hrp0086p2-p177 | Bone & Mineral Metabolism P2 | ESPE2016

Cinacalcet Treatment in a Child with Concurrent Juvenile Idiopathic Arthritis and Hypocalciuric Hypercalcemia

Hacihamdioglu Bulent , Delil Kenan , Ozkaya Ozan

Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous condition resembling primary hyperparathyroidism but not curable by surgery. Cinalcelcet may improve symptoms some patients but limited experienced especially in children. A 10 years old child evaluated by uveitis, sacroileitis, spondyloarthritis and diagnosed as HLA-B27 positive juvenile idiopathic arthritis (JIA). Also at the same time he evaluated by high calcium, low phosphate and inappropriately hig...

hrp0092p2-235 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A Case of Gonadotropin-Independent Precocious Puberty Due to Germ Cell Tumor in the Frontal Lobe

Hacihamdioglu Bulent , Yalcin Koray , Suna Celen Safiye , Hazar Volkan

Introduction: It is known that gonadotropin-independent or peripheral precocious puberty (PPP) may develop due to tumors that secrete beta human chorionic gonadotropin (Beta-HCG). These tumors can be located in gonads, liver, mediastinum or central nervous system. HCG-producing tumors of the central nervous system are rare, most commonly seen in the suprasellar and pineal regions. However, any germ cell tumor (GCT) containing the syncytiotroblastic giant cell ...

hrp0086p2-p64 | Adrenal P2 | ESPE2016

Cushing Syndrome Due to Adrenal Adenoma in an Adolescent Patient and Successful Treatment with Laparoscopic Surgery

Hacihamdioglu Bulent , Ozgurhan Gamze , Guney Asuman , Haluk Guvenc Bekir

Cushing syndrome (CS) is a rare disease in children associated with weight gain and stunting of their linear growth. In older children, pituitary adenomas are a more common cause of CS. The clinical presentation of CS varies in children such as truncal obesity, striae, facial plethora, hypertension, and PKOS-like (polycystic ovary syndrome) feature. Here in we report an adolescent presented with obesity, short stature and late puberty but without metabolic syndrome or hirsutis...

hrp0092p2-51 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Perinatal form Hypophosphatasia Caused by a Novel Large Duplication of ALPL Gene and two year follow-up under Enzyme Replacement Therapy; A case report

Hacihamdioglu Bulent , Ozgurhan Gamze , Pereira Catarina , Tepeli Emre , Acar Gulsen , Comert Serdar

Hypophosphatasia is a rare disease caused by mutations in the gene encoding tissue- nonspecific isoenzyme of alkaline phosphatase. Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa treatment mineralizes the skeleton and improves respiratory function and survival in severe forms of hypophosphatasia.The newborn was evaluated for respiratory failure and generalized hypoton...

hrp0082p1-d2-250 | Thyroid (1) | ESPE2014

In Patients with Chronic Autoimmune Thyroiditis, Investigation of the Effects of Functions of Regulatory T Cells and Vitamin D

Siklar Zeynep , Karatas Deniz , Dogu Figen , Kocaay Pinar , Hacihamdioglu Bulent , Ikinciogullari Aydan , Berberoglu Merih

Background: Treg cells are characterized by expression of Foxp3 molecule that serve as keys in the maintenance of peripheral tolerance and in controlling the immune response. The exact role of Treg cells in the pathogenesis of CAT has not been recognized yet.Objective and hypotheses: It is suggested that vitamin D is one of the factors that can regulate the function of Treg cells. In this study, the relationship between Treg cells (levels and expression)...

hrp0086fc15.2 | Late Breaking | ESPE2016

Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome

Prasad Rathi , Maharaj Avinaash , Meimaridou Eirini , VanVeldhoven Paul , Buonocore Federica , Barbagaleta Eliana , Bergada Ignacio , Cassinelli Hamilton , Das Urmi , Krone Ruth , Saleem Moin , Hacihamdioglu Bulent , Sari Erkan , Storr Helen , Achermann John , Guasti Leonardo , Braslavsky Debora , Guran Tulay , Ram Nanik , Metherell Lou

