Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty.

abstract：:The preproghrelin gene is responsible for generating ghrelin and obestatin, two gastric peptides with opposite effects on food intake. Obestatin suppresses food intake and digestive motility through interaction with GPR39 (GPCR). Ghrelin is supposed to be a link connecting metabolism and energy homeostasis with growth...

journal_title：Hormone research in paediatrics

authors： Bossowski A,Czarnocka B,Harasymczuk J,Moniuszko A,Bardadin K,Lyczkowska A,Hanusek K,Bossowska A

更新日期：2013-01-01 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：:Disorders of adrenal steroidogenesis comprise autosomal recessive conditions affecting steroidogenic enzymes of the adrenal cortex. Those are located within the 3 major branches of the steroidogenic machinery involved in the production of mineralocorticoids, glucocorticoids, and androgens. This mini review describes t...

journal_title：Hormone research in paediatrics

authors： Baranowski ES,Arlt W,Idkowiak J

更新日期：2018-01-01 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：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：:Diabetic ketoacidosis (DKA) may be associated with neurologic complications: the most common is cerebral edema while the risk of venous and arterial stroke is rare. There is a pathogenetic link between DKA, hypercoagulability and stroke, whose risk is underestimated by clinicians. Our cases present a wide spectrum of ...

journal_title：Hormone research in paediatrics

authors： Mozzillo E,D'Amico A,Fattorusso V,Carotenuto B,Buono P,De Nitto E,Falco M,Franzese A

更新日期：2015-01-01 00:00:00

abstract：BACKGROUND:Previous studies suggest normal mineral status in children receiving elemental formula. However, a recent multicenter survey described 51 children who developed hypophosphatemia and bone disease while receiving elemental formula. Our aim is to determine the prevalence of metabolic bone disease in children re...

journal_title：Hormone research in paediatrics

authors： Creo AL,Epp LM,Buchholtz JA,Tebben PJ

更新日期：2018-01-01 00:00:00

abstract：BACKGROUND:Over the past 15 years, the incidence of type 1 diabetes mellitus (T1DM) in Central and Eastern Europe has grown rapidly from an initially low rate. This growth cannot be attributed to genetic factors: it appears that changing environmental exposures are responsible, though no single environmental factor can...

journal_title：Hormone research in paediatrics

authors： Cinek O

更新日期：2011-01-01 00:00:00

abstract：AIM:The aim of this study was to investigate the cardiovascular risk of children with premature adrenarche (PA). METHODS:A total of 75 children (44 with PA and 31 control subjects) aged 6-10 years were included in the study. Their metabolic, anthropometric, and echocardiographic parameters were recorded and compared. ...

journal_title：Hormone research in paediatrics

authors： Çelik N,Alp H,Çamtosun E,Alp E,Çelik S,Berk E

更新日期：2017-01-01 00:00:00

abstract：:Glucocorticoids (GCs), cortisol in humans, influence multiple essential maturational events during gestation. In the human fetus, fetal hypothalamic-pituitary-adrenal (HPA) axis function, fetal adrenal steroidogenesis, placental 11β- hydroxysteroid dehydrogenase type 2 activity, maternal cortisol concentrations, and e...

journal_title：Hormone research in paediatrics

authors： Morsi A,DeFranco D,Witchel SF

更新日期：2018-01-01 00:00:00

abstract：BACKGROUND/AIMS:The usefulness of the concept of the metabolic syndrome (MS) in its current form has recently been questioned, and its association with insulin resistance is unknown. We assessed whether a multivariate model based on all components of MS expressed on a continuous scale would be a better predictor of a c...

journal_title：Hormone research in paediatrics

authors： Vos RC,Houdijk EC,van der Kamp HJ,Pijl H,Wit JM

更新日期：2011-01-01 00:00:00

abstract：:The US Food and Drug Administration approved use of recombinant human growth hormone (GH) for the treatment of idiopathic short stature (ISS) in children; however, few studies have evaluated metabolic outcomes. This article addresses whether children with ISS treated with GH experience the same metabolic benefits as c...

journal_title：Hormone research in paediatrics

authors： Dahlgren J

更新日期：2011-01-01 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:Mutations in the imprinted gene MKRN3 have been described as a common genetic cause of idiopathic central precocious puberty (CPP), in particular in familial cases. However, the exact prevalence of mutations is unknown. Single nucleotide polymorphisms in 2 other imprinted genes, DLK1 and KCNK9, have been ass...

journal_title：Hormone research in paediatrics

authors： Grandone A,Capristo C,Cirillo G,Sasso M,Umano GR,Mariani M,Miraglia Del Giudice E,Perrone L

更新日期：2017-01-01 00:00:00

abstract：BACKGROUND:GATA6 mutations are the most frequent cause of pancreatic agenesis and diabetes in human sporadic cases. In families, dominantly inherited mutations show a variable phenotype also in terms of endocrine and exocrine pancreatic disease. We report two novel GATA6 mutations in an independent cohort of 8 children...

journal_title：Hormone research in paediatrics

authors： Gong M,Simaite D,Kühnen P,Heldmann M,Spagnoli F,Blankenstein O,Hübner N,Hussain K,Raile K

更新日期：2013-01-01 00:00:00

abstract：:Feeding problems are frequent in infants with congenital hyperinsulinism (HI) and may be exacerbated by continuous enteral nutrition (EN) used to maintain euglycemia. Our center's HI team uses dextrose solution given continuously via gastric tube (intrasgastric dextrose, IGD) for infants not fully responsive to conven...

