Atypical Presentation of Hashimoto's Disease in an Adolescent: Thyroid-Associated Ophthalmopathy.

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：: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：: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: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：: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：: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：: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：: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：: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：: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：OBJECTIVE:The hypothalamus plays a crucial role in the regulation of feeding behavior. The anorexigenic neuropeptide alpha-melanocyte-stimulating hormone (α-MSH) and the orexigenic neuropeptide agouti-related protein (AgRP) are among the major peptides produced in the hypothalamus. This study investigated the plasma co...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Vehapoğlu A,Türkmen S,Terzioğlu Ş

更新日期：2016-03-05 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：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：: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：: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: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：: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：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: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

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：:Recent studies have shown that small for gestational age (SGA) term infants undergo catch-up growth during infancy but there is limited studies on early growth outcomes of extreme premature SGA infants. The aim of this study was to compare factors associated during birth in extremely premature infants less than 28 wee...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Ng SM,Pintus D,Turner MA

更新日期：2019-02-20 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: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: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：:Nutrition plays a fundamental role in determining the growth of individuals. An appropriate growth progression is considered a harbinger of adequate nutrient intake and good health. On the other hand growth deceleration with or without short stature may indicate inadequate nutrition, even when there is no body weight ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Lifshitz F

更新日期：2009-01-01 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：: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:Papillary thyroid cancer (PTC) may behave differently in prepubertal children as compared to pubertal children and adults. BRAF gene activating mutations may associate with PTC by creating aberrant activation. We aimed to evaluate the clinicopathological characteristics of PTC patients with emphasis on the pu...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Poyrazoğlu Ş,Bundak R,Baş F,Yeğen G,Şanlı Y,Darendeliler F

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：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