ESPE Abstracts

Background: Luteinizing hormone stimulating hormone (LHRH) test is the gold standard test in the diagnosis of puberty precocıous (PP). The basal levels of FSH (follicular stimulating hormone) and LH (luteinizing hormone) cannot be always reliable.Objective and hypotheses: To investigate the relation between the LHRH test and basal levels of FSH and LH.Method: Girls with puberty started before the age 8 are investigated. Eighty...

Background: Chanarin–Dorfman syndrome is a rare autosomal recessively inherited neutral lipid disorder which is characterized by congenital ichthyosis and multiple system involvement. It is diagnosed by visualization of lipid vacuoles in neutrophiles (Jordon anomaly) in suspicious cases. This syndrome can be associated with type 2 diabetes.Aim: We wished to remind this very rare disease in differential diagnosis of ichthyosis associating with diabet...

Background: Stiff-person syndrome (SPS) is a rare disorder which is characterized by muscle rigidity, spasm and cerebellar abnormalities. The etiology is not clarified yet. 80% of cases are caused by an autoantibody against GAD that inhibits synthesis of GABA. Other autoimmune diseases such as type 1 diabetes mellitus and thyroiditis are often associated.Aim: To underline the importance of considering SPS in differential diagnosis of patients with type 1...

Background: Many clinicians are aware of the systemic complications of obesity, however there are few studies on the effect of the ocular manifestations of obesity. The ocular complications of obesity include diabetic retinopathy, high intraocular pressure, cataracts, macular degeneration, floppy lid syndrome, pseudotumor cerebri, and exophthalmos. All of these complications can have serious consequences to the individual’s ocular health and visual well-being.<p class...

Backgound: Type 1 diabetes mellitus (T1DM) is one of the chronic disease frequently encountered in childhood and the non-alcoholic fatty liver disease is one of the uncommon complications in the management of these patients.Objective and hypotheses: In this study, we aimed to investigate the relationship between serum fetuin-A levels which a negative acute phase reactant and the non-alcoholic fatty liver disease in T1 diabetic patients.<p class="abst...

Background: Although phaeochromocytoma is commonly considered in the differential diagnosis paroxysmal hypertension, only a small percentage of patients are actually diagnosed with this disorder. After exclusion of phaeochromocytoma, panic attack and pseudophaeochromocytoma should be considered in the differential diagnosis in patients with these symptoms. Here we report a rare case of pseudophaeochromocytoma presented with severe symptomatic hypertension attacks.<p class=...

Background: X-linked dominant hypophosphatemic rickets (XLHR) is a rare hereditary metabolic bone disorder. Calcitriol and phosphates are used for the treatment and hyperparathyroidism rarely occurs as a complication. We report a case of XLHR who developed autonomous parathyroid hyperfunction during treatment and underwent surgery for that.Case: A male patient was presented with short stature and bone deformities at age 11 months and diagnosed with XLHR ...

Background: Klinefelter syndrome, also known as 47, XXY, is a disorder characterized by tall stature, hypogonadism and mental retardation which is caused by nondisjunction events during meiosis and occurs in 500–1 000 live male birth. Here we report a patient with Klinefelter syndrome who presented with short stature, in contrast to common tall stature presentation and was diagnosed with GH deficiency.Case: A 7-year-old male presented with short sta...

Introduction: DAX1 (NROB1) mutation, that is among the causes of primary adrenal insufficiency; is revealed with X-linked congenital adrenal hypoplasia and hypogonodotropic hypogonadism. Growth hormone (GH) deficiency is not common in affected individuals. In the literature, there are few cases of GH treatment . growth hormone therapy in two cases with DAX1 gene mutation were evaluated in clinical features and treatment responses.<strong...

Objectives: Type 1 diabetes mellitus (DM) is an autoimmune disease caused by the destruction of pancreatic beta cells. The frequency of Type 1 DM is increasing, and the highest incidence rate is in children under 5 years of age. It is estimated that children under the age of five will develop approximately 70% of the cases under the age of 15, with an increased incidence.In our study, we aimed to evaluate the demographic, clinical an...