Evaluation of vitamin D supplementation doses during pregnancy in a population at high risk for deficiency.

abstract：BACKGROUND/AIMS:Lipodystrophy encompasses a group of rare disorders characterized by deficiency of adipose tissue resulting in hypoleptinemia, and metabolic abnormalities including insulin resistance, diabetes, dyslipidemia, and nonalcoholic steatohepatitis. Leptin replacement effectively ameliorates these metabolic de...

journal_title：Hormone research in paediatrics

authors： Kamran F,Rother KI,Cochran E,Safar Zadeh E,Gorden P,Brown RJ

更新日期：2012-01-01 00:00:00

abstract：BACKGROUND:Partial duplication of 2p is a rare condition that causes facial anomalies, psychomotor delay, and growth failure. Hypercalcaemia is rare in children. So far, duplication of 2p has never been associated with hypercalcaemia. METHODS:Here, we report a girl with a partial duplication of 2p presenting with mode...

journal_title：Hormone research in paediatrics

authors： Lodefalk M,Frykholm C,Esbjörner E,Ljunggren Ö

更新日期：2016-01-01 00:00:00

abstract：INTRODUCTION:Hair cortisol concentrations (HCC) have been found to be related to various common childhood diseases, like otitis media, conjunctivitis, respiratory viral infections, and asthma. However, the confounding effects of age, gender, body mass index (BMI), pubertal stage (Tanner stages), socioeconomic status (S...

journal_title：Hormone research in paediatrics

authors： Wagner M,Kratzsch J,Vogel M,Peschel T,Gaudl A,Ceglarek U,Thiery J,Hiemisch A,Körner A,Kiess W

更新日期：2019-01-01 00:00:00

abstract：:Hypothalamic obesity (HO) frequently occurs following damage to the medial hypothalamic region, encompassing the arcuate nucleus, the paraventricular nucleus, the ventromedial nucleus, the dorsomedial nucleus, and the dorsal hypothalamic area, which are critically involved in the regulation of satiety and energy balan...

journal_title：Hormone research in paediatrics

authors： Abuzzahab MJ,Roth CL,Shoemaker AH

更新日期：2019-01-01 00:00:00

abstract：INTRODUCTION:46,XX ovotesticular disorder of sex development (DSD), as defined by the Chicago consensus in 2006, is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype and a wide phenotypic spectrum from female to male appearance. CASE PRESENTATION:We report ...

journal_title：Hormone research in paediatrics

authors： Pinti E,Piko H,Lengyel A,Luczay A,Karcagi V,Fekete G,Haltrich I

更新日期：2019-01-01 00:00:00

abstract：BACKGROUND:Hypercalcemia of immobilization, while rare, may occur in adolescent boys after fracture. Although not fully understood, the mechanism appears to be related to bone turnover uncoupling, in part mediated by upregulation of RANKL. Animal studies suggest that parathyroidectomy suppresses RANKL-stimulated osteoc...

journal_title：Hormone research in paediatrics

authors： Henry RK,Gafni RI

更新日期：2016-01-01 00:00:00

abstract：BACKGROUND/AIMS:Vitamin D deficiency is common in children with neurodisabilities. Oral vitamin D3 may not be absorbed appropriately due to dysphagia and tube feeding. The aim of this study was to compare efficacy of vitamin D3 buccal spray with that of oral drops. METHODS:Twenty-four children with neurodisabilities (...

journal_title：Hormone research in paediatrics

authors： Penagini F,Borsani B,Maruca K,Giosia V,Bova S,Mastrangelo M,Zuccotti GV,Mora S

更新日期：2017-01-01 00:00:00

abstract：BACKGROUND/AIMS:Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in orde...

journal_title：Hormone research in paediatrics

authors： Al-Ashwal AA,Al-Sagheir A,Ramzan K,Al-Owain M,Allam R,Qari A,Al-Numair NS,Imtiaz F

更新日期：2017-01-01 00:00:00

abstract：BACKGROUND AND OBJECTIVE:Woodhouse-Sakati syndrome (WSS) is a rare autosomal-recessive disorder characterized by a combination of hypogonadism, alopecia, diabetes mellitus (DM), mental retardation and extrapyramidal signs, not described previously in Israel. Our aim was to study the clinical and genetic characteristics...

journal_title：Hormone research in paediatrics

authors： Rachmiel M,Bistritzer T,Hershkoviz E,Khahil A,Epstein O,Parvari R

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND:Survivors of childhood with haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) have an increased cardiometabolic risk without overt obesity. AIM:To describe cardiometabolic risk in HSCT/TBI survivors and identify anthropometric measurements of adiposity representative of cardiome...

journal_title：Hormone research in paediatrics

authors： Wei C,Hunt L,Cox R,Bradley K,Elson R,Shield J,Stevens M,Crowne E

更新日期：2017-01-01 00:00:00

abstract：AIM:Our aim was to investigate the relationships between the degree of IGF2 methylation and the metabolic status in obese children and adolescents. SUBJECTS AND METHODS:Eighty-five obese subjects aged 11.6 ± 2.1 years were studied. Anthropometry, metabolic parameters, blood pressure and body composition were assessed....

