A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

abstract：:Although pregnancy and abortion rates have declined in adolescents, unintended pregnancies remain unacceptably high in this age group. The use of highly effective methods of contraception is one of the pillars of unintended pregnancy prevention and requires a shared decision making process within a rights based framew...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Todd N,Black A

更新日期：2020-02-06 00:00:00

abstract：OBJECTIVE:In this study, we aimed to investigate the association of W64R polymorphism of the β3-adrenergic receptor gene (β-3AR) with childhood obesity and related pathologies. METHODS:β-3AR gene W64R genotyping was carried out in 251 children aged 6-18 years. Of these subjects, 130 were obese (62 boys) and 121 were n...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Verdi H,Tulgar Kınık S,Yılmaz Yalçın Y,Muratoğlu Şahin N,Yazıcı AC,Ataç FB

更新日期：2015-03-01 00:00:00

abstract：Objective:Gender assignment in infants and children with disorders of sex development (DSD) is a stressful situation for both patient/families and medical professionals. Methods:The purpose of this study was to investigate the results of gender assignment recommendations in children with DSD in our clinic from 1999 th...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Gürbüz F,Alkan M,Çelik G,Bişgin A,Çekin N,Ünal İ,Topaloğlu AK,Zorludemir Ü,Avcı A,Yüksel B

更新日期：2020-11-25 00:00:00

abstract：OBJECTIVE:The aim of this study was to present weight and height percentiles for Turkish children aged 0-84 months residing in Kayseri, Turkey and to compare these findings with national references and international standards. METHODS:We used the data from the Anthropometry of Turkish Children aged 0-6 years (ATCA-06)...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Altunay C,Kondolot M,Poyrazoğlu S,Öztürk A,Mazıcıoğlu MM,Kurtoğlu S

更新日期：2011-01-01 00:00:00

abstract：:Several studies have shown that small for gestational age (SGA) babies have a different hormonal profile than those born with a birth weight appropriate for gestational age (AGA). Thyroid hormones play an important role in growth and neurocognitive development. Only few studies analyzed the concentrations of thyroid-s...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Franco B,Laura F,Sara N,Salvatore G

更新日期：2013-01-01 00:00:00

abstract：OBJECTIVE:While acute alterations in leptin, insulin, cortisol and growth hormone (GH) levels have been reported in children following weight change interventions, little is known about natural hormonal changes as children grow and how these changes are affected by unprovoked weight status changes. The purpose of this ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Ondrak KS,McMurray RG,Hackney AC,Harrell JS

更新日期：2011-01-01 00:00:00

abstract：Objective:The aim of this study was to assess the association between serum uric acid concentration (SUAC) and the parameters of the metabolic syndrome (MetS) and insulin resistance (IR). The secondary aim was to evaluate whether hyperuricemia is associated with renal injury and cardiovascular risk in obese (OB) and ov...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Özalp Kızılay D,Şen S,Ersoy B

更新日期：2019-09-03 00:00:00

abstract：OBJECTIVE:This study aimed to measure paraoxonase/arylesterase activities and to evaluate the total oxidant and antioxidant capacities in obese children and in children with metabolic syndrome (MetS). METHODS:A total of 151 children of comparable ages (13.23±1.96 years, 13.45±1.85 years and 13.95±1.31 years) were enro...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Eren E,Abuhandan M,Solmaz A,Taşkın A

更新日期：2014-09-01 00:00:00

abstract：Objective:Turner syndrome (TS) is one of the most common chromosomal abnormalities and an important cause of short stature and infertility due to ovarian failure in females. The aim was to evaluate the knowledge of TS among physicians and parents of children with TS and to enhance awareness about this subject. Methods...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Eroğlu Filibeli B,Havare N,Erbak Yılmaz H,Yıldırım JG,Çatlı G,Dündar BN

更新日期：2020-03-19 00:00:00

abstract：:Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors. The clinical presentation of pediatric PPGLs is highly variable. In cases with pheochromocytoma (PCC), excess catecholamine may stimulate myocytes and cause structural changes, leading to life-threatening complications ranging from stress car...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Uçaktürk SA,Mengen E,Azak E,Çetin İİ,Kocaay P,Şenel E

