Person: DEMİRCİOĞLU, SERAP
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DEMİRCİOĞLU
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Publication Open Access Normative Data of Thyroid Volume-Ultrasonographic Evaluation of 422 Subjects Aged 0-55 Years(GALENOS YAYINCILIK, 2015-06-05) BEREKET, ABDULLAH; Aydiner, Omer; Aydiner, Elif Karakoc; Akpinar, Ihsan; Turan, Serap; Bereket, AbdullahObjective: To establish local normative data of thyroid volume assessed by ultrasonography in subjects aged 0-55 years living in Istanbul, Turkey. Methods: Subjects without any known history of thyroid disease, of major surgery and/or chronic disease were enrolled in the study and evaluated by physical examination and thyroid ultrasonography. Thyroid gland and isthmus at usual location, each lateral lobe volume with three dimensions, ectopic thyroid tissue and echogenicity of the gland were assessed. Results: Initially, 494 subjects were enrolled in the study. Subjects showing heterogeneous thyroid parenchyma (n=21) and/or nodule (n=51) in ultrasonography were excluded. Final analysis covered 422 subjects (216 males, 206 females). Thyroid volume was found to significantly correlate with height, weight, age and body surface area (r=0.661, r=0.712, r=0.772 and r=0.779, respectively; p<0.0001 for all). These correlations were even stronger in subjects younger than 18 years (r=0.758, r=0.800, r=0.815 and r=0.802, respectively; p<0.0001 for all). Conclusion: The study provides updated reference norms for thyroid volume in Turkish subjects which can be used in the diagnosis and follow-up of patients with thyroid diseases.Publication Open Access Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group(GALENOS YAYINCILIK, 2015-09-05) BEREKET, ABDULLAH; Darendeliler, Feyza; Yesilkaya, Ediz; Bereket, Abdullah; Bas, Firdevs; Bundak, Ruveyde; Sari, Erkan; Aydin, Banu Kucukemre; Darcan, Sukran; Dundar, Bumin; Buyukinan, Muammer; Kara, Cengiz; Mazicioglu, Mumtaz M.; Adal, Erdal; Akinci, Aysehan; Atabek, Mehmet Emre; Demirel, Fatma; Celik, Nurullah; Ozkan, Behzat; Ozhan, Bayram; Orbak, Zerrin; Ersoy, Betul; Dogan, Murat; Atas, Ali; Turan, Serap; Goksen, Damla; Tarim, Omer; Yuksel, Bilgin; Ercan, Oya; Hatun, Sukru; Simsek, Enver; Okten, Aysenur; Abaci, Ayhan; Doneray, Hakan; Ozbek, Mehmet Nuri; Keskin, Mehmet; Onal, Hasan; Akyurek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kizilay, Deniz; Topaloglu, Ali Kemal; Eren, Erdal; Ozen, Samim; Demirbilek, Huseyin; Abali, Saygin; Akin, Leyla; Eklioglu, Beray Selver; Kaba, Sultan; Anik, Ahmet; Bas, Serpil; Unuvar, Tolga; Saglam, Halil; Bolu, Semih; Ozgen, Tolga; Dogan, Durmus; Cakir, Esra Deniz; Sen, Yasar; Andiran, Nesibe; Cizmecioglu, Filiz; Evliyaoglu, Olcay; Karaguzel, Gulay; Pirgon, Ozgur; Catli, Gonul; Can, Hatice Dilek; Gurbuz, Fatih; Binay, Cigdem; Bas, Veysel Nijat; Saglam, Celal; Gul, Davut; Polat, Adem; Acikel, Cengizhan; Cinaz, PeyamiObjective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.Publication Open Access A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age(SPRINGER, 2020-07) DAĞÇINAR, ADNAN; Eltan, Mehmet; Alavanda, Ceren; Yavas Abali, Zehra; Ergenekon, Pinar; Yalindag Ozturk, Nilufer; Sakar, Mustafa; Dagcinar, Adnan; Kirkgoz, Tarik; Kaygusuz, Sare Betul; Gokdemir, Yasemin; Elcioglu, Huriye Nursel; Guran, Tulay; Bereket, Abdullah; Ata, Pinar; Turan, SerapRaine Syndrome (RS) is caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. Subperiosteal bone formation and generalized osteosclerosis are the most common radiological findings. Here we present a new case with RS. A 9-month-old male patient on a home-type ventilator was referred for hypophosphatemia. He was born with a weight of 3800 g to non-consanguineous parents. Prenatal ultrasound had demonstrated nasal bone agenesis. A large anterior fontanel, frontal bossing, exophthalmos, hypoplastic nose, high arched palate, low set ears, triangular mouth, and corneal opacification were detected on physical examination. Serial skeletal X-rays revealed diffuse osteosclerosis at birth which was gradually decreased by the age of 5 months with subperiosteal undermineralized bone formation and medullary space of long bone could be distinguishable with bone-within-a-bone appearance. At 9 months of age, hand X-ray revealed cupping of the ulna with loose radial bone margin with minimal fraying and osteopenia. Cranial computed tomography scan showed bilateral periventricular calcification and hydrocephalus in progress. The