Molecular and gene network analysis of thyroid transcription factor 1 (TTF1) and enhanced at puberty (EAP1) genes in patients with GnRH-dependent pubertal disorders.

abstract：:3-M syndrome is an autosomal recessive primordial growth disorder characterised by severe postnatal growth restriction caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities. CUL7 is a stru...

journal_title：Hormone research in paediatrics

authors： Hanson D,Murray PG,Black GC,Clayton PE

更新日期：2011-01-01 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：INTRODUCTION:Obesity is increasing among the pregnant population. Leptin has an important role in the regulation of energy balance and hunger. The aim of this study was to investigate the association between maternal leptin levels with maternal obesity, gestational weight gain (GWG), single nucleotide polymorphisms (SN...

journal_title：Hormone research in paediatrics

authors： Serapio S,Ahlsson F,Larsson A,Kunovac Kallak T

更新日期：2019-01-01 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：INTRODUCTION:Abnormalities in adipose tissue AdipoR1; adaptor protein, phosphotyrosine interaction, PH domain, and leucine zipper containing 1 (APPL1); GTPase Rab5; adiponectin; leptin; and visfatin in adults with obesity have been associated with metabolic disturbances. OBJECTIVE:The objective of this study was to ex...

journal_title：Hormone research in paediatrics

authors： Karvela A,Kostopoulou E,Rojas Gil AP,Avgeri A,Pappa A,Barrios V,Lambrinidis G,Dimopoulos I,Georgiou G,Argente J,Spiliotis B

更新日期：2020-01-01 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: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：: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/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：: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/AIMS:We aimed to investigate whether the anti-Müllerian hormone (AMH) levels in adolescents with polycystic ovary syndrome (PCOS), PCOS risk, and isolated oligomenorrhea (OM) were different than in adolescents with a normal/regular menstrual cycle (NMC). METHODS:The diagnosis of PCOS was based on the 2012 A...

journal_title：Hormone research in paediatrics

authors： Savas-Erdeve S,Keskin M,Sagsak E,Cenesiz F,Cetinkaya S,Aycan Z

更新日期：2016-01-01 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/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：AIMS:To investigate health-related quality of life (HRQoL) in short children born small for gestational age (SGA) during growth hormone (GH) treatment and additional postponement of puberty by gonadotropin-releasing hormone analogue (GnRHa). METHODS:HRQoL was studied longitudinally during 2 years of treatment in 97 sh...

journal_title：Hormone research in paediatrics

authors： Lem AJ,Jobse I,van der Kaay DC,de Ridder MA,Raat H,Hokken-Koelega AC

更新日期：2012-01-01 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:A total of 12 children with neurofibromatosis type 1 (NF-1) with optic pathway glioma (OPG) and growth hormone (GH) excess are reported to date, but no data exist on the long-term outcome. We describe 2 girls with NF-1 with OPG and GH excess treated with somatostatin analogue (SSa) who maintained a normal GH...

journal_title：Hormone research in paediatrics

authors： Bruzzi P,Sani I,Albanese A

更新日期：2015-01-01 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：AIMS:To examine the cross-sectional relationship between blood pressure (BP) and (1) in vivo insulin sensitivity (IS) and (2) circulating adiponectin levels in overweight adolescents, and to determine if these relationships are driven by adiposity. METHODS:Sixty-five white pubertal overweight adolescents underwent a h...

journal_title：Hormone research in paediatrics

authors： De Las Heras J,Lee S,Bacha F,Tfayli H,Arslanian S

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：BACKGROUND:The steroidogenic acute regulatory protein (StAR) is essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause lipoid congenital adrenal hyperplasia. OBJECTIVE AND METHODS:To identify causative mutations in a patient presenting with adrenal failure ...

journal_title：Hormone research in paediatrics

authors： Yüksel B,Kulle AE,Gürbüz F,Welzel M,Kotan D,Mengen E,Holterhus PM,Topaloğlu AK,Grötzinger J,Riepe FG

更新日期：2013-01-01 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:Insulin-like growth factor (IGF)-I is critical for normal human growth. Extremely rare homozygous mutations of the IGF1 gene severely impair intrauterine growth, intellectual development and postnatal growth. CASE/METHOD: A young male presented with postnatal growth retardation (-4.0 height SDS). His se...

journal_title：Hormone research in paediatrics

authors： Fuqua JS,Derr M,Rosenfeld RG,Hwa V

更新日期：2012-01-01 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 AND AIM:Accelerated weight gain after (adeno)tonsillectomy has been reported in a number of studies. Whether (adeno)tonsillectomy is also a risk factor for development of overweight is unknown. We investigated serum leptin and plasma ghrelin levels before and 1 year after (adeno)tonsillectomy operation in ch...

journal_title：Hormone research in paediatrics

authors： Karalok ZS,Akdag M,Turhan M,Uzun G,Ozdem S,Dinc O,Bircan I

更新日期：2014-01-01 00:00:00

abstract：AIM/BACKGROUND:Vitamin D supplementation during pregnancy is a well-accepted recommendation worldwide; however, the debate about the correct dose is ongoing. We aimed to compare daily doses of 600, 1,200, and 2,000 IU in this randomized, controlled study. METHODS:The study group consisted of 91 pregnant women aged 16-...

journal_title：Hormone research in paediatrics

authors： Yesiltepe Mutlu G,Ozsu E,Kalaca S,Yuksel A,Pehlevan Y,Cizmecioglu F,Hatun S

更新日期：2014-01-01 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：OBJECTIVES:Long-term clinical follow-up and mutation analysis were performed in 27 Chinese congenital hyperinsulinism patients. METHOD:27 hypoglycemia patients were diagnosed with CHI within 2 years of age. The long-term clinical outcome was analyzed and mutation analysis of 5 hyperinsulinism candidate genes was perfo...

journal_title：Hormone research in paediatrics

authors： Su C,Gong C,Sanger P,Li W,Wu D,Gu Y,Cao B

更新日期：2014-01-01 00:00:00

abstract：BACKGROUND/AIMS:Splicing CYP19 gene variants causing aromatase deficiency in 46,XX disorder of sexual development (DSD) patients have been reported in a few cases. A misbalance between normal and aberrant splicing variants was proposed to explain spontaneous pubertal breast development but an incomplete sex maturation ...

journal_title：Hormone research in paediatrics

authors： Saraco N,Nesi-Franca S,Sainz R,Marino R,Marques-Pereira R,La Pastina J,Perez Garrido N,Sandrini R,Rivarola MA,de Lacerda L,Belgorosky A

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：:Minipuberty describes the transient sex-specific activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first 6 months of life in boys and during the first 2 years in girls. It leads to a rise of luteinizing hormone, follicle-stimulating hormone, estradiol, and testosterone. The existence of minipubert...

journal_title：Hormone research in paediatrics

authors： Becker M,Hesse V

更新日期：2020-01-01 00:00:00