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Hormone Research in Pædiatrics

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https://www.readbyqxmd.com/read/29130988/recurrent-copy-number-variants-associated-with-syndromic-short-stature-of-unknown-cause
#1
Thais K Homma, Ana C V Krepischi, Tatiane K Furuya, Rachel S Honjo, Alexsandra C Malaquias, Debora R Bertola, Silvia S Costa, Ana P Canton, Rosimeire A Roela, Bruna L Freire, Chong A Kim, Carla Rosenberg, Alexander A L Jorge
BACKGROUND/AIMS: Genetic imbalances are responsible for many cases of short stature of unknown etiology. This study aims to identify recurrent pathogenic copy number variants (CNVs) in patients with syndromic short stature of unknown cause. METHODS: We selected 229 children with short stature and dysmorphic features, developmental delay, and/or intellectual disability, but without a recognized syndrome. All patients were evaluated by chromosomal microarray (array-based comparative genomic hybridization/single nucleotide polymorphism array)...
November 9, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29131093/metformin-for-rapidly-maturing-girls-with-central-adiposity-less-liver-fat-and-slower-bone-maturation
#2
Francis de Zegher, Cristina García Beltrán, Abel López-Bermejo, Lourdes Ibáñez
BACKGROUND/AIMS: Girls with low-birth weight (LBW) and postnatal weight catch-up tend to develop visceral and hepatic fat excess, which may be accompanied by an upregulated adrenarche with precocious pubarche (PP) and by a rapidly progressive puberty with early menarche and shorter stature. A pilot study suggested that metformin treatment for 4 years reduces central adiposity in LBW-PP girls and normalizes puberty and adult height. In this cohort, we studied the relationship between metformin treatment, bone maturation, and body composition...
November 7, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29131017/initial-presentation-of-type-2-diabetes-in-adolescents-predicts-durability-of-successful-treatment-with-metformin-monotherapy-insights-from-the-pediatric-diabetes-consortium-t2d-registry
#3
Fida Bacha, Peiyao Cheng, Robin L Gal, Craig Kollman, William V Tamborlane, Georgeanna J Klingensmith, Katherine Manseau, Jamie Wood, Roy W Beck
BACKGROUND/AIMS: Many adolescents with type 2 diabetes (T2D) have rapid deterioration of glycemic control on metformin monotherapy within 2 years of diagnosis. METHODS: Enrollment data from the Pediatric Diabetes Consortium T2D Registry were used to categorize 276 youth with a T2D duration ≥2 years into two groups: (1) participants with HbA1c <7.5% on metformin monotherapy (group 1, n = 75) and (2) participants treated with insulin ± metformin (group 2, n = 201)...
October 31, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29084400/type-2-diabetes-mellitus-in-adolescents-should-we-reconsider-screening
#4
Thomas Reinehr
No abstract text is available yet for this article.
October 30, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29073619/sodium-chloride-supplementation-is-not-routinely-performed-in-the-majority-of-german-and-austrian-infants-with-classic-salt-wasting-congenital-adrenal-hyperplasia-and-has-no-effect-on-linear-growth-and-hydrocortisone-or-fludrocortisone-dose
#5
Walter Bonfig, Friedhelm Roehl, Stefan Riedl, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Angela Hübner, Markus Bettendorf, Eckhard Schönau, Helmut Dörr, Reinhard W Holl, Klaus Mohnike
INTRODUCTION: Sodium chloride supplementation in salt-wasting congenital adrenal hyperplasia (CAH) is generally recommended in infants, but its implementation in routine care is very heterogeneous. OBJECTIVE: To evaluate oral sodium chloride supplementation, growth, and hydrocortisone and fludrocortisone dose in infants with salt-wasting CAH due to 21-hydroxylase in 311 infants from the AQUAPE CAH database. RESULTS: Of 358 patients with classic CAH born between 1999 and 2015, 311 patients had salt-wasting CAH (133 females, 178 males)...
