A case of thanatophoric dysplasia type 2: a novel mutation.

abstract：:Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS has been associated with intellectual disability (ID), developmental delay (DD), obesity, epilepsy, typical facial features and anomalies of fingers and toes. Endocrinological phenotypes and outcome of treatment...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Zhang X,Fan Y,Liu X,Zhu MA,Sun Y,Yan H,He Y,Ye X,Gu X,Yu Y

更新日期：2019-11-22 00:00:00

abstract：:Infantile hepatic hemangiomas (IHH), particularly of the diffuse subtype can, in severe cases, be associated with hepatic and cardiac failure, compartment syndrome and consumptive hypothyroidism. Early recognition and treatment of these pathologies is paramount in order to minimise the risk of long-term sequelae. We r...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Campbell V,Beckett R,Abid N,Hoey S

更新日期：2018-07-31 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:Iodine deficiency and excess are the most important factors that affect screening and recall rates of congenital hypothyroidism. The purpose of this study was to investigate the urinary iodine status in newborns and their mothers and its effects on neonatal thyroid-stimulating hormone (TSH) levels in a mildly...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Yaman AK,Demirel F,Ermiş B,Pişkin IE

更新日期：2013-01-01 00:00:00

abstract：:Endocrine disruptors are substances commonly encountered in every setting and condition in the modern world. It is virtually impossible to avoid the contact with these chemical compounds in our daily life. Molecules defined as endocrine disruptors constitute an extremely heterogeneous group and include synthetic chemi...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Unüvar T,Büyükgebiz A

更新日期：2012-06-01 00:00:00

abstract：:Thiamine-responsive megaloblastic anemia (TRMA) is a clinical triad characterized by megaloblastic anemia, non-autoimmune diabetes mellitus, and sensory-neural hearing loss. Mutations in the thiamine transporter gene, solute carrier family 19, member 2 (SLC19A2), have been associated with TRMA. Three pediatric patient...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Ghaemi N,Ghahraman M,Abbaszadegan MR,Baradaran-Heravi A,Vakili R

更新日期：2013-09-10 00:00:00

abstract：:Hypopituitarism is defined as a decreased release of hypophyseal hormones, which may be caused by disease of the pituitary gland disease or hypothalamus. The clinical findings of neonatal hypopituitarism depend on the causes and on presence and extent of hormonal deficiency. Patients may be asymptomatic or may demonst...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Kurtoğlu S,Özdemir A,Hatipoğlu N

更新日期：2019-02-20 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：: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：:Early detection of abnormal growth, identification of the underlying cause, and appropriate treatment of the medical condition is an important issue for children with short stature. Growth hormone (GH) therapy is widely used in GH-deficient children and also in non-GH-deficient short stature cases who have findings co...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Yavaş Abalı Z,Darendeliler F,Neyzi O

更新日期：2016-12-01 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：: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:To estimate the relationship between cord blood bisphenol A (BPA) levels and anogenital measurements in healthy newborns. METHODS:Pregnancy and birth history, together with body mass and length data, anogenital measurements, penile measurements and cord blood samples were obtained from healthy newborns. Cord...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Mammadov E,Uncu M,Dalkan C

更新日期：2018-03-01 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:Bi-allelic mutations in wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized with non-autoimmune diabetes mellitus (DM), optic atrophy (OA), diabetes insipidus (DI), sensorineural deafness (SND), urinary tract abnormalities, and neuropsychiatric disorders. We evaluated patients presen...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Sherif M,Demirbilek H,Cayir A,Tahir S,Cavdarli B,Demiral M,Cebeci AN,Vuralli D,Rahman SA,Unal E,Buyukyilmaz G,Baran RT,Ozbek MN,Hussain K

更新日期：2020-09-17 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:A close diabetes team-patient relationship is required for establishing satisfactory metabolic control. The purpose of this study was to investigate the effect of a telehealth system on diabetes control. Methods:The study was carried out between June 2015 and January 2016 at the Gazi University Faculty of Me...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Döğer E,Bozbulut R,Soysal Acar AŞ,Ercan Ş,Kılınç Uğurlu A,Akbaş ED,Bideci A,Çamurdan O,Cinaz P

