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Hormone Research in Pædiatrics

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https://www.readbyqxmd.com/read/29772574/is-there-a-rationale-behind-pharmacotherapy-in-idiopathic-gynecomastia
#1
Anna Kasielska-Trojan, Marian Danilewicz, Bogusław Antoszewski
BACKGROUND/AIMS: The aim of this research was to analyze digit ratio in relation to estrogen receptor (ER) and progesterone receptor (PR) expression and to verify digit ratio (2D: 4D) as a marker of ER and PR overexpression in the male breast. METHODS: This study included 35 patients who underwent breast reduction due to the idiopathic form of gynecomastia. The average age of the studied individuals was 25.7 years (SD = 7.8). ER and PR expression was detected in breasts, and digit ratios were calculated in patients with idiopathic gynecomastia...
May 17, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29763893/patterns-of-infancy-growth-and-metabolic-hormonal-profile-are-different-in-very-low-birth-weight-preterm-infants-born-small-for-gestational-age-compared-to-those-born-appropriate-for-gestational-age
#2
María Isabel Hernandez, Katherine Rossel, Veronica Peña, Mirna Garcia, Gabriel Cavada, Alejandra Avila, German Iñiguez, Verónica Mericq
BACKGROUND/AIMS: An increased preterm birth survival rate is associated with long-term neurological and metabolic risks; thus, our aim was to evaluate whether early patterns of infancy anthropometry and metabolic hormonal profile differ in preterm infants born small for gestational age (SGA) or appropriate for gestational age (AGA) from birth to 36 months of corrected age (CA). METHODS: We recruited 110 very-low-birth-weight (VLBW) preterm infants (AGA = 60 and SGA = 50) with a mean birth weight of -2...
May 15, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29742513/human-adrenal-cortex-epigenetics-and-postnatal-functional-zonation
#3
María Sonia Baquedano, Alicia Belgorosky
The human adrenal cortex, involved in adaptive responses to stress, fluid homeostasis, and secondary sexual characteristics, arises from a tightly regulated development of a zone and cell type-specific secretory pattern. However, the molecular mechanisms governing adrenal zonation, particularly postnatal zona reticularis development, which produce adrenal androgens in a lifetime-specific manner, remain poorly understood. Epigenetic events, including DNA and histone modifications as well as regulation by noncoding RNAs, are crucial in establishing or maintaining the expression pattern of specific genes and thus contribute to the stability of a specific differentiation state...
May 9, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29742491/the-rise-fall-and-resurrection-of-11-oxygenated-androgens-in-human-physiology-and-disease
#4
Adina F Turcu, Aya T Nanba, Richard J Auchus
The 11-oxyandrogens, particularly 11-ketotestosterone, have been recognized as a biologically important gonadal androgen in teleost (bony) fishes for decades, and their presence in human beings has been known but poorly understood. Today, we recognize that 11-oxyandrogens derive from the human adrenal glands and are major bioactive androgens, particularly in women and children. This article will review their biosynthesis and metabolism, abundance in normal and pathologic states, and potential as biomarkers of adrenal developmental changes and disease...
May 9, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29742490/prenatal-treatment-of-congenital-adrenal-hyperplasia-long-term-effects-of-excess-glucocorticoid-exposure
#5
Svetlana Lajic, Leif Karlsson, Anna Nordenström
Prenatal treatment of congenital adrenal hyperplasia with dexamethasone (DEX) has been in use since the mid-1980s and has proven effective at reducing virilization of external genitalia in affected girls. However, multiple experimental studies on animals and clinical studies on humans show that prenatal administration of glucocorticoids may cause unwanted adverse effects which have raised concerns about the long-term safety of the treatment. The long-term outcome of prenatal DEX treatment on cognition has been investigated, but the results are still conflicting...
May 9, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29734195/tenascin-x-congenital-adrenal-hyperplasia-and-the-cah-x-syndrome
#6
Walter L Miller, Deborah P Merke
Mutations of the CYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). The CYP21A2 gene is partially overlapped by the TNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles of TNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). Rarely, patients with severe, salt-wasting CAH have deletions of CYP21A2 that extend into TNXB, resulting in a "contiguous gene syndrome" consisting of CAH and EDS...
May 7, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29734174/endocrine-history
#7
Stefano Cianfarani
No abstract text is available yet for this article.
May 7, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29730659/myxedema-coma-due-to-hashimoto-thyroiditis-a-rare-but-real-presentation-of-failure-to-thrive-in-infancy
#8
Ryan A Heksch, Rohan K Henry
BACKGROUND: Hashimoto thyroiditis (HT) is uncommon in infancy, and myxedema coma (MC) is even less common. While prior reports have documented these entities separately, to our knowledge, MC in combination with HT has not been reported before in this age group. METHODS/RESULTS: A 10-month-old female presented with ptosis, lethargy, dysphagia, and failure to thrive (FTT). She developed hypotension, bradycardia, hypothermia, and apnea requiring intubation. Initial thyroid-stimulating hormone was 422 μIU/mL, and free thyroxine was < 0...
