ESPE Abstracts

Entry: Rickets is a generalized metabolic bone disease manifested by the abnormal increase in osteoid tissue, defective mineralization and deformation of the epiphyseal plate, which occurs as a result of vitamin D and mineral deficiency before epiphysial fusion occurs in adolescence. Although rickets is mostly seen due to vitamin D deficiency, it can rarely be seen in vitamin D metabolism disorders and diseases that cause phosphorus loss. Clinical findings suc...

Introduction: In the pediatric age group, the incidence of the adrenocortical cancer (ACC) is 0.2%. The effective treatment is surgical resection. The only medical option is mitotane but it has negative effects on steroidogenesis. The difficulty in the management of mitotane therapy is discussed in this case.Case report: An 1110/12 years-old boy was referred with A 5 cm diameter solid-hypoecoic mass observed by sonography in the left surrenal ...

Background: Secondary PHA is a transient aldosterone resistance condition mostly occurring in relation with urinary system infection and/or malformations. Secondary PHA cases and very few case series have been reported in the literature. In this article, we reported a case series of eight patients including different clinic presentations which have not as yet been reported in the literatüre and their long-term follow-ups.Method: Patients who have se...

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 and aims: Glucocorticoid treatment may influence bone and muscle development in patients with congenital adrenal hyperplasia (CAH). This study evaluated bone mineral density (BMD), bone geometry and muscle mass longitudinally throughout childhood.Methods: 18 patients (ten males, eight females) with classical CAH were included. BMD, bone geometry and muscle mass were measured using peripheral quantitative computed tomography (pQCT) in prepubert...

Background: Phthalates are industrial chemicals extensively used as plasticizers in a variety of commercial products. Di-(2-ethylhexyl) phthalate (DEHP) is one of the most frequently used phthalates. DEHP is readily metabolized to mono-(2-ethylhexyl) phthalate (MEHP), which is more toxic than its parent compound. There are some animal and in vitro studies suggesting that phthalates can disrupt hypothalamus-pituitary-thyroid axis.Objective and hy...

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...