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...

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...

Background: Neonatal diabetes is a rare disease having usually a genetic origin. Defects in KCNJ11, ABCC8, INS, GCK, and PDX1 genes are more frequent and may lead non-transient, non-syndromic neonatal diabetes, whereas defects in PTF1A, FOXP3, EIF2AK3, GLIS3, RFX6, and NEUROD1 genes are very rare and may lead neonatal diabetes as a part of a syndrome.Objective and hypotheses: We present a patient with GLIS3 ge...