May 4, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29719288/the-hypothalamic-pituitary-adrenal-axis-a-brief-history
#9
Walter L Miller
The hypothalamic-pituitary-adrenal (HPA) axis is central to homeostasis, stress responses, energy metabolism, and neuropsychiatric function. The history of this complex system involves discovery of the relevant glands (adrenal, pituitary, hypothalamus), hormones (cortisol, corticotropin, corticotropin-releasing hormone), and the receptors for these hormones. The adrenal and pituitary were identified by classical anatomists, but most of this history has taken place rather recently, and has involved complex chemistry, biochemistry, genetics, and clinical investigation...
May 2, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29694956/multiples-of-median-transformed-normalized-reference-ranges-of-steroid-profiling-data-independent-of-age-sex-and-units
#10
Dominika Zalas, Thomas Reinehr, Marek Niedziela, Christoph Borzikowsky, Maciej Flader, Gunter Simic-Schleicher, Halit Ilker Akkurt, Sabine Heger, Nadine Hornig, Paul-Martin Holterhus, Alexandra E Kulle
BACKGROUND/AIMS: The high complexity of pediatric reference ranges across age, sex, and units impairs clinical application and comparability of steroid hormone data, e.g., in congenital adrenal hyperplasia (CAH). We developed a multiples-of-median (MoM) normalization tool to overcome this major drawback in pediatric endocrinology. METHODS: Liquid chromatography tandem mass spectrometry data comprising 10 steroid hormones representing 905 controls (555 males, 350 females, 0 to > 16 years) from 2 previous datasets were MoM transformed across age and sex...
April 25, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29694951/vanishing-17-hydroxyprogesterone-concentrations-in-21-hydroxylase-deficiency
#11
Thomas Reinehr, Juliane Rothermel, Andreas Wegener-Panzer, Michaela F Hartmann, Stefan A Wudy, Paul-Martin Holterhus
We present a boy with a genetically proven congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. While massively elevated 17-hydroxyprogesterone (17-OHP) concentrations after birth led to the diagnosis, 17-OHP concentrations became immeasurable starting with the second year of life even though the dose of hydrocortisone was continuously decreased to ∼7 mg/m2/day. Furthermore, 17-OHP levels were immeasurable during the ACTH test and after withdrawing hydrocortisone medication. In contrast, ACTH levels increased after cessation of hydrocortisone treatment suggesting complete primary adrenal cortex failure...
April 25, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29669347/combined-pancreatic-islet-lung-liver-transplantation-in-a-pediatric-patient-with-cystic-fibrosis-related-diabetes
#12
Philippe Klee, Mirjam Dirlewanger, Vanessa Lavallard, Valerie A McLin, Anne Mornand, Nadine Pernin, Laetitia-Marie Petit, Paola M Soccal, Barbara E Wildhaber, Urs Zumsteg, Jean-Louis Blouin, Thierry Berney, Valerie M Schwitzgebel
BACKGROUND: Cystic fibrosis-related diabetes (CFRD) is the most frequent extrapulmonary complication of cystic fibrosis (CF). METHODS: We report the first combined pancreatic islet-lung-liver transplantation in a 14-year-old adolescent. CFTR was analyzed by Sanger sequencing. Further genes were analyzed by high-throughput sequencing. RESULTS: The patient was diagnosed with CF at the age of 14 months. Nine years later, after diagnosis of CFRD, the patient's BMI and lung function began to decline...
April 18, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29642061/higher-incidence-rates-of-hypothyroidism-and-late-tsh-rise-in-preterm-very-low-birth-weight-infants-at-a-tertiary-care-center
#13
Hala Tfayli, Lama Charafeddine, Hani Tamim, Joanne Saade, Rose T Daher, Khalid Yunis
BACKGROUND/AIMS: Preterm newborns with a very low birth weight (VLBW) of < 1,500 g have an atypical form of hypothyroidism with a delayed rise in TSH, necessitating a second newborn screening specimen collection. The aims of this study were to survey the compliance with second newborn screening to detect delayed TSH rise in VLBW preterm infants at a tertiary care center, and to determine the rate of atypical hypothyroidism. METHODS: Retrospective review of the records of 104 preterm VLBW infants...
April 11, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29320782/thyroid-hormone-status-in-overweight-children-with-attention-deficit-hyperactivity-disorder
#14
Christian Langrock, Johannes Hebebrand, Katharina Radowksi, Eckard Hamelmann, Thomas Lücke, Martin Holtmann, Tanja Legenbauer, Börge Schmidt, Mirjam Frank, Karl-Heinz Jöckel, Thomas Reinehr
BACKGROUND: There is an ongoing discussion whether thyroid hormones are involved in the development and course of attention deficit/hyperactivity disorder (ADHD). Since obesity is associated with both higher thyroid-stimulating hormone (TSH) and free triiodothyronine (fT3) concentrations and increased rates of ADHD, we hypothesized that overweight children with ADHD show higher TSH and fT3 concentrations compared to overweight children without ADHD. METHODS: TSH, fT3, fT4, and leptin levels were analyzed in 230 children (60...
