Identification of GPR39 receptor and ghrelin receptor in thyroid tissues in paediatric patients with immune and non-immune thyroid diseases.

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：: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: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: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/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/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: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: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：:The hypothalamic-pituitary-thyroid axis is a common site of unintended, acquired disease either during or after the treatment of cancer. Children treated with external radiation therapy are at the highest risk for developing a thyroid-related late effect, but thyroid dysfunction and second primary thyroid neoplasms ca...

journal_title：Hormone research in paediatrics

authors： Waguespack SG

更新日期：2019-01-01 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: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:Treatment with radioiodine for Graves' disease regularly increases the level of antithyroid antibodies, and transplacental passage of stimulating thyrotropin receptor antibodies (TRAb) may cause fetal hyperthyroidism. CASE PRESENTATION:A 21-year-old woman with Graves' disease received radioiodine treatment ...

journal_title：Hormone research in paediatrics

authors： Bjørgaas MR,Farstad H,Christiansen SC,Blaas HG

更新日期：2013-01-01 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: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：BACKGROUND:A UK study showed final height in Turner syndrome (TS) girls receiving growth hormone is affected by age at pubertal induction and oxandrolone (Ox). Using data from that study, we analysed the effect of timing of oral ethinylestradiol (EE2) and Ox on height velocity (HV), bone maturation and pubertal progres...

journal_title：Hormone research in paediatrics

authors： Perry RJ,Gault EJ,Paterson WF,Dunger DB,Donaldson MD

更新日期：2014-01-01 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:Children with neurofibromatosis type 1 (NF1) tend to be macrocephalic and short. Our aim was to define the incidence and diagnostic accuracy of elevated head circumference-to-height ratio (HCHR) in children with NF1 and to assess if elevated HCHR would facilitate early diagnosis of NF1. METHODS:Retrosp...

journal_title：Hormone research in paediatrics

authors： Karvonen M,Saari A,Hannila ML,Lönnqvist T,Dunkel L,Sankilampi U

更新日期：2013-01-01 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：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: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：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/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/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：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：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/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：: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: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：: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：: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