and resistance, choromosome abnormalities, testicular dysgenesis, steroid synthesis defects, it is usually idiopathic. The accurate and differential diagnosis is crucial in respect of treatment, monitoring, sex determination, surgical correction. Moreover, it sometimes can be medica...

Background: Accurate and differential diagnosis of preococious puberty (PP) have some important challenges. Many parameters have used to diagnose pubertal diseases so far. However LH-RH stimulation test is considered as a gold standard procedure, ıt has some difficulties in practise.Objective: We aimed to set a newly proposed clinical and laboratory finding-based diagnostic scoring in the differential diagnosis of preoccious puberty and premature te...

Introduction: GnRH analogues common used in precocious puberty are highly effective agents. The drug dose and injection frequency should be designed for each case. However these agents are common well tolerated, some rare adverse effects may be occur. We present a case of frequent leuprolid acetate injections-related sterile abscess.Case: The case was 16-month-old boy. He had rapid growth, big penis, and excessive pubic hair. These symptoms have appeared...

Objective: There have no been studies enough about thyroid volumes of obese and adolescent children. In this study, we purposed comparing of thyroid volumes in respect of anthropometric, biochemical, metabolic parameters in following groups: Overweight, obese, morbid obese, and healthy children.Method: Two groups were compared: The first group consisted of 190 children whose BMIs are above the 85th percentile. The second group was 90 children with normal...

Objective: Familial glucocorticoid deficiency (ACTH resistance); is a rare chronic adrenal insufficiency problem. Genetic tranmission is autosomal recessive. Glucocorticoid deficiency is characterized by increased ACTH levels and normal or partial incomplete aldosterone production. The familial glucocorticoid deficiency, which is a defect in the melanocortin receptor. Hypoglycemia, convulsions, increased pigmentation in the skin can be seen from the earliest stages of life.</p...

Objective: Noonan syndrome; is an autosomal dominant genetic disorder characterized by short stature, low hair line, webbed neck, cubitus valgus, chest wall deformities and congenital heart defects. Here; the patient was admitted to hospital by parents due to undescended testis and finally infant and mother were diagnosed Noonan syndrome.Case: A 14-month-old male patient was admitted to hospital because of bilateral undescended testis. On physical examin...

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...