clinical, laboratory, and radiological examinations were consistent with RS. Molecular analyses revealed a compound heterozygous mutation in FAM20C gene (a known pathogenic mutation, c.1645C > T, p.Arg549Trp; and a novel c.863 + 5 G > C variant). The patient died due to respiratory failure at 17 months of age. This case allowed us to demonstrate natural progression of skeletal features in RS. Furthermore, we have described a novel FAM20C variant causing RS. Previous literature on RS is also reviewed.Publication Open Access Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features(SPRINGER, 2021-11-11) BEREKET, ABDULLAH; Eltan, Mehmet; Abali, Zehra Yavas; Turkyilmaz, Ayberk; Gokce, Ibrahim; Abali, Saygin; Alavanda, Ceren; Arman, Ahmet; Kirkgoz, Tarik; Guran, Tulay; Hatun, Sukru; Bereket, Abdullah; Turan, SerapBiallelic loss of function mutations in the CLDN16 gene cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and chronic kidney disease. Here we report two cases of FHHNC with diverse clinical presentations and hypercalcemia in one as a novel finding. Pt#1 initially presented with urinary tract infection and failure to thrive at 5.5 months of age to another center. Bilateral nephrocalcinosis, hypercalcemia (Ca: 12.2 mg/dl), elevated parathyroid hormone (PTH) level, and hypercalciuria were detected. Persistently elevated PTH with high/normal Ca levels led to subtotal-parathyroidectomy at the age of 2.5. However, PTH levels remained elevated with progressive deterioration in renal function. At 9-year-old, she was referred to us for evaluation of hyperparathyroidism and, hypomagnesemia together with hypercalciuria, elevated PTH with normal Ca levels, and medullary nephrocalcinosis were detected. Compound heterozygosity of CLDN16 variants (c.715G>A, p.G239R; and novel c.360C>A, p.C120*) confirmed the diagnosis. Pt#2 was a 10-month-old boy, admitted with irritability and urinary crystals. Hypocalcemia, hypophosphatemia, elevated PTH and ALP, low 25(OH)D levels, and radiographic findings of rickets were detected. However, additional findings of hypercalciuria and bilateral nephrocalcinosis were inconsistent with the nutritional rickets. Low/normal serum Mg levels suggested the diagnosis of FHHNC which was confirmed genetically as a homozygous missense (c.602G > A; p.G201E) variant in CLDN16. Yet, hypocalcemia and hypomagnesemia persisted in spite of treatment. In conclusion, FHHNC may present with diverse clinical features with mild hypomagnesemia leading to secondary hyperparathyroidism with changing Ca levels from low to high. Early and accurate clinical and molecular genetic diagnosis is important for proper management.Publication Open Access Osteopetrosis: Gene-based nosology and significance dysosteosclerosis(2022-11-16) DEMİRCİOĞLU, SERAP; Turan S.Dysosteosclerosis (DSS) refers to skeletal dysplasias that radiographically feature focal appendicular osteo- sclerosis with variable platyspondyly. Genetic heterogeneity is increasingly reported for the DSS phenotype and now involves mutations of SLC29A3, TNFRSF11A, TCIRG1, LRRK1, and CSF1R. Typical radiological findings are widened radiolucent long bones with thin cortices yet dense irregular metaphyses, flattened vertebral bodies, dense ribs, and multiple fractures. However, the radiographic features of DSS evolve, and the metaphyseal and/ or appendicular osteosclerosis variably fades with increasing patient age, likely due to some residual osteoclast function. Fractures are the principal presentation of DSS, and may even occur in infancy with SLC29A3-asso- ciated DSS. Cranial base sclerosis can lead to cranial nerve palsies such as optic atrophy, and may be the initial presentation, though not observed with SLC29A3-associated DSS. Gene-specific extra-skeletal features can be the main complication in some forms of DSS such as CSF1R- associated DSS. Further genetic heterogeneity is likely, especially for X-linked recessive DSS and cases currently with an unknown genetic defect. Distinguishing DSS can be challenging due to variable clinical and radiological features and an evolving phenotype. However, defining the DSS phenotype is important for predicting complications, prognosis, and instituting appropriate health surveillance and treatment. 