journal_title：Hormone research in paediatrics

authors： Deodati A,Inzaghi E,Liguori A,Puglianiello A,Germani D,Brufani C,Fintini D,Cappa M,Barbetti F,Cianfarani S

更新日期：2013-01-01 00:00:00

abstract：AIMS:Hyperinsulinemic hypoglycemia (HH) is common in small-for-gestational-age (SGA) neonates. Diazoxide is often used as the first-line medication for HH in SGA neonates. Unfortunately, diazoxide is not authorized in China. We examined the effectiveness of octreotide as an alternative therapy to treat HH in SGA neonat...

journal_title：Hormone research in paediatrics

authors： Pan S,Zhang M,Li Y

更新日期：2015-01-01 00:00:00

abstract：BACKGROUND:The paradox of pituitary tumours is that persistent growth is so atypical. By definition, all pituitary microadenomas regain complete trophic stability after an initial period of deregulated growth. Unlike tumours in many other organ systems, concern about significant growth of macroadenoma remnants after de...

journal_title：Hormone research in paediatrics

authors： Levy A

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND/AIM:In adults, studies have shown that obesity is a chronic low-grade inflammatory state characterized by altered levels of cytokines. Studies in children have mainly focused on C-reactive protein and adiponectin, and there is limited data for other inflammatory markers in healthy weight and overweight child...

journal_title：Hormone research in paediatrics

authors： Tam CS,Garnett SP,Cowell CT,Heilbronn LK,Lee JW,Wong M,Baur LA

更新日期：2010-01-01 00:00:00

abstract：:The thyroid hormone (TH) system plays a central role in central physiological processes of many species, including mammals and humans, ranging from growth and cell differentiation, energy metabolism, thermoregulation and phasing of hibernation or annual movements of migratory species, metamorphosis from larvae to adul...

journal_title：Hormone research in paediatrics

authors： Gutleb AC,Cambier S,Serchi T

更新日期：2016-01-01 00:00:00

abstract：:For surgery in congenital hyperinsulinism (CHI), a distinct strategy and technique is required for focal, diffuse and atypical types. In focal CHI, a confined, localized and parenchyma-sparing resection which is guided by the PET-CT is always indicated in order to cure the patient. In diffuse CHI, however, the results...

journal_title：Hormone research in paediatrics

authors： Barthlen W,Mohnike W,Mohnike K

更新日期：2010-01-01 00:00:00

abstract：BACKGROUND:Diazoxide is the first-line treatment for pediatric hyperinsulinemic hypoglycemia (HI). This study aimed to elucidate the pharmacokinetics of diazoxide in children with HI. METHODS:We obtained 81 blood samples from 22 children with HI. Measured serum diazoxide concentrations were used for population pharmac...

journal_title：Hormone research in paediatrics

authors： Kizu R,Nishimura K,Sato R,Kosaki K,Tanaka T,Tanigawara Y,Hasegawa T

更新日期：2017-01-01 00:00:00

abstract：BACKGROUND/AIMS:Salivary cortisol has been widely used to assess childhood stress. Yet, there is no consensus on reference concentrations, awakening response, guideline compliance and contribution of sampling factors to the variation in children's salivary cortisol levels. METHODS:Samples were collected from 444 Belgi...

journal_title：Hormone research in paediatrics

authors： Michels N,Sioen I,De Vriendt T,Huybrechts I,Vanaelst B,De Henauw S

更新日期：2012-01-01 00:00:00

abstract：BACKGROUND/AIM:Combined growth hormone (GH) and insulin therapy is rarely prescribed by pediatric endocrinologists. We investigated the attitude of Italian physicians to prescribing that therapy in the case of short stature and type-1 diabetes (T1DM). METHODS:A questionnaire was sent and if a patient was identified, d...

journal_title：Hormone research in paediatrics

authors： Zucchini S,Iafusco D,Vannelli S,Rabbone I,Salzano G,Pozzobon G,Maghnie M,Cherubini V,Bizzarri C,Bonfanti R,D'Annunzio G,Lenzi L,Maggio MC,Marigliano M,Scaramuzza A,Tumini S,Iughetti L

更新日期：2014-01-01 00:00:00

abstract：BACKGROUND/AIMS:We obtained reference data for testicular volume measured by ultrasound in asymptomatic boys aged 0.5-18 years. In addition, we assessed the validity of the Prader orchidometer per age group by correlating it with the volume measurement by ultrasound. METHODS:The study only included healthy boys with t...

journal_title：Hormone research in paediatrics

authors： Goede J,Hack WW,Sijstermans K,van der Voort-Doedens LM,Van der Ploeg T,Meij-de Vries A,Delemarre-van de Waal HA

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND/AIM:It was the aim of this study to evaluate subtle adrenocorticotropic hormone deficiencies in a group of patients with idiopathic growth hormone deficiency and without thyroid-stimulating hormone deficiency. METHODS:Growth hormone and cortisol responses to an insulin tolerance test of 25 patients (15 male...

