hrp0086p2-p75 | Adrenal P2 | ESPE2016

Clinical Management in Secondary Pseudohypoaldosteronısm: A Case Series

Korkut Sabriye , Akin Leyla , Hatipoglu Nihal , Gunduz Zubeyde , Dursun Ismail , Ozdemir Ahmet , Kurtoglu Selim

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...

hrp0082p3-d2-745 | Diabetes (3) | ESPE2014

A Case of Type 2 Diabetes Associated with Ichthyosis: Chanarin–Dorfman Syndrome

Hatipoglu Nihal , Okdemir Deniz , Akin Leyla , Gokay Songul , Kardas Fatih , Kendirci Mustafa , Gul Ulku , Kurtoglu Selim

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...

hrp0082p3-d3-750 | Diabetes (4) | ESPE2014

A Case of Type 1 Diabetes Associated with Cerebellar Ataxia: Stiff-Person Syndrome

Kurtoglu Selim , Okdemir Deniz , Hatipoglu Nihal , Akin Leyla , Gul Ulku , Canpolat Mehmet , Kendirci Mustafa

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...

hrp0084p2-576 | Thyroid | ESPE2015

Relationship between Cord Blood Phthalates and Maternal and Neonatal Thyroid Functions

Ozsoylu Serkan , Akin Leyla , Gunes Tamer , Kendirci Mustafa , Narin Figen , Kurtoglu Selim

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...

hrp0084p3-620 | Adrenals | ESPE2015

A Rare Cause of Hypertensıon: Pseudophaeochromocytoma

Hatipoglu Nihal , Gul Ulku , Okdemir Deniz , Akin Leyla , Kendirci Mustafa , Kurtoglu Selim

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=...

hrp0084p3-666 | Bone | ESPE2015

Parathyroid Adenoma Should be Considered in the Management of Hypophosphataemic Rickets

Okdemir Deniz , Gul Ulku , Akin Leyla , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

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 ...

hrp0084p3-803 | DSD | ESPE2015

A Case of Klinefelter Syndrome with an Atypical Presentation

Gul Ulku , Bas Veysel Nijat , Okdemir Deniz , Akin Leyla , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

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...

hrp0092p2-169 | GH and IGFs | ESPE2019

Experience of Growth Hormone Therapy in Two Cases with Congenital Adrenal Hypoplasia

Suman Gök Ebru , Direk Gül , Uzan Tatli Zeynep , Akin Leyla , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

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...

hrp0092p3-67 | Diabetes and Insulin | ESPE2019

What has Changed in Type 1 Diabetes Mellitus Cases in the Last Eight Years? A Single Center Experience

Çiçek Dilek , Tatli Zeynep Uzan , Direk Gül , Akin Leyla , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

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...

hrp0089p1-p258 | Thyroid P1 | ESPE2018

Thyroid Hormone Resistance Beta: Eighteen Pediatric Patient Experience

Siraz Ulku Gul , Direk Gul , Akin Leyla , Bircan Rıfat , Tatli Zeynep Uzan , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Resistance to thyroid hormone (RTH) is a rare genetic disease caused by reduced tissue sensitivity to thyroid hormone. The hallmark of RTH is elevated serum levels of thyroid hormone with unsuppressed thyrotropin (TSH). The most common form of RTH results from minor defects in the ligand-binding domain of the TRb gene, resulting in impaired T3-induced transcriptional activity. This study aimed to characterize clinical and genetic features of THD suspected cases in our clinic. ...