The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.

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：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: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/AIMS:Hypothalamic hamartomas are the most common identifiable cause of central precocious puberty (CPP). Hamartoma characteristics proposed to be associated with CPP include specific anatomic features and expression of molecules such as gonadotropin-releasing hormone (GnRH), transforming growth factor alpha ...

journal_title：Hormone research in paediatrics

authors： Chan YM,Fenoglio-Simeone KA,Paraschos S,Muhammad L,Troester MM,Ng YT,Johnsonbaugh RE,Coons SW,Prenger EC,Kerrigan JF Jr,Seminara SB

更新日期：2010-01-01 00:00:00

abstract：BACKGROUND/AIMS:The autonomic nervous system (ANS) provides neurogenic control of inflammatory reactions. ANS changes in obesity may result in inflammation. This study sought to gain insight into cardiac autonomic dysfunction and inflammation in childhood obesity, and to gather pilot data on the potential relationship ...

journal_title：Hormone research in paediatrics

authors： Hursh BE,Fazeli MS,Wang S,Marchant EA,Woo P,Elango R,Lavoie PM,Chanoine JP,Collet JP

更新日期：2016-01-01 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:Ectopic intrathyroidal thymus has recently been reported in children as a cause of surgery and/or invasive diagnostic procedures when mistaken for a thyroid nodule. Thymus has a unique appearance at ultrasound (US). METHODS:We report a follow-up study (mean 34 months, range 6-84) performed by US on 9 childr...

journal_title：Hormone research in paediatrics

authors： Segni M,di Nardo R,Pucarelli I,Biffoni M

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：: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: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：:The diagnosis of childhood-onset growth hormone (GH) deficiency (GHD) is not straightforward, requiring a comprehensive clinical, anthropometric, biochemical, endocrine, and neuroradiological assessment. Although pharmacological GH stimulation tests are still considered the gold standard for GHD diagnosis, they are bu...

journal_title：Hormone research in paediatrics

authors： Federico G,Cianfarani S

更新日期：2010-01-01 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: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/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：BACKGROUND:Most isodicentric (Xp) and (Xq) chromosomes occur as a mosaic with a 45,X cell line. Patients with a nonmosaic 46,X,idic(Xq) are rare. CASES:The first girl was referred at 13 years with a short stature and pubertal delay (M1, P2, A1). Her height was 141.6 cm (-3.1 SDS). Ovarian failure was present. The seco...

journal_title：Hormone research in paediatrics

authors： van der Kamp HJ,Kant SG,Ruivenkamp CA,Gijsbers AC,Haring D,Oostdijk W

更新日期：2014-01-01 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：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：:In newborns and infants, dehydration and salt wasting represent a relatively common cause of admission to hospital and may result in life-threatening complications. Kidneys are responsible for electrolyte homoeostasis, but neonatal kidneys show low glomerular filtration rate and immaturity of the distal nephron, leadi...

journal_title：Hormone research in paediatrics

authors： Bizzarri C,Pedicelli S,Cappa M,Cianfarani S

更新日期：2016-01-01 00:00:00

abstract：BACKGROUND:The risk factors for rapid growth and early metastasis of papillary thyroid carcinoma (PTC) and the role of coexisting Graves' disease in the clinical course of PTC remain uncertain in children. CASE DESCRIPTION:We report on a Japanese girl, whose PTC rapidly grew and metastasized within 4 years. Graves' di...

journal_title：Hormone research in paediatrics

authors： Shimura K,Shibata H,Mizuno Y,Amano N,Hoshino K,Kuroda T,Kameyama K,Matsuse M,Mitsutake N,Sugino K,Yoshimura Noh J,Hasegawa T,Ishii T

更新日期：2019-01-01 00:00:00

abstract：BACKGROUND:Early detection of suspected poor adherence to growth hormone (GH) therapy is crucial to achieve normal final height in GH-deficient (GHD) patients. PATIENTS:106 children (73 M, 33 F) with a median age of 10.47±3.48 years (mean±standard deviation score (SDS)) exhibited short stature (-1.76±0.64 SDS) and a d...

journal_title：Hormone research in paediatrics

authors： Bozzola M,Pagani S,Iughetti L,Maffeis C,Bozzola E,Meazza C

更新日期：2014-01-01 00:00:00

abstract：:The hypothalamic-pituitary-adrenal axis is susceptible to programming during fetal development and may be linked to risk of disease later in life. In a former prospective study the cohort was divided into those born appropriate for gestational age (AGA) or small for gestational age (SGA; birth weight <10 percentile). ...

journal_title：Hormone research in paediatrics

authors： Beck Jensen R,Vielwerth S,Larsen T,Hilsted L,Cohen A,Hougaard DM,Jensen LT,Greisen G,Juul A

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND/AIMS:Youth with type 2 diabetes (T2D) have poor compliance with medical care. This study aimed to determine which demographic and clinical factors differ between youth with T2D who receive care in a pediatric diabetes center versus youth lost to follow-up for >18 months. METHODS:Data were analyzed from 496 ...

journal_title：Hormone research in paediatrics

authors： Shoemaker A,Cheng P,Gal RL,Kollman C,Tamborlane WV,Klingensmith GJ,Clements MA,Hannon TS,Heptulla R,Less J,Wood J,for the Pediatric Diabetes Consortium.

更新日期：2017-01-01 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：BACKGROUND/AIM:Four SNPs (E10SNP24, E10SNP158, E12SNP, E33SNP) in the Tg gene are suspected to be involved in the development of autoimmune thyroid diseases. The aim of the study was to determine whether these variants play a role in the development of Hashimoto's thyroiditis in young subjects with type 1 diabetes, in ...

journal_title：Hormone research in paediatrics

authors： Kotnik P,Debeljak M,Avbelj M,Hovnik T,Ursic Bratina N,Krzisnik C,Battelino T

更新日期：2010-01-01 00:00:00

abstract：BACKGROUND:Congenital hypothyroidism is a common congenital endocrine disorder prevailing all over the world. No nationwide screening exists for any sub-Saharan country. We present normative cord and capillary thyroid-stimulating hormone (TSH) values for healthy Nigerian newborns. SUBJECTS AND METHODS:A cross-sectiona...

journal_title：Hormone research in paediatrics

authors： Yarhere IE,Jaja T,Oduwole A,Ibekwe MU,Suwaid S,Alkali Y,Adeniran K,Fetuga B,Jarrett OO,Elusiyan JB,Adesiyun O,Idris HW,Blankenstein O,Akani NA

更新日期：2016-01-01 00:00:00

abstract：BACKGROUND:Testicular microlithiasis (TM) is characterized by calcium deposits within the seminiferous tubules and is associated with benign and malign conditions. AIM:To determine TM prevalence in patients with congenital adrenal hyperplasia (CAH) and its association with testicular adrenal rest tumors (TART). PATIE...

journal_title：Hormone research in paediatrics

authors： Poyrazoglu S,Saka N,Agayev A,Yekeler E

更新日期：2010-01-01 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: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：: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