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：:Mutations in the insulin receptor (INSR) gene are associated with insulin resistance and hyperglycaemia. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycaemia (HH) have been described in adults and children (more than 3 years of age) but not in the neonatal period. Family 1: ...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Sethi A,Foulds N,Ehtisham S,Ahmed SH,Houghton J,Colclough K,Didi M,Flanagan SE,Senniappan S

更新日期：2020-11-25 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：: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: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: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：: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: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: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：: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：: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: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:To determine the prevalence of obesity and metabolic syndrome (MetS) in children and adolescents with type 1 diabetes (T1D) and to compare the widely accepted and used diagnostic criteria for MetS established by the International Diabetes Federation (IDF), World Health Organisation (WHO) and National Choleste...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Yayıcı Köken Ö,Kara C,Can Yılmaz G,Aydın HM

更新日期：2020-03-19 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：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：: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：: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: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: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：: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：: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: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：: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：:Infantile hepatic hemangiomas (IHH), particularly of the diffuse subtype can, in severe cases, be associated with hepatic and cardiac failure, compartment syndrome and consumptive hypothyroidism. Early recognition and treatment of these pathologies is paramount in order to minimise the risk of long-term sequelae. We r...

journal_title：Journal of clinical research in pediatric endocrinology

authors： Campbell V,Beckett R,Abid N,Hoey S

更新日期：2018-07-31 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：: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 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：: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：: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：: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: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：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：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：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：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：: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：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: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：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