Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

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：: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: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: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：: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：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：: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: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：: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：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：: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：: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：: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：: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：: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：: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：: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: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：: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：: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：:Neurological complications of diabetic ketoacidosis are considered to be a serious clinical problem. The most common complication is cerebral edema. However, these neurological complications also include less common entities such as ischemic or hemorrhagic stroke, cerebral venous and sinus thrombosis or peripheral neu...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Baszyńska-Wilk M,Wysocka-Mincewicz M,Świercz A,Świderska J,Marszał M,Szalecki M

更新日期：2018-07-31 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:To find out the diagnostic role of kisspeptin and neurokinin B in idiopathic central precocious puberty (ICPP) and premature thelarche (PT). METHODS:The girls who presented with early breast development before the age of 8 years were evaluated. Patients with intracranial pathologies were excluded. Basal and ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Parlak M,Türkkahraman D,Ellidağ HY,Çelmeli G,Parlak AE,Yılmaz N

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：: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：:Alström syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and non-insulin-dependent diabetes mellitus. Affected individuals have normal birth weight, but growth deceleration starts at about 8-10 years of age. In patients with the dis...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Pirgon Ö,Atabek ME,Tanju IA

更新日期：2009-01-01 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：: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：: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: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