Evaluation of parathyroid gland function using sodium bicarbonate infusion test for 22q11.2 deletion syndrome.

abstract：AIMS:To compare adult heights of GH-treated and GH-untreated patients with Silver-Russell syndrome (SRS) who were epigenotyped. METHODS:This was a nonrandomized retrospective study with matched controls at a single center. Molecular analysis of 32 out of 37 GH-treated patients (16 females) revealed IGF2-H19 epimutatio...

journal_title：Hormone research in paediatrics

authors： Binder G,Liebl M,Woelfle J,Eggermann T,Blumenstock G,Schweizer R

更新日期：2013-01-01 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：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：BACKGROUND/AIMS:Autoimmune hypophysitis (AH) is a rare inflammatory disease of the pituitary gland causing varying degrees of hypopituitarism and/or sellar compression. Cranial MRI remains the best noninvasive tool to diagnose AH, although a diagnosis of certainty requires pituitary biopsy. The objective of this study ...

journal_title：Hormone research in paediatrics

authors： Pollock AJ,Seibert TS,Salvatori C,Caturegli P,Allen DB

更新日期：2017-01-01 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：: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:To evaluate effects of growth hormone (GH) treatment on behaviour and psychosocial characteristics in short-stature children. METHODS:99 referred prepubertal non-familiar short-stature children (32 GH deficiency; 67 idiopathic short stature) aged 3-11 years, randomized to fixed or individual GH doses a...

journal_title：Hormone research in paediatrics

authors： Chaplin JE,Kriström B,Jonsson B,Hägglöf B,Tuvemo T,Aronson AS,Dahlgren J,Albertsson-Wikland K

更新日期：2011-01-01 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：:The detection of testosterone-producing ovarian tumors in childhood and adolescence by imaging techniques only can be difficult because of the tumors' radiological structure and sometimes diminutive size. We describe an 11.5-year-old girl with a 9-month history of voice deepening, mild hirsutism, minor acne, increased...

journal_title：Hormone research in paediatrics

authors： Braun R,Peter A,Warmann S,Fuchs J,Binder G

更新日期：2013-01-01 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：: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：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: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:Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1. OBJECTIVES:The aim of this study was to investigate the effects of poor...

journal_title：Hormone research in paediatrics

authors： Melis D,Pivonello R,Cozzolino M,Della Casa R,Balivo F,Del Puente A,Dionisi-Vici C,Cotugno G,Zuppaldi C,Rigoldi M,Parini R,Colao A,Andria G,Parenti G

更新日期：2014-01-01 00:00:00

abstract：BACKGROUND:Effective treatment and close monitoring in children with congenital hyperinsulinism (HI) are important to prevent hypoglycemic-associated brain damage. The current monitoring approach involves measuring plasma glucose intermittently, but this does not provide a comprehensive assessment of glycemic control a...

journal_title：Hormone research in paediatrics

authors： Rayannavar A,Elci OU,Mitteer L,De León DD

更新日期：2019-01-01 00:00:00

abstract：:Leydig cell testicular tumors are very rare in children. They can present as gonadotropin-independent precocious puberty due to excess androgen secretion. We report the case of an 8-year-old boy with isosexual precocity whose hormonal investigation showed luteinizing hormone-independent testosterone hypersecretion. Al...

journal_title：Hormone research in paediatrics

authors： Santos-Silva R,Bonito-Vítor A,Campos M,Fontoura M

更新日期：2014-01-01 00:00:00

abstract：BACKGROUND:Congenital primary hypothyroidism (CH) is the most common endocrine disorder in neonates. METHODS:To identify novel genes, we performed whole exome sequencing (WES) in 6 patients with CH due to thyroid dysgenesis (TD). The potential effects of the most relevant variants were analyzed using in silico predict...

journal_title：Hormone research in paediatrics

authors： Choukair D,Eberle B,Vick P,Hermanns P,Weiss B,Paramasivam N,Schlesner M,Lornsen K,Roeth R,Klutmann C,Kreis J,Hoffmann GF,Pohlenz J,Rappold GA,Bettendorf M

更新日期：2020-01-01 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:Insulin-like growth factor I (IGF-I) immunoassays are primarily used to estimate IGF-I status. Recently an IGF-I-specific kinase receptor activation assay (KIRA) was developed as an alternative method for measuring IGF-I bioactivity. When compared with IGF-I immunoassays, the IGF-I KIRA has the theoretical a...

journal_title：Hormone research in paediatrics

authors： Janssen JA

更新日期：2011-01-01 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：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：BACKGROUND/AIMS:Over the years a rise in the incidence of congenital hypothyroidism (CH) has been described worldwide. The aim of our study was to investigate trends in the incidence of CH in Italy over the period 1987-2008, and to investigate which factors may have influenced the CH incidence in our country. METHODS:...

journal_title：Hormone research in paediatrics

authors： Olivieri A,Fazzini C,Medda E,Italian Study Group for Congenital Hypothyroidism.

更新日期：2015-01-01 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: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：CONTEXT:Short stature homeobox-containing gene (SHOX) variants of unknown clinical significance occur frequently among children with short stature, yet their growth hormone (GH)/insulin-like growth factor-1 (IGF-1) status and response to GH have not been studied. OBJECTIVE:To define GH and IGF-1 status in children wit...

journal_title：Hormone research in paediatrics

authors： Shapiro S,Klein GW,Klein ML,Wallach EJ,Fen Y,Godbold JH,Rapaport R

更新日期：2015-01-01 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：:In humans, steroidogenic factor 1 (NR5A1/SF-1) mutations have been reported to cause gonadal dysgenesis, with or without adrenal failure, in both 46,XY and 46,XX individuals. We have previously reported extreme within-family variability in affected 46,XY patients. Even though low ovarian reserve with preserved fertili...

journal_title：Hormone research in paediatrics

authors： Ciaccio M,Costanzo M,Guercio G,De Dona V,Marino R,Ramirez PC,Galeano J,Warman DM,Berensztein E,Saraco N,Baquedano MS,Chaler E,Maceiras M,Lazzatti JM,Rivarola MA,Belgorosky A

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:Because the criteria for genetic screening of short children are unknown, we performed genetic analysis of 199 short children born small for gestational age (SGA) or with normal birth size (idiopathic short stature, ISS). METHODS:After selection with a modified scoring system for SHOX and a novel score...

journal_title：Hormone research in paediatrics

authors： Caliebe J,Broekman S,Boogaard M,Bosch CA,Ruivenkamp CA,Oostdijk W,Kant SG,Binder G,Ranke MB,Wit JM,Losekoot M

更新日期：2012-01-01 00:00:00

abstract：:The rising incidence of obesity and metabolic diseases such as diabetes mellitus and cardiovascular disease in adolescents and young adults is of grave concern. Recent studies favor a role of lifestyle factors over genetics in the perpetuation of inflammation, insulin resistance and oxidative stress, which are pathoph...

journal_title：Hormone research in paediatrics

authors： Gupta A,Uribarri J

更新日期：2016-01-01 00:00:00