Weight and height percentiles for 0-84- month-old children in Kayseri--a central Anatolian city in Turkey.

abstract：:22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2. Positive findings...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Eryılmaz SK,Baş F,Satan A,Darendeliler F,Bundak R,Günöz H,Saka N

更新日期：2009-01-01 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:Recently, scientific interest has focused on the association between osteocalcin, which originates from the skeletal system, and glucose metabolism. Although the association between lipid metabolism, adiponectin, and metabolic syndrome is well known, that between obesity, insulin resistance, and osteocalcin h...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Abseyi N,Şıklar Z,Berberoğlu M,Hacıhamdioğlu B,Savaş Erdeve Ş,Öçal G

更新日期：2012-12-01 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：:Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with short-limb dwarfism. Two types distinguished with their radiological characteristics have been defined clinically. The femur is curved in type 1, while it is straight in type 2. TD is known to be due to a mutation in the fibroblast growth factor ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Gülaşı S,Atıcı A,Çelik Y

更新日期：2015-03-01 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: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：:3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiograp...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Güven A,Cebeci AN

更新日期：2011-01-01 00:00:00

abstract：OBJECTIVE:Pubertal gynecomastia (PG) occurs in up to 65% of adolescent boys. In this study, we investigated the relationship between the ages at which PG and peak height velocity occur in pubertal boys. METHODS:This was a prospective study that was designed to detect PG within three months of its emergence. We examine...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Limony Y,Friger M,Hochberg Z

更新日期：2013-09-10 00:00:00

abstract：:Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we present a patient diag...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Güran T,Değirmenci S,Bulut İK,Say A,Riepe FG,Güran Ö

更新日期：2011-01-01 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：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: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：OBJECTIVE:In adults, it was shown that obesity and insulin resistance affect low-density lipoprotein (LDL) particle size and small dense (sd) LDL is associated with cardiovascular diseases. In this study, we investigated the effect of obesity and insulin resistance on LDL particle size. METHODS:Twenty-six obese childr...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Taşcılar ME,Özgen T,Cihan M,Abacı A,Yeşilkaya E,Eker I,Serdar M

更新日期：2010-01-01 00:00:00

abstract：:Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycemia in neonates. Diazoxide is the first-line drug in its treatment, but the more severe cases are usually diazoxide-resistant. Recessive ABCC8 and KCNJ11 mutations are responsible for most (82%) of the severe diazoxide-unresponsive CHI. Ora...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Khawash P,Hussain K,Flanagan SE,Chatterjee S,Basak D

更新日期：2015-06-01 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：: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：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 enzyme 17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) catalyzes the biosynthesis of testosterone from Δ4-androstenedione, and plays an important role in the final steps of androgen synthesis. 17β-HSD3 deficiency originates from mutations in the HSD17B gene, causing an autosomal recessive 46, XY sex developmen...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Çiftci N,Kayaş L,Çamtosun E,Akıncı A

更新日期：2021-01-04 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：Objective:No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment r...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Demir K,Döneray H,Kara C,Atay Z,Çetinkaya S,Çayır A,Anık A,Eren E,Uçaktürk A,Can Yılmaz G,Törel Ergür A,Kendirci M,Aycan Z,Bereket A,Aydın M,Orbak Z,Özkan B

更新日期：2019-05-28 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：OBJECTIVE:Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of GH or lack of GH action. Mutations in the gene encoding for GH-releasing hormone receptor (GHRHR) have been detected in patients with IGHD type IB. However, genetic defe...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Arman A,Dündar BN,Çetinkaya E,Erzaim N,Büyükgebiz A

更新日期：2014-12-01 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：: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:The aim of this study was to examine the vitamin D status of children and to determine the factors influencing serum 25-hydroxyvitamin D [25(OH)D] concentration in Turkish infants living in İzmir. METHODS:In this study, we examined the serum 25(OH)D levels of 100 infants aged 1 to 24 months and of 22 mothers...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Gülez P,Korkmaz HA,Özkök D,Can D,Özkan B

更新日期：2015-12-01 00:00:00

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: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：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：: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