Subclinical Hypothyroidism in Danish Lean and Obese Children and Adolescents.

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：: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：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: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：:Prevalence of hyperprolactinemia in children with subclinical hypothyroidism (ScH) is not known. This study aimed to determine the occurrence and predictors of hyperprolactinemia in euthyroid children and in children with ScH and overt primary hypothyroidism (OPH). Serum prolactin levels were estimated in consecutive ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Sharma N,Dutta D,Sharma LK

更新日期：2017-12-15 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: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：: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：: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: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：:Autoimmune polyglandular syndrome (APS) is a disorder which is associated with multiple endocrine gland insufficiency and also with non-endocrine manifestations. The pathophysiology of APS is poorly understood, but the hallmark evidence of APS is development of autoantibodies against multiple endocrine and non-endocri...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Büyükçelik M,Keskin M,Keskin Ö,Bay A,Kılıç BD,Kor Y,Kılınç MA,Balat A

更新日期：2014-01-01 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：: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：OBJECTIVE:To explore, by conducting a meta-analysis, whether gestational impaired glucose tolerance (IGT) is an independent predictor of neonatal large for gestational age (LGA) or not. METHODS:Medline, Embase, and Cochrane Library databases were searched to identify published epidemiological studies (cohort and case-...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Wang HQ,Lai HL,Li Y,Liu QF,Hu S,Li L

更新日期：2016-09-01 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: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：: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：:Congenital hypothyroidism (CH) occurs with a prevalence of approximately 1:4000 live births. Defects of thyroid hormone synthesis account for 15-20% of these cases. Thyroid peroxidase (TPO) gene is the most common cause for dyshormonogenesis. So far, more than 60 mutations in the TPO gene have been described, resultin...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Cangül H,Demir K,Babayiğit HÖ,Abacı A,Böber E

更新日期：2015-09-01 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：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：: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：OBJECTIVE:Stosstherapy has been used since early 19th century for treating nutritional rickets. However, there are no clear cut guidelines for the biochemical monitoring of this treatment. Repeated blood tests at short intervals increase the cost of therapy and noncompliance. METHODS:A prospective study was conducted ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Chatterjee D,Swamy MK,Gupta V,Sharma V,Sharma A,Chatterjee K

更新日期：2017-03-01 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：: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：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：: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：:Our objective is to further expand the spectrum of clinical characteristics of the IGSF1 deficiency syndrome in affected males, which so far includes congenital central hypothyroidism, disharmonious pubertal development (normally timed testicular growth, but delayed rise of serum testosterone), macroorchidism, increas...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Ghanny S,Zidell A,Pedro H,Joustra SD,Losekoot M,Wit JM,Aisenberg J

更新日期：2020-10-13 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: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: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