更新日期：2019-02-20 00:00:00

abstract：:The 46,XX ovotesticular disorder of sex development (DSD) is rarely observed in humans. This disorder is generally described as ambiguous genitalia with the presence of ovarian and testicular tissues in different gonads or in the same gonad. Almost no subjects with 46,XX ovotesticular DSD have sex-determining region o...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Mengen E,Kayhan G,Kocaay P,Uçaktürk SA

更新日期：2020-09-02 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

abstract：OBJECTIVE:Although vitamin D levels are not routinely monitored in pediatric fracture patients, identification of children with a vitamin D deficiency may be clinically relevant because of the potential role of vitamin D in fracture healing. This study aimed to determine the prevalence of vitamin D deficiency in a pedi...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Gorter EA,Oostdijk W,Felius A,Krijnen P,Schipper IB

更新日期：2016-12-01 00:00:00

abstract：OBJECTIVE:Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS pati...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Şıklar Z,Genens M,Poyrazoğlu Ş,Baş F,Darendeliler F,Bundak R,Aycan Z,Savaş Erdeve Ş,Çetinkaya S,Güven A,Abalı S,Atay Z,Turan S,Kara C,Can Yılmaz G,Akyürek N,Abacı A,Çelmeli G,Sarı E,Bolu S,Korkmaz HA,Şimşek E,

更新日期：2016-09-01 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：: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：:Peutz-Jeghers syndrome (PJS) is inherited as an autosomal dominant trait characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of neoplasm. Large-cell calcifying Sertoli cell tumor (LCCSCT) is a kind of sex cord-stromal tumor which may co-exist with PJS and ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Koç Yekedüz M,Şıklar Z,Burgu B,Kuloğlu Z,Kocaay P,Çamtosun E,İsakoca M,Kansu A,Soygür T,Berberoğlu M

更新日期：2017-06-01 00:00:00

abstract：:Primary adrenal insufficiency (PAI) is a heterogeneous group of disorders characterized by an impaired production of cortisol and other steroid hormones by the adrenal cortex. Most of the causes of PAI in childhood are inherited and monogenic in origin and are associated with significant morbidity and mortality whenev...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Güran T

更新日期：2017-12-30 00:00:00

abstract：:Most steroid disorders of the adrenal cortex come to clinical attention in childhood and in order to investigate these problems, there are many challenges to the laboratory which need to be appreciated to a certain extent by clinicians. The analysis of sex steroids in biological fluids from neonates, over adrenarche a...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Honour JW

更新日期：2010-01-01 00:00:00

abstract：OBJECTIVE:Thyroid abnormalities are common in obese children. The aim of the present study was to examine the prevalence of subclinical hypothyroidism (SH) and to determine how circulating thyroid hormone concentrations correlate with anthropometrics in Danish lean and obese children and adolescents. METHODS:In this c...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Dahl M,Ohrt JD,Fonvig CE,Kloppenborg JT,Pedersen O,Hansen T,Holm JC

更新日期：2017-03-01 00:00:00

abstract：Objective:Doses of gonadotropin releasing hormone (GnRH) analogues used to treat idiopathic central precocious puberty (iCPP) vary among clinicians. Study aims were to evaluate the efficacy of a monthly 3.75 mg dose of leuprolide acetate (LA) to suppress the hypothalamo-pituitary-gonadal (HPG) axis in girls with iCPP a...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Vurallı D,Alikaşifoğlu A,İyigün İ,Canoruç D,Ozon A,Gönç N,Kandemir N

更新日期：2020-03-19 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:To explore the effects of maternal high-fat (HF) diet-induced obesity on fetal growth and the expression of placental nutrient transporters. METHODS:Maternal obesity was established in rats by 8 weeks of pre-pregnancy fed HF diet, while rats in the control group were fed normal (CON) diet. Diet-induced obesi...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Ye K,Li L,Zhang D,Li Y,Wang HQ,Lai HL,Hu CL

更新日期：2017-12-15 00:00:00