Background: Primary adrenal insufficiency (PAI) is most commonly congenital in children. PAI is genetically heterogeneous with some gene defects causing syndromic disease. A third of patients have no genetic diagnosis meaning their prognosis is uncertain. We recently investigated families with a novel combination of PAI and steroid resistant nephrotic syndrome.Objective and hypotheses: To discover the genetic defect underlying this syndrome.<p class=...

hrp0084p1-144 | Miscelleaneous | ESPE2015

Primary Adrenal Insufficiency in Children without Congenital Adrenal Hyperplasia: Molecular and Clinical Characterisation of a Nationwide Cohort

Guran Tulay , Buonocore Federica , Saka Nurcin , Ozbek Mehmet Nuri , Aycan Zehra , Bereket Abdullah , Bas Firdevs , Darcan Sukran , Bideci Aysun , Turan Serap , Guven Ayla , Tarim Omer , Agladioglu Sebahat Yilmaz , Atay Zeynep , Ozen Samim , Demir Korcan , Akinci Aysehan , Aydin Banu Kucukemre , Buyukinan Muammer , Yuksel Bilgin , Yildiz Metin , Akcay Teoman , Kara Cengiz , Ozgen Tolga , Catli Gonul , Isik Emregul , Bolu Semih , Ozhan Bayram , Gurbuz Fatih , Ucar Ahmet , Demirbilek Huseyin , Abali Zehra Yavas , Doger Esra , Eren Erdal , Berberoglu Merih , Hacihamdioglu Bulent , Achermann John C.

Background: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires accurate diagnosis and urgent treatment. Congenital adrenal hyperplasia is the most common cause of PAI in children. Non-CAH causes of PAI are relatively rare. Although several molecular causes have been found, it is emerging that considerable overlap in the clinical and biochemical features of these conditions exists.Objective and hypotheses: We inv...

hrp0086p2-p170 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Clinical and Genetic Analysis of Five Patients with Vitamin D-Dependent Rickets Type 1A

Hacıhamdioglu Bulent , Ozgurhan Gamze , Karakaya Zeynep , Keskin Ece

The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare autosomal recessive disorder. Herein we report five patients with 1α-hydroxylase deficiencies. We studied six patients from three families who diagnosed as 1α-hydroxylase deficiency clinically. All patients had hypocalcemia, hypophosphatemia, hyperphosphatasemia, elevated serum PTH, normal or high v...

hrp0082p3-d3-839 | Growth (2) | ESPE2014

A Rare Syndrome Benefits from GH Therapy: Hypotonia–Cystinuria Syndrome

Akin Onur , Hacihamdio[gbreve]lu Bulent , Ye[scedil]ilkaya Ediz

Background: Hypotonia–Cystinuria syndrome (HCS), characterized by hypotonia at birth, poor feeding and growth retardation is an autosomal recessive disorder caused by homozygous microdeletions of PREPL and SCL3A genes. Increase in the urinary amino acids including cystine, lysine, arginine, and ornithine is the main laboratory finding.Objective and hypotheses: HCS was described in 17 patients so far and previous reports with favorable responses to G...

hrp0086p2-p184 | Bone &amp; Mineral Metabolism P2 | ESPE2016

DiGeorge Syndrome and 10p Deletion

Sari Erkan , Akar Hatice , Akin Onur , Zeybek Cengiz , Kozan Salih , Unay Bulent , Yesilkaya Ediz

Background: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare condition inherited as an autosomal dominant trait. The responsible genetic defect is in the region 10p. Phenotype is very similar to DiGeorge Syndrome (DGS) which occurs due to 22q11 microdeletion.Method: An 8-year-old girl was referred to Pediatric Endocrinology outpatient department because of hypoparathyroidism. She was born at 36 weeks after a normal pregnancy and ...