October 26, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29073591/targeted-resequencing-of-putative-growth-related-genes-using-whole-exome-sequencing-in-patients-with-severe-primary-igf-i-deficiency
#6
Greta Grosse, Alina Hilger, Michael Ludwig, Heiko Reutter, Franziska Lorenzen, Gertrud Even, Paul-Martin Holterhus, Joachim Woelfle
BACKGROUND/AIMS: To elucidate the genetic causes of severe primary insulin-like growth factor-I deficiency (SPIGFD) by systematic, targeted, next-generation sequencing (NGS)-based resequencing of growth-related genes. METHODS: Clinical phenotyping followed by NGS in 17 families including 6 affected sib pairs. RESULTS: We identified disease-causing, heterozygous, de novo variants in HRAS (p.Gly13Cys) and FAM111A (p.Arg569His) in 2 male patients with syndromic SPIGFD...
October 26, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29049986/new-diagnostic-criteria-of-polycystic-ovarian-morphology-for-adolescents-impact-on-prevalence-and-hormonal-profile
#7
Paulina M Merino, Claudio Villarroel, Cristián Jesam, Patricia López, Ethel Codner
BACKGROUND: The ultrasonographic criteria used to identify polycystic ovarian morphology (PCOM) during adolescence have changed over time. Recently, a Worldwide Pediatric Consensus (PedC) defined PCOM using stricter criteria than the previous recommendations of the Rotterdam Consensus (RC) and Androgen Excess-Polycystic Ovarian Syndrome Society (AES/PCOS) criteria. The aim of this study was to determine the prevalence of PCOM in healthy adolescents according to the 3 reported diagnostic criteria and compare the hormonal profile in females with and without PCOM based on the PedC criteria...
October 19, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28965114/quality-of-life-in-children-with-disorders-of-sex-development
#8
Nalini M Selveindran, Syed Zulkifli Syed Zakaria, Muhammad Yazid Jalaludin, Rahmah Rasat
BACKGROUND/AIMS: Disorders of sex development (DSD) are a heterogeneous group of rare conditions. Evidence-based treatment is challenged by a lack of clinical longitudinal outcome studies. We sought to investigate the quality of life of children with DSD other than congenital adrenal hyperplasia. METHODS: The participants (aged 6-18 years) were 23 patients raised as males and 7 patients raised as females. Control data were obtained from representatives of the patients' siblings matched for age and gender...
September 29, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28965112/igf-i-deficiency-in-the-era-of-genomics-lessons-learned
#9
Andrew Dauber
No abstract text is available yet for this article.
September 29, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28954263/beneficial-effects-of-high-doses-of-cabergoline-in-the-treatment-of-giant-prolactinoma-resistant-to-dopamine-agonists-a-case-report-with-a-21-year-follow-up
#10
Lucas Faria de Castro, Maria de Fátima Magalhães Gonzaga, Luciana Ansaneli Naves, José Luiz Mendonça, Benicio Oton de Lima, Luiz Augusto Casulari
INTRODUCTION: Prolactinomas are pituitary tumors with a very low prevalence in childhood and adolescence compared to adulthood. This condition is preferentially treated with dopamine agonists. Resistance to these drugs is rare. CASE REPORT: We describe the case of a boy diagnosed with macroadenoma at the age of 9 and followed up for 21 years. He did not fully respond to treatment with dopamine agonists. His initial prolactin level was 2,400 ng/mL (in males, normal values are <16...
September 26, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28942447/anogenital-distance-in-term-newborns-in-kumasi-ghana
#11
Serwah Bonsu Asafo-Agyei, Emmanuel Ameyaw, Jean-Pierre Chanoine, Margaret Zacharin, Samuel Blay Nguah, Olumide Olatokunbo Jarrett
BACKGROUND: Anogenital distance (AGD) is a simple noninvasive measure of foetal androgen exposure. This study was done to generate normative data on AGD in Ghanaian newborns. METHODS: AGD was measured in 644 male and 612 female term newborns; including the distance between the anterior base of the penis and the centre of the anus, the posterior base of the penis and the centre of the anus, and the posterior base of the scrotum and the centre of the anus (ASD) in males and the distance from the anus to the fourchette (AF) and from the anus to the base of the clitoris in females...