journal_title：Hormone research in paediatrics

authors： Savas Erdeve S,Ocal G,Berberoglu M,Siklar Z,Hacihamdioglu B

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND:ACP5 deficiency is known to cause spondyloenchondrodysplasia (SPENCD), which is characterized by various autoimmune and neurological symptoms in addition to short stature. METHODS:Two siblings from a consanguineous Turkish family, a girl aged 13 years (P1) and a boy aged 8 years (P2), presented to their end...

journal_title：Hormone research in paediatrics

authors： de Bruin C,Orbak Z,Andrew M,Hwa V,Dauber A

更新日期：2016-01-01 00:00:00

abstract：BACKGROUND/AIM:TTF1 and EAP1 are transcription factors that modulate gonadotropin-releasing hormone expression. We investigated the contribution of TTF1 and EAP1 genes to central pubertal disorders. PATIENTS AND METHODS:133 patients with central pubertal disorders were studied: 86 with central precocious puberty and 4...

journal_title：Hormone research in paediatrics

authors： Cukier P,Wright H,Rulfs T,Silveira LF,Teles MG,Mendonca BB,Arnhold IJ,Heger S,Latronico AC,Ojeda SR,Brito VN

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND:3β-hydroxysteroid dehydrogenase (3βHSD) type 2 (encoded by HSD3B2) is expressed in the adrenals and gonads. HSD3B2 mutations cause the rare form of congenital adrenal hyperplasia '3βHSD deficiency'. In its classic form, affected individuals have salt wasting early in infancy and may have ambiguous genitalia ...

journal_title：Hormone research in paediatrics

authors： Jeandron DD,Sahakitrungruang T

更新日期：2012-01-01 00:00:00

abstract：BACKGROUND:The flare-up effect of GnRH analogues may cause transient uterine bleeding in girls affected with idiopathic central precocious puberty (ICPP). AIMS:To assess the incidence of endometrial bleeding and verify whether pretreatment with cyproterone acetate could counteract it. METHODS:Fifty-four girls affecte...

journal_title：Hormone research in paediatrics

authors： Seminara S,Nanni L,Generoso M,Mirri S,Leonardi V,Slabadzianiuk T,Vetrano ML,Buongiorno A,Losi S,Galluzzi F

更新日期：2010-01-01 00:00:00

abstract：BACKGROUND/AIMS:Type 1 diabetes (T1DM) is associated with gastric autoimmunity, which is characterized by the presence of parietal cell antibodies (APCA). We investigated gastric autoimmunity prevalence in T1DM children, its manifestations, determinants and association with thyroid gland (anti-Tg, anti-TPO) and pancrea...

journal_title：Hormone research in paediatrics

authors： Kakleas K,Kostaki M,Critselis E,Karayianni C,Giannaki M,Anyfantakis K,Haramaras I,Fotinou A,Papathanasiou A,Karavanaki K

更新日期：2012-01-01 00:00:00

abstract：:Hepatic haemiangiomas in infancy are rare. An association with hypothyroidism has been previously reported and is believed to be secondary to the conversion of thyroxine (fT4) to biologically inactive reverse triiodothyronine (rT3) by type 3 iodothyronine deiodinase (D3). We report a case that responded well to the co...

journal_title：Hormone research in paediatrics

authors： Peters C,Langham S,Mullis PE,Dattani MT

更新日期：2010-01-01 00:00:00

abstract：BACKGROUND/AIMS:Syndromes of reduced sensitivity to thyroid hormone can be caused by innate resistance to thyroid hormone (RTH), thyroid hormone cell transporter defects, or thyroid hormone metabolism defects. This study was performed to describe clinical, endocrinological, and molecular characteristics of patients wit...

journal_title：Hormone research in paediatrics

authors： Choi JH,Cho JH,Kim JH,Yoo EG,Kim GH,Yoo HW

更新日期：2018-01-01 00:00:00

abstract：BACKGROUND/AIMS:Mutations in the human growth hormone receptor gene (GHR) are the most common cause of growth hormone insensitivity (GHI) syndrome and insulin-like growth factor (IGF-1) deficiency. The extracellular domain of GHR (encoded by exons 2-7 of the GHR gene) can be proteolytically cleaved to circulate as GH-b...

journal_title：Hormone research in paediatrics

authors： Feigerlova E,Swinyard M,Derr MA,Farnsworth J,Andrew SF,Rosenfeld RG,Hwa V

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND/AIMS:Newborn screening protocols for congenital hypothyroidism (CH) vary as to whether a TSH or T4 algorithm or some combination is performed. We aimed to determine the 3-year clinical outcome of infants diagnosed with CH and screen-positive for CH using a 2-screen protocol that measures both T4 and TSH on a...

journal_title：Hormone research in paediatrics

authors： Pitts L,McCormick W,Mick GJ

更新日期：2019-01-01 00:00:00