Monogenic diabetes secondary to congenital lipodystrophy in a 14-year-old Yemeni girl.

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: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:To determine exposure to endocrine-disrupting phthalates in preterm infants in neonatal intensive care units (NICU). METHODS:Urine samples (n=151) from 36 preterm infants (<32 weeks of gestation and/or <1500 g of birth weight) were collected on the first 3 days of admission to the NICU and biweekly thereafte...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Demirel A,Çoban A,Yıldırım Ş,Doğan C,Sancı R,İnce Z

更新日期：2016-09-01 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：: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: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：: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：: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: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: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：: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：: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：: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: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：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：: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：: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: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：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：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：: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: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：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：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: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:To produce weight for length/height (WLH) percentiles to be used for the screening of growth and assessment of failure to thrive in infancy and early childhood. METHODS:The data (2009-2010) of the Anthropometry of Turkish Children aged 0-6 years (ATCA-06) study were used. A cross-sectional study was designed...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Mazıcıoğlu MM,Demirtaş T,Çcek B,Oztürk A,Kurtoğlu S,Üstünbaş HB

更新日期：2013-01-01 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：: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：: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：: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