1. Introduction Dysosteosclerosis (DSS) is regarded as a skeletal dysplasia (OMIM % 224,300) [1] and was first described in 1934 by Ellis [2] who described 2 brothers from consanguineous English parents and, considered it osteopetrosis (OPT). In 1968, Spranger and colleagues described the disease as a distinct entity [3]. Spranger described the radiological features in a 12-year-old boy as widened radiolucent long bones with thin cortices ends to the dense irregular metaphyses, flattened vertebral bodies, dense ribs, and multiple fractures [3]. DSS is categorized as an osteosclerotic disease, rather than a nonhomogeneous osteosclerosis (i. e. coexistence of radiolucent bones together with dense bones), to differentiate DSS from OPT. Nevertheless, DSS is classified as an OPT- related disorder by the International Skeletal Dysplasia Registry [4] in line with the first report of Ellis [2]. Clinical features of DSS are recur- rent fractures, short stature, failure of tooth eruption, and, sometimes optic atrophy and other cranial nerve palsies, developmental delay, and skin changes [2,3,5–11]. As radiological and clinical findings are vari- able (See below) making a diagnosis can be challenging. Clinical and radiological criteria for DSS are shown in Table 1. Since DSS mimics the clinical and radiological findings of OPT to a degree, candidate gene defects that compromise osteoclast function and/or osteoclastogenesis may be causal. In 2010, Whyte et al. reported an American girl of Turkish heritage with DSS, but with histological features that suggested this was an “osteoclast-poor” form of OPT with a skeletal resorption defect and absence of osteoclasts in bone biopsy [5]. In 2012, delineation of the genetic basis for DSS began with detecting compound heterozygous loss-of-function mutations (c.607 T > C, p. * Marmara University School of Medicine, Department of Paediatric Endocrinology and Diabetes, Fevzi Cakmak Mh. Muhsin Yazicioglu Cd. No 41. 34899, Ust- kaynarca/Pendik, Istanbul, Turkey. E-mail address: serap.turan@marmara.edu.tr. Contents lists available at ScienceDirect Bone journal homepage: www.elsevier.com/locate/bone https://doi.org/10.1016/j.bone.2022.116615 Received 3 July 2022; Received in revised form 9 November 2022; Accepted 12 November 2022Publication Open Access Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume(2022-03-23) ŞAHİN, BAHADIR; DEMİRCİOĞLU, SERAP; BEREKET, ABDULLAH; GÜRAN, TÜLAY; Arslan Ateş E., Eltan M., Sahin B., Gurpinar Tosun B., Seven Menevse T., Geckinli B. B., Greenfield A., Turan S., Bereket A., Güran T.Background: The human INHA gene encodes the inhibin subunit alpha protein, which is common to both inhibin A and B. The functional importance of inhibins in male sex development, sexual function, and reproduction remain largely unknown. Objective: We report for the first time two male siblings with homozygous INHA mutations. Methods: The medical files were examined for clinical, biochemical, and imaging data. Genetic analysis was performed using next-generation and Sanger sequencing methods. Results: Two brothers complained of gynecomastia, testicular pain, and had a history of hypospadias. Biochemistry revealed low serum testosterone, high gonadotropin and anti-Mullerian hormone, and very low/undetectable inhibin concentrations, where available. Both patients had azoospermia in the spermiogram. We have identified a homozygous 2 bp deletion (c.208_209delAG, R70Gfs*3) variant, which leads to a truncated INHA protein in both patients, and confirmed heterozygosity in the parents. The external genital development, pubertal onset and progression, reproductive functions, serum gonadotropins, and sex hormones of mother and father, who were heterozygous carriers of the identified mutation, were normal. Conclusion: Homozygosity for INHA mutations causes decreased prenatal and postnatal testosterone production and infertility in males, while the heterozygous female and male carriers of INHA mutations do not have any abnormality in sex development and reproduction.Publication Open Access Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development(2018-07) BEREKET, ABDULLAH; Baetens, Dorien; Güran, Tülay; Mendonca, Berenice B.; Gomes, Nathalia L.; De Cauwer, Lode; Peelman, Frank; Verdin, Hannah; Vuylsteke, Marnik; Van der Linden, Malaïka; Stoop, Hans; Looijenga, Leendert H.; De Bosscher, Karolien; Cools, Martine; De Baere, Elfride; Atay, Zeynep; Bereket, Abdullah; de Krijger, Ronald R.; Preter, Katleen de; Domenice, Sorahia; Turan, SerapPublication Open Access Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement(NATURE RESEARCH, 2018-08) DEMİRCİOĞLU, SERAP; Mantovani, Giovanna; Bastepe, Murat; Monk, David; de