ESPE Abstracts

Aim: Central precocious puberty (CPP) is defined as premature activation of the hypothalamic–pituitary–gonadal (HPG) axis before the age 8 in girls. Precocious puberty starting at a very young age causes a severe loss in height potential and should be treated with gonadotropin releasing hormone agonists (GnRHa). However, there are controversial results about the benefit of the GnRHa treatment in girls whose CPP is initiated near the age 8. This stu...

Introduction: Mutations in the insulin receptor (INSR) gene usually progress with insulin resistance and hyperglycemia. However, rare heterozygous INSR gene mutations that cause hyperinsulinemic hypoglycemia (HH) have also been described. A case with hyperinsulinemic hypoglycemia due to a new variant mutation in the INSR gene, is presented.Case: A 13-month-old male patient was referred to us with complaints of contractio...

Introduction: Pituitary stem interruption syndrome (PSIS) is a congenital anomaly of the pituitary gland characterized by the absence or thinness of the pituitary stalk, an ectopic posterior pituitary gland and a hypoplastic or aplastic anterior pituitary gland. Our case is an example of this rare syndrome.Case: A 12-month-old male patient was referred to us by pediatric urology for micropenis and undescended testis. He ...

Introduction: Diabetes mellitus can develop as a result different etiology. Mitochondrial diseases may also cause diabetes mellitus. However, mitochondrial mutations are generally thought to be accompanied by a severe clinical finding. We present a patient who is determined 80% heteroplasmic deletion in the MT-DNT1 gene, with hearing loss and mitochondrial diabetes, which is quite different from the classical phenotype.Case:</str...

Object&idot;ves: In congenital primary hypothyroidism, the effect of treatment on thyroid volume is not known. In this study, the change in thyroid volume according to etiology and its effect on treatment discontinuation rates in the treatment of congenital primary hypothyroidism were investigated.Mater&idot;als and Methods: The clinical features and thyroid ultrasonography findings at the time of diagnosis and at the ag...

Introduction: Growth hormone (GH) exerts its effect through insulin-like growth factor 1 (IGF-I), an intracellular signalling molecule whose production is stimulated by STAT-5b after binding to the growth hormone receptor. STAT-5b deficiency, is characterized by short stature, immune dysregulation and chronic lung disease. And these occur as a result of disruption of the growth hormone axis. Our case is an example of STAT-5b gene mutation, which is a rare dise...

Introduction: Type 1 Diabetes Mellitus (T1DM) is a chronic disease in children and adolescents.There are studies showing that quality of life is affected in T1DM. In our study, we aimed to evaluate the effect of diabetes knowledge levels on quality of life and metabolic status.Methods: Patients aged >10 years who were diagnosed with diabetes mellitus in our clinic and who were given diabetes education and who had reg...

Background: Although it is reported that central precocious puberty (CPP) GnRH analogue (GnRHa) treatment decreases the growth velocity, its relation with IGF-1 is controversial. We aimed to investigate the effects of GnRHa treatment on IGF-1 level and the relationship between IGF-1 level and growth velocity (GV) in our study.Method: Forty-four girls with CPP, who started breast development before the age of 8 years, were enrolled in the study. IGF-1 lev...

Introduction: Childhood obesity is an important public health problem with increasing prevalence. Type 2 diabetes (T2DM) is strongly associated with obesity and metabolic syndrome. Adressing obesity and insulin resistance by drug treatment represents a rational strategy for the prevention of T2DM.Aim: The aim of our study was to evaluate the one year metformin treatment’s long-term effectiveness in children and adolescent.Meth...

Background: Orthopedic complications related to the GH are rare and there is no clear pathological association between the use of GH and these complications. Calcaneal apophysitis is an inflammation of the apophysis and is caused by the constant pull of the Achilles tendon. A literature search did not reveal a similar case of calcaneal apophysitis during GH use.Case presentation: A 13-year-old male receiving GH treatment for isolated GH deficiency presen...