更新日期：2020-06-03 00:00:00

abstract：OBJECTIVE:To establish local normative data of thyroid volume assessed by ultrasonography in subjects aged 0-55 years living in İstanbul, 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 t...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Aydıner Ö,Karakoç Aydıner E,Akpınar İ,Turan S,Bereket A

更新日期：2015-06-01 00:00:00

abstract：Objective:Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Methods:Here we present nationwide initial and follow-up data on HR. Results:From...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Şıklar Z,Turan S,Bereket A,Baş F,Güran T,Akberzade A,Abacı A,Demir K,Böber E,Özbek MN,Kara C,Poyrazoğlu Ş,Aydın M,Kardelen A,Tarım Ö,Eren E,Hatipoğlu N,Büyükinan M,Akyürek N,Çetinkaya S,Bayramoğlu E,Selver Eklio

更新日期：2020-06-03 00:00:00

abstract：BACKGROUND:Insulin glargine provides effective glycemic control when administered at bedtime in adults. OBJECTIVE:This study aims to investigate whether insulin glargine is equally effective if administered in the morning or at bedtime in combination with preprandial anologue insulin. METHODS:Twenty-eight patients th...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Şimşek DG,Yıldız B,Asar G,Darcan S

更新日期：2008-01-01 00:00:00

abstract：:Congenital hyperinsulinism (CHI) is the most common cause of severe, persistent hypoglycemia in neonates and infants. Current available treatment is subtotal pancreatectomy if the patient does not respond to medical treatment but some of the patients still experience severe hypoglycemia after the surgery. Sirolimus, a...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Chen Q,Chen Y,Wang X,Yang H,Zhang Y,Liu X,Yan Y,Wei H

更新日期：2020-06-02 00:00:00

abstract：:A 14-year-old female from Yemen presented with intense abdominal pain and headache. She was born at term to distant cousins, developmentally delayed and significantly dysmorphic. Four years ago, she was diagnosed with diabetes mellitus and undiagnosed hepatic, cardiac, genetic, neurologic, endocrine, musculoskeletal, ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Roth T,Nair S,Kumar A

更新日期：2010-01-01 00:00:00

abstract：:Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal bridge, and growth retardation. A 5-year-old female patient was ref...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Tuhan H,Ceylaner S,Nalbantoğlu Ö,Acar S,Abacı A,Böber E,Demir K

更新日期：2017-12-15 00:00:00

abstract：OBJECTIVE:Obesity is known to affect thyroid functions. Recently, waist-height ratio (WHtR) has been considered as a useful marker of subclinical hypothyroidism in obese cases, but its relation with thyroid autoimmunity still remains unclear. We evaluated the effect of body fat mass, WHtR, and metabolic parameters on t...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Ozcabi B,Tarcin G,Sengenc E,Tahmiscioglu Bucak F,Ercan O,Bolayirli IM,Evliyaoglu O

更新日期：2020-10-02 00:00:00

abstract：:Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for many hematological disorders, primary immunodeficiencies, and metabolic disorders. Thyroid dysfunction is one of the frequently seen complications of HSCT. However, hyperthyroidism due to Graves' disease, autoimmune thyroiditis, and thyr...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Sağ E,Gönç N,Alikaşifoğlu A,Kuşkonmaz B,Uçkan D,Özön A,Kandemir N

更新日期：2015-12-01 00:00:00

abstract：:Vitamin D intoxication usually occurs as a result of inappropriate use of vitamin D preparations and can lead to life-threatening hypercalcemia. It is also known that there are a number of physicians who prescribe vitamin D supplements for various clinical conditions, such as poor appetite and failure to thrive. While...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Anık A,Çatlı G,Abacı A,Dizdarer C,Böber E

更新日期：2013-01-01 00:00:00

abstract：OBJECTIVE:Individuals living at high altitudes are reported to have lower stature and also a smaller chest size in relation to their stature. Altitude-related hypobaric hypoxia is considered to be the major cause of these alterations in growth, but adverse socioeconomic and/or other environmental conditions may also ha...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Malkoç I,Mazıcıoğlu MM,Özkan B,Kondolot M,Kurtoğlu S,Yeşilyurt H