journal_title：Hormone research in paediatrics

authors： Vajravelu ME,Congdon M,Mitteer L,Koh J,Givler S,Shults J,De León DD

更新日期：2019-01-01 00:00:00

abstract：BACKGROUND:There are few studies investigating the factors which may affect different biochemical presentations of Hashimoto's thyroiditis (HT) and these are frequently based on limited pediatric populations. AIMS:(1) To assess the frequency of thyroid function patterns at HT diagnosis in 608 children and adolescents,...

journal_title：Hormone research in paediatrics

authors： Wasniewska M,Corrias A,Salerno M,Mussa A,Capalbo D,Messina MF,Aversa T,Bombaci S,De Luca F,Valenzise M

更新日期：2012-01-01 00:00:00

abstract：INTRODUCTION:Although growth hormone (GH) is essential for attainment of peak bone mass, bone health in prepubertal children with GH deficiency is not routinely evaluated. The objective of this study was to evaluate bone microarchitecture in GH-deficient (GHD) boys using high-resolution peripheral quantitative computed...

journal_title：Hormone research in paediatrics

authors： Baer TG,Agarwal S,Chen S,Chiuzan C,Sopher AB,Tao R,Hassoun A,Shane E,Fennoy I,Oberfield SE,Vuguin PM

更新日期：2019-01-01 00:00:00

abstract：BACKGROUND:Obesity, age and hormone imbalances including hypothyroidism and growth hormone deficiency and therapy, but not gonadotropin-releasing hormone agonist (GnRHa) therapy, have been identified as risk factors for slipped capital femoral epiphysis (SCFE). Five of 7 reported cases describe SCFE in children shortly...

journal_title：Hormone research in paediatrics

authors： Inman M,Hursh BE,Mokashi A,Pinto T,Metzger DL,Cummings EA

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND/AIMS:With rising cure rates of childhood cancer, side effects of treatment are attracting increasing interest. The present analysis evaluates the influence of tumor localization, radiotherapy and chemotherapy on the age of menarche. METHODS:4,689 former pediatric oncology patients, diagnosed 1980-2004, were...

journal_title：Hormone research in paediatrics

authors： Wessel T,Balcerek M,Reinmuth S,Hohmann C,Keil T,Henze G,Borgmann-Staudt A

更新日期：2012-01-01 00:00:00

abstract：BACKGROUND:Altered adrenocortical activity is one suggested mechanism relating small birth size with the metabolic syndrome in adulthood. Adrenal androgen concentrations are higher in children born small (SGA) than appropriate for gestational age (AGA). AIM:To compare adrenocortical hormonal activity between 20-year-o...

journal_title：Hormone research in paediatrics

authors： Todorova B,Salonen M,Jääskeläinen J,Tapio A,Jääskeläinen T,Palvimo J,Turpeinen U,Hämäläinen E,Räsänen M,Tenhola S,Voutilainen R

更新日期：2012-01-01 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/AIMS:Vitamin D-deficient rickets (DR) has recently re-emerged among developed countries. Vitamin D deficiency can influence biochemical results of patients with fibroblast growth factor 23 (FGF23)-related hereditary hypophosphatemic rickets (HR), making differential diagnosis difficult. In the present study ...

journal_title：Hormone research in paediatrics

authors： Kubota T,Kitaoka T,Miura K,Fujiwara M,Ohata Y,Miyoshi Y,Yamamoto K,Takeyari S,Yamamoto T,Namba N,Ozono K

更新日期：2014-01-01 00:00:00

abstract：:The thyroid gland plays a major role in the human body; it produces the hormones necessary for appropriate energy levels and an active life. These hormones have a critical impact on early brain development and somatic growth. At the same time, the thyroid is highly vulnerable to autoimmune thyroid diseases (AITDs). Th...

journal_title：Hormone research in paediatrics

authors： Saranac L,Zivanovic S,Bjelakovic B,Stamenkovic H,Novak M,Kamenov B

更新日期：2011-01-01 00:00:00

abstract：AIMS:To evaluate auxological parameters in children and adults with a 22q11.2 microdeletion syndrome (22q11.2 DS) and to compare prevalence of obesity to that in the French general population. METHODS:102 patients with 22q11.2 DS (49 males, 53 females) were recruited from birth to adulthood through a reference center ...

journal_title：Hormone research in paediatrics

authors： Reynaud R,Derain-Court J,Braunstein D,Veyrat M,Gaudart J,Giuliano F,Philip N

更新日期：2011-01-01 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/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: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：:Infantile Cushing's syndrome is potentially found as part of McCune-Albright syndrome (MAS) which is caused by postzygotic somatic mutations of the GNAS gene. MAS is typically characterized by a triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and precocious puberty or other endocrine hyperfunct...

journal_title：Hormone research in paediatrics

authors： Dejkhamron P,Ittiwut C,TangNgam H,Sunkonkit K,Natesirinilkul R,Suphapeetiporn K,Shotelersuk V

更新日期：2019-01-01 00:00:00

abstract：BACKGROUND/AIMS:This study aimed to investigate the association of endothelial nitric oxide synthase (eNOS) polymorphisms with impaired endothelium-dependent dilatation (EDD) in a cohort of children and adolescents with type 1 diabetes. METHODS:Ninety-seven children and adolescents with type 1 diabetes underwent ultra...

journal_title：Hormone research in paediatrics

authors： Battelino N,Sebestjen M,Keber I,Blagus R,Hovnik T,Bratina N,Battelino T

更新日期：2011-01-01 00:00:00