September 22, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28926833/circulating-igf-i-igfbp-3-and-the-igf-i-igfbp-3-molar-ratio-concentration-and-height-outcome-in-prepubertal-short-children-on-rhgh-treatment-over-two-years-of-therapy
#12
María Gabriela Ballerini, Débora Braslavsky, Paula Alejandra Scaglia, Ana Keselman, María Eugenia Rodríguez, Alicia Martínez, Analía Verónica Freire, Horacio Mario Domené, Héctor Guillermo Jasper, Ignacio Bergadá, María Gabriela Ropelato
OBJECTIVE: To investigate the occurrence of abnormally elevated values of biomarkers of growth hormone (GH) action in short children on recombinant human GH (rhGH) therapy. METHODS: Sixty-three prepubertal short children were examined: 31 with GH deficiency (GHD), 25 small for gestational age (SGA), and 9 with Turner syndrome (TS). The main outcomes were the following: standard deviation score (SDS) values of IGF-I, IGFBP-3, and IGF-I/IGFBP-3 molar ratio before, at the 1st and at the 2nd year on rhGH and Δheight (Ht)-SDS to evaluate GH treatment efficacy (adequate 1st-year ΔHt SDS: >0...
September 19, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28926829/continuous-subcutaneous-recombinant-parathyroid-hormone-1-34-infusion-in-the-management-of-childhood-hypoparathyroidism-associated-with-malabsorption
#13
Vrinda Saraff, Anya Rothenbuhler, Wolfgang Högler, Agnès Linglart
BACKGROUND/AIMS: Hypoparathyroidism associated with malabsorption can be particularly challenging to manage due to limited and erratic intestinal absorption of calcium and vitamin D analogues, resulting in episodes of hypo- or hypercalcaemia. We evaluated the role of continuous subcutaneous recombinant parathyroid hormone (rhPTH 1-34) infusion (CSPI) in children with hypoparathyroidism associated with intestinal malabsorption resistant to conventional therapy. METHOD: Four patients (8-13 years of age), with symptomatic hypocalcaemia resistant to conventional therapy, were started on CSPI (follow-up 3-8 years) in two paediatric endocrinology units in Europe...
September 19, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28926827/one-year-follow-up-of-girls-with-precocious-puberty-and-their-mothers-do-psychological-assessments-change-over-time-or-with-treatment
#14
Melissa J Schoelwer, Kelly L Donahue, Paula Didrick, Erica A Eugster
BACKGROUND: To determine whether psychological characteristics of girls with variations of early puberty and their mothers change over time and with treatment in girls with central precocious puberty (CPP). METHODS: Girls with CPP, premature adrenarche (PA), and early normal puberty (ENP) completed psychological assessments at baseline and after 1 year along with their mothers. All girls with CPP were treated with GnRH analogs. Psychological effects of group and time were examined using 2 × 3 mixed ANOVAs...
September 19, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28910808/detecting-congenital-central-hypothyroidism-by-newborn-screening-difficulty-in-distinguishing-from-congenital-thyroxine-binding-globulin-deficiency
#15
Kara J Connelly, Melinda J Pierce, Cheryl Hanna, Stephen H LaFranchi
BACKGROUND/AIMS: Congenital central hypothyroidism (CH-C) can be detected on newborn screening (NBS) by programs using thyroxine (T4)-reflex thyroid-stimulating hormone (TSH) test approach. CH-C must be distinguished from T4-binding globulin (TBG) deficiency. We sought to determine whether thyroid function tests reliably separate CH-C from TBG deficiency. METHODS: We analyzed NBS and serum free and total T4, T3 resin uptake (T3RU) or TBG, and TSH for infants in the Northwest Regional NBS Program (NWRSP) between the years 2008 and 2015 with either CH-C or TBG deficiency...