更新日期：2012-03-01 00:00:00

abstract：:Lipoid proteinosis (LP) is a rare disorder and it can affect every organ in the body. The clinical manifestations of LP may vary considerably between affected individuals. Short stature is reported in patients with LP however the underlying etiology is not clear. Short stature may be due to endocrine dysfunction cause...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Poyrazoğlu Ş,Günöz H,Darendeliler F

更新日期：2008-01-01 00:00:00

abstract：OBJECTIVE:This study aimed (a) to investigate the relationship between the degree of obesity and serum adiponectin, tumor necrosis factor (TNF)-α, leptin, insulin levels and the lipid profile; (b) to clarify the relationship between insulin resistance/glucose tolerance and adipocytokine levels; and (c) to investigate t...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Alikaşifoğlu A,Gönç N,Özön ZA,Sen Y,Kandemir N

更新日期：2009-01-01 00:00:00

abstract：OBJECTIVE:Increasing evidence suggests that T helper (Th) cells play a significant role in the pathogenesis of hypertension. The aim of this study was to evaluate the effect of obesity and anti-hypertensive treatment on urinary Th1 chemokines. METHODS:The study groups consisted of three types of patients: hypertensive...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Övünç Hacıhamdioğlu D,Zeybek C,Gök F,Pekel A,Muşabak U

更新日期：2015-09-01 00:00:00

abstract：Objective:5-Hydroxymethylfurfural (HMF) is formed when sugars are heated in the presence of amino acids. HMF is naturally present in many foods. To investigate the toxic effects of HMF on the reproductive system of peripubertal rats. Methods:In the study, 24 immature female Wistar rat were divided into three groups: c...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Elmaoğulları S,Kadan E,Anadol E,Gökçeoğlu A,Çetinkaya S,Yarım GF,Uçaktürk SA,Aycan Z

更新日期：2020-03-19 00:00:00

abstract：:Congenital central hypothyroidism (CCH) is a very rare disease. Alterations in pituitary development genes as well as mutations of immunoglobulin superfamily member 1 and transducin β-like protein 1 can result in CCH and multiple pituitary hormone deficiencies. However, mutations of the thyrotropin-releasing hormone r...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Özhan B,Boz Anlaş Ö,Sarıkepe B,Albuz B,Semerci Gündüz N

更新日期：2017-09-01 00:00:00

abstract：:In 2011, the Department of Health (England) will publish revised You're Welcome criteria. This is the first comprehensive attempt to define good quality health services for young people (11-19 years) and provide a self-assessment tool applicable to all adolescent health services. It builds on a growing understanding o...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Hargreaves DS

更新日期：2011-01-01 00:00:00

abstract：:Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by a temporary isolated elevation of serum alkaline phosphatase activity (ALP), predominantly its bone or liver isoform, in either sick or healthy children under 5 years of age. Return to normal ALP levels usually occurs within four mo...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Kutilek S,Cervickova B,Bebova P,Kmonickova M,Nemec V

更新日期：2012-09-01 00:00:00

abstract：OBJECTIVE:Robinow syndrome (RS) is an extremely rare genetic disorder characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. Mutations in the ROR2 gene cause autosomal recessive RS (RRS) whereas mutations in WNT5A are responsible for the aut...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Tamhankar PM,Vasudevan L,Kondurkar S,Yashaswini K,Agarwalla SK,Nair M,Ramkumar TV,Chaubal N,Chennuri VS

更新日期：2014-01-01 00:00:00

abstract：OBJECTIVE:To evaluate the use of the 13C-glucose breath test (13C-GBT) for insulin resistance (IR) detection in adolescents through comparison with fasting and post-glucose stimulus surrogates. METHODS:One hundred thirty-three adolescents aged between 10 and 16 years received an oral glucose load of 1.75 g per kg of b...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Maldonado-Hernández J,Martínez-Basila A,Salas-Fernández A,Navarro-Betancourt JR,Piña-Aguero MI,Bernabe-García M

更新日期：2016-12-01 00:00:00

abstract：Objective:Soluble CD40 ligand (sCD40L) is elevated in various autoimmune disorders, which may have diagnostic and therapeutic implications. The aims of the current study were to evaluate serum sCD40L concentrations in children with newly diagnosed Graves’ disease (GD) and to correlate its levels with patients’ clinical...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Metwalley KA,Farghaly HS,Raafat DM,Ismail AM,Saied GM

更新日期：2020-06-03 00:00:00