Sanctis, Luisa; Thiele, Susanne; Usardi, Alessia; Ahmed, S. Faisal; Bufo, Roberto; Choplin, Timothee; De Filippo, Gianpaolo; Devernois, Guillemette; Eggermann, Thomas; Elli, Francesca M.; Freson, Kathleen; Garcia Ramirez, Aurora; Germain-Lee, Emily L.; Groussin, Lionel; Hamdy, Neveen; Hanna, Patrick; Hiort, Olaf; Juppner, Harald; Kamenicky, Peter; Knight, Nina; Kottler, Marie-Laure; Le Norcy, Elvire; Lecumberri, Beatriz; Levine, Michael A.; Makitie, Outi; Martin, Regina; Angel Martos-Moreno, Gabriel; Minagawa, Masanori; Murray, Philip; Pereda, Arrate; Pignolo, Robert; Rejnmark, Lars; Rodado, Rebecca; Rothenbuhler, Anya; Saraff, Vrinda; Shoemaker, Ashley H.; Shore, Eileen M.; Silve, Caroline; Turan, Serap; Woods, Philip; Zillikens, M. Carola; Perez de Nanclares, Guiomar; Linglart, AgnesThis Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency, hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.Publication Open Access A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B(2022-04-01) BEREKET, ABDULLAH; DEMİRCİOĞLU, SERAP; GÜRAN, TÜLAY; Campbell D., Reyes M., Kaygusuz S. B., Abalı S., Güran T., Bereket A., Kagami M., Turan S., Jüppner H.© 2022Individuals affected by pseudohypoparathyroidism type 1A (PHP1A) display hyperphosphatemia and hypocalcemia despite elevated PTH levels, as well as features of Albright Hereditary Osteodystrophy (AHO). PHP1A is caused by variants involving the maternal GNAS exons 1–13 encoding the stimulatory G protein α-subunit (Gsα). MLPA and aCGH analysis led in a male PHP1A patient to identification of a de novo 1284-bp deletion involving GNAS exon 1. This novel variant overlaps with a previously identified 1438-bp deletion in another PHP1A patient (ref. Li et al. (2020) [13], patient 2) that extends from the exon 1 promoter into the up-stream intronic region. This latter deletion is associated with reduced methylation at GNAS exon A/B, i.e. the differentially methylated region (DMR) that is demethylated in most pseudohypoparathyroidism type 1B (PHP1B) patients. In contrast, genomic DNA from our patient revealed no evidence for an epigenetic GNAS defect as determined by MS-MLPA and pyrosequencing. These findings thus reduce the region, which, in addition to other nucleotide sequences telomeric of exon A/B, may undergo histone modifications or interacts with transcription factors and possibly as-yet unknown proteins that are required for establishing the maternal methylation imprints at this site. Taken together, nucleotide deletions or changes within an approximately 1300-bp region telomeric of exon A/B could be a cause of PHP1B variants with complete or incomplete loss-of-methylation at the exon A/B DMR. In addition, when investigating patients with suspected PHP1A, MLPA should be considered to search for structural abnormalities within this difficult to analyze genomic region comprising GNAS exon 1.Publication Open Access Maternal Thyroid Dysfunction and Neonatal Thyroid Problems(HINDAWI LTD, 2013) BEREKET, ABDULLAH; Ozdemir, Hulya; Akman, Ipek; Coskun, Senay; Demirel, Utku; Turan, Serap; Bereket, Abdullah; Bilgen, Hulya; Ozek, ErenAim. To investigate obstetric features of pregnant women with thyroid disorders and thyroid function tests of their newborn infants. Methods. Women with hypothyroidism and having anti-thyroglobulin (ATG) and anti-thyroid peroxidase (anti-TPO) antibodies were assigned as group I, women with hypothyroidism who did not have autoantibodies were assigned as group II, and women without thyroid problems were assigned as group III. Results. Pregnant women with autoimmune hypothyroidism (group I) had more preterm delivery and their babies needed more frequent neonatal intensive care unit (NICU) admission. In group I, one infant was diagnosed with compensated hypothyroidism and one infant had transient hyperthyrotropinemia. Five infants (23.8%) in group II had thyroid-stimulating hormone (TSH) levels >20 mIU/mL. Only two of them had TSH level >7 mIU/L at the 3rd postnatal week, and all had normal free T4 (FT4). Median maternal TSH level of these five infants with TSH >20 mIU/mL was 6.6 mIU/mL. In group III, six infants (6.5%) had TSH levels above >20 mIU/mL at the 1st postnatal week. Conclusion. Infants of mothers with thyroid problems are more likely to have elevated TSH and higher recall rate on neonatal thyroid screening. Women with thyroid disorders and their newborn infants should be followed closely for both obstetrical problems and for thyroid dysfunction.