September 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28898882/hospitalisation-in-children-with-adrenal-insufficiency-and-hypopituitarism-is-there-a-differential-burden-between-boys-and-girls-and-between-age-groups
#16
R Louise Rushworth, Georgina L Chrisp, Benjamin Dean, Henrik Falhammar, David J Torpy
BACKGROUND/AIMS: To determine the burden of hospitalisation in children with adrenal insufficiency (AI)/hypopituitarism in Australia. METHODS: A retrospective study of Australian hospitalisation data. All admissions between 2001 and 2014 for patients aged 0-19 years with a principal diagnosis of AI/hypopituitarism were included. Denominator populations were extracted from national statistics datasets. RESULTS: There were 3,779 admissions for treatment of AI/hypopituitarism in patients aged 0-19 years, corresponding to an average admission rate of 48...
September 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28772271/remission-phase-in-paediatric-type-1-diabetes-new-understanding-and-emerging-biomarkers
#17
Mireia Fonolleda, Marta Murillo, Federico Vázquez, Joan Bel, Marta Vives-Pi
Type 1 diabetes (T1D) is a metabolic disease of unknown aetiology that results from the autoimmune destruction of the β-cells. Clinical onset with classic hyperglycaemic symptoms occurs much more frequently in children and young adults, when less than 30% of β-cells remain. Exogenous insulin administration is the only treatment for patients. However, due to glucose dysregulation, severe complications develop gradually. Recently, an increase in T1D incidence has been reported worldwide, especially in children...
August 3, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28746941/occurrence-of-cranial-neoplasms-in-pediatric-patients-with-noonan-syndrome-receiving-growth-hormone-is-screening-with-brain-mri-prior-to-initiation-of-growth-hormone-indicated
#18
Kanthi Bangalore Krishna, Pedro Pagan, Oscar Escobar, Jadranka Popovic
Noonan syndrome (NS) is associated with short stature. Growth hormone treatment has been FDA approved for use in these patients. Children with NS are at a higher risk of developing benign and malignant proliferative disorders, primary brain tumors being one of them. Since growth hormone therapy can worsen the tumor burden, screening with a brain MRI prior to growth hormone initiation in NS patients is strongly recommended. Here we present two NS patients who developed different primary brain tumors while being on growth hormone therapy...
July 26, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28715810/population-pharmacokinetics-of-diazoxide-in-children-with-hyperinsulinemic-hypoglycemia
#19
Rika Kizu, Kazuko Nishimura, Reiko Sato, Kenjiro Kosaki, Toshiaki Tanaka, Yusuke Tanigawara, Tomonobu Hasegawa
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 pharmacokinetic analysis. Patient factors influencing pharmacokinetics were estimated using nonlinear mixed-effects model analysis. Relationships between drug exposure and adverse drug reactions were also investigated...
July 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28675896/two-siblings-with-a-mutation-in-ccdc8-presenting-with-mild-short-stature-a-case-of-3-m-syndrome
#20
Lihong Liao, Hoong-Wei Gan, Vivian Hwa, Mehul Dattani, Andrew Dauber
BACKGROUND: Short stature can be caused by mutations in a multitude of different genes. 3-M syndrome is a rare growth disorder marked by severe pre- and postnatal growth retardation along with subtle dysmorphic features. There have only been 2 prior reports of mutations in CCDC8 causing 3-M syndrome. METHODS: Two patients presenting with mild short stature underwent whole exome sequencing. The mutation was confirmed via Sanger sequencing. We compare the clinical characteristics of our 2 patients to patients previously reported with mutations in the same gene...
July 4, 2017: Hormone Research in Pædiatrics
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