Absence of Testicular Adrenal Rest Tumors in Newborns, Infants, and Toddlers with Classical Congenital Adrenal Hyperplasia.

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：: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: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：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：: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

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：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/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：:Regular self-monitoring of blood glucose is crucial for proper insulin dosing and gives a reliable foundation for reasonable glycaemic control. According to recent data, recommended values for glycated haemoglobin A1c as set by the professional associations remain out of the reach for a large proportion of the paediat...

journal_title：Hormone research in paediatrics

authors： Dovč K,Bratina N,Battelino T

更新日期：2015-01-01 00:00:00

abstract：BACKGROUND/AIMS:Newborn screening protocols for congenital hypothyroidism (CH) vary as to whether a TSH or T4 algorithm or some combination is performed. We aimed to determine the 3-year clinical outcome of infants diagnosed with CH and screen-positive for CH using a 2-screen protocol that measures both T4 and TSH on a...

journal_title：Hormone research in paediatrics

authors： Pitts L,McCormick W,Mick GJ

更新日期：2019-01-01 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:The flare-up effect of GnRH analogues may cause transient uterine bleeding in girls affected with idiopathic central precocious puberty (ICPP). AIMS:To assess the incidence of endometrial bleeding and verify whether pretreatment with cyproterone acetate could counteract it. METHODS:Fifty-four girls affecte...

journal_title：Hormone research in paediatrics

authors： Seminara S,Nanni L,Generoso M,Mirri S,Leonardi V,Slabadzianiuk T,Vetrano ML,Buongiorno A,Losi S,Galluzzi F

更新日期：2010-01-01 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：: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：: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

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：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: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：BACKGROUND:Significant idiopathic bone age (BA) advancement is defined as BA >2 SD above the mean chronological age (CA) with no underlying etiology. BA advancement due to endocrinopathies is associated with early puberty and compromised adult height (AHt), necessitating treatment. The natural history of idiopathic BA ...

journal_title：Hormone research in paediatrics

authors： Lazar L,Lebenthal Y,Shalitin S,Phillip M

更新日期：2011-01-01 00:00:00

abstract：:Following the introduction of life-saving glucocorticoid replacement 60 years ago, congenital adrenal hyperplasia (CAH) has evolved from being perceived as a paediatric disorder to being recognized as a lifelong, chronic condition affecting patients of all age groups. Increasing evidence suggests that patients with CA...

journal_title：Hormone research in paediatrics

authors： Reisch N,Arlt W,Krone N

更新日期：2011-01-01 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：INTRODUCTION:46,XX ovotesticular disorder of sex development (DSD), as defined by the Chicago consensus in 2006, is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype and a wide phenotypic spectrum from female to male appearance. CASE PRESENTATION:We report ...

journal_title：Hormone research in paediatrics

authors： Pinti E,Piko H,Lengyel A,Luczay A,Karcagi V,Fekete G,Haltrich I

更新日期：2019-01-01 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: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: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: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：: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: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/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: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