January 10, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29587254/evaluation-of-the-freestyle%C3%A2-libre-flash-glucose-monitoring-system-in-children-and-adolescents-with-type-1-diabetes
#15
Guy G Massa, Inge Gys, Anniek Op 't Eyndt, Esmiralda Bevilacqua, Anne Wijnands, Peter Declercq, Renate Zeevaert
BACKGROUND/AIMS: The FreeStyle® Libre Flash Glucose Monitoring System (FGM, Abbott) measures glucose concentrations in the interstitial fluid for up to 14 days. It has been approved for use in children aged > 4 years in January 2016. Experience in children is still limited. We evaluated the accuracy and usability of the FGM in children with type 1 diabetes mellitus (DM). METHODS: 67 children with type 1 DM (35 girls), aged 4-18 years, were included. Subjects wore a sensor on the back of their upper arm...
2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29566378/adrenal-insufficiency-sex-reversal-and-angelman-syndrome-due-to-uniparental-disomy-unmasking-a-mutation-in-cyp11a1
#16
Ahlee Kim, Masanobu Fujimoto, Vivian Hwa, Philippe Backeljauw, Andrew Dauber
BACKGROUND/AIMS: Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report a case of the combination of primary adrenal insufficiency, a DSD (testes with female external genitalia in a setting of a 47,XXY karyotype), and Angelman syndrome. METHODS: Comprehensive genetic analyses were performed, including a single nucleotide polymorphism microarray and whole-exome sequencing...
2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29502117/children-with-a-history-of-premature-adrenarche-have-good-health-related-quality-of-life-at-the-age-of-12-years
#17
Jani Liimatta, Harri Sintonen, Pauliina Utriainen, Raimo Voutilainen, Jarmo Jääskeläinen
BACKGROUND/AIM: Children with premature adrenarche (PA) are taller and more overweight than their healthy peers, and PA girls have a slightly accelerated pubertal development. There is some evidence that early exposure to androgens may have an influence on psychosocial development. The aim of this cross-sectional case-control study was to evaluate health-related quality of life (HRQoL) in PA children at the age of 12 years. METHODS: The HRQoL was assessed for 43 PA (36 girls) and 63 control children (52 girls) at the median age of 12...
2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29471294/novel-familial-variant-of-the-desert-hedgehog-gene-clinical-findings-in-two-sisters-with-46-xy-gonadal-dysgenesis-or-46-xx-karyotype-and-literature-review
#18
Fulvia Baldinotti, Tiziana Cavallaro, Eleonora Dati, Giampiero I Baroncelli, Veronica Bertini, Angelo Valetto, Francesco Massart, Gian Maria Fabrizi, Giampietro Zanette, Diego Peroni, Silvano Bertelloni
BACKGROUND: In humans, Desert Hedgehog (DHH) gene mutations are a very rare cause of 46,XY gonadal dysgenesis (GD), eventually associated with peripheral neuropathy. PATIENTS AND METHODS: Clinical records of 12 patients with 46,XY GD and unknown genetic background were reviewed and a 46,XY woman with peripheral neuropathy was individuated. Her 46,XX sister affected by similar neuropathy was also investigated. Genomic DNA was extracted and DHH exons sequenced and analyzed...
2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29455209/obstructive-sleep-apnea-and-otolaryngologic-manifestations-in-children-with-pseudohypoparathyroidism
#19
Kathleen L Curley, Sachini Kahanda, Katia M Perez, Beth A Malow, Ashley H Shoemaker
BACKGROUND/AIMS: Pseudohypoparathyroidism (PHP) is a rare, genetic disorder. Patients with PHP may have increased prevalence of obstructive sleep apnea (OSA) but this has not been prospectively studied. METHODS: We enrolled children aged 6-18 years with PHP and matched controls. Evaluation included physical examination, medical history, and polysomnography. RESULTS: Fifteen children with PHP type 1A (PHP1A) and 15 controls completed the study...
2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29455208/rhigf-1-treatment-increases-bone-mineral-density-and-trabecular-bone-structure-in-children-with-papp-a2-deficiency
#20
Federico G Hawkins-Carranza, María T Muñoz-Calvo, Gabriel Á Martos-Moreno, Gonzalo Allo-Miguel, Luis Del Río, Jesús Pozo, Julie A Chowen, Luis A Pérez-Jurado, Jesús Argente
AIM: Our objective was to determine changes in bone mineral density (BMD), trabecular bone score (TBS), and body composition after 2 years of therapy with recombinant human insulin-like growth factor-1 (rhIGF-1) in 2 prepubertal children with a complete lack of circulating PAPP-A2 due to a homozygous mutation in PAPP-A2 (p.D643fs25*) resulting in a premature stop codon. METHODS: Body composition, BMD, and bone structure were determined by dual-energy X-ray absorptiometry at baseline and after 1 and 2 years of rhIGF-1 treatment...
2018: Hormone Research in Pædiatrics
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