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"Growth Hormone Deficiency"

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https://www.readbyqxmd.com/read/29147571/a-surprising-treatment-response-in-a-patient-with-rare-isolated-growth-hormone-deficiency-type-ib
#1
Jordan Yardain Amar, Kimberly Borden, Elizabeth Watson, Talin Arslanian
Isolated Growth Hormone Deficiency (IGHD) is a rare cause of short stature, treated with the standard regimen of subcutaneous synthetic growth hormone (GH). Patients typically achieve a maximum height velocity in the first year of treatment, which then tapers shortly after treatment is stopped. We report a case of a 9-year-old male who presented with short stature (<3rd percentile for age and race). Basal hormone levels showed undetectable serum IGF1. Skeletal wrist age was consistent with chronologic age...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29144802/lipid-accumulation-product-visceral-adiposity-index-and-chinese-visceral-adiposity-index-as-markers-of-cardiometabolic-risk-in-adult-growth-hormone-deficiency-patients-a-cross-sectional-study
#2
Xin Xie, Qing Li, Lingmin Zhang, Wei Ren
OBJECTIVE: Adult growth hormone deficiency (AGHD) is associated with cardiometabolic risk factors. Given that cardiovascular disease (CVD) is an important cause of morbidity and mortality in the AGHD population, there is a need for alternative, non-invasive methods of assessing cardiometabolic risk in this population. Chinese visceral adiposity index (CVAI) is a new marker of visceral fat dysfunction that is based on age, body mass index (BMI), waist circumference (WC) and metabolic parameters...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29143180/oxidative-stress-in-adult-growth-hormone-deficiency-different-plasma-antioxidant-patterns-in-comparison-with-metabolic-syndrome
#3
Antonio Mancini, Chantal Di Segni, Carmine Bruno, Giulio Olivieri, Francesco Guidi, Andrea Silvestrini, Elisabetta Meucci, Patrick Orlando, Sonia Silvestri, Luca Tiano, Alfredo Pontecorvi
BACKGROUND AND AIMS: Growth hormone deficiency (GHD) is a condition associated with increased cardiovascular risk and insulin-resistance. Oxidative stress (OS) could be a mechanism underlying both these phenomena. In order to investigate plasma antioxidant defenses in such condition, we evaluated adults with GHD, compared with controls and metabolic syndrome patients (MetS), studying plasma total antioxidant capacity (TAC) and coenzyme Q10 (CoQ10, lipophilic antioxidant) levels, both in its oxidized and reduced forms, correlating this data with metabolic and hormonal pattern...
November 15, 2017: Endocrine
https://www.readbyqxmd.com/read/29137650/recessive-vars2-mutation-underlies-a-novel-syndrome-with-epilepsy-mental-retardation-short-stature-growth-hormone-deficiency-and-hypogonadism
#4
Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, Dyala Jaroudi, Faisal BinHumaid, Brian F Meyer, Stefan T Arold, Dorota Monies
BACKGROUND: Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency...
November 14, 2017: Human Genomics
https://www.readbyqxmd.com/read/29127766/etiologies-of-short-stature-in-a-pediatric-endocrine-clinic-in-southern-thailand
#5
Tansit Saengkaew, Edward McNeil, Somchit Jaruratanasirikul
BACKGROUND: Short stature is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of short stature vary and are commonly grouped into pathological and non-pathological disorders. The objective of the study was to determine the etiologies and describe the characteristics of short stature patients who attended the Pediatric Endocrinology Clinic and to compare factors between normal variant short stature (NVSS) and growth hormone deficiency (GHD)...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29127748/-issues-related-to-secondary-osteoporosis-associated-with-growth-hormone-deficiency-in-adulthood
#6
Martin Kužma, Peter Jackuliak, Zdenko Killinger, Peter Vaňuga, Juraj Payer
Growth hormone (GH) increases linear bone growth through complex hormonal reactions, mainly mediated by insulin like growth factor 1 (IGF1) that is produced mostly by hepatocytes under influence of GH and stimulates differentiation of epiphyseal prechondrocytes. IGF1 and GH play a key role in the linear bone growth after birth and regulation of bone remodelation during the entire lifespan. It is known that adult GH deficient (GHD) patients have decreased BMD and increased risk of low-impact fractures. Most data gathered thus far on the effect of GH replacement on bone status comprise the measurement of quantitative changes of bone mass...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29107171/progression-from-isolated-growth-hormone-deficiency-to-combined-pituitary-hormone-deficiency
#7
REVIEW
Manuela Cerbone, Mehul T Dattani
Growth hormone deficiency (GHD) can present at any time of life from the neonatal period to adulthood, as a result of congenital or acquired insults. It can present as an isolated problem (IGHD) or in combination with other pituitary hormone deficiencies (CPHD). Pituitary deficits can evolve at any time from GHD diagnosis. The number, severity and timing of occurrence of additional endocrinopathies are highly variable. The risk of progression from IGHD to CPHD in children varies depending on the etiology (idiopathic vs organic)...
October 19, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29098662/deregulation-of-the-growth-hormone-insulin-like-growth-factor-1-axis-in-adults-with-cystic-fibrosis
#8
C Pascucci, R V De Biase, D Savi, S Quattrucci, A M Isidori, C Lubrano, L Gnessi, A Lenzi
PURPOSE: Patients with cystic fibrosis (CF) present with signs and symptoms that overlap with those of adult growth hormone deficiency (GHD) syndrome: loss of muscle mass, bone fragility and lower stress tolerance. In literature, the prevalence of GHD in pediatric CF patients is higher than general population, but these studies have been performed on children with growth delay. To our knowledge, there are no studies on adult patients. The aim of this paper is to evaluate GH-IGF1 axis in an adult CF population...
November 2, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29097701/two-missense-mutations-in-kcnq1-cause-pituitary-hormone-deficiency-and-maternally-inherited-gingival-fibromatosis
#9
Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena-Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen-Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L Andoniadou, Joel A Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio
Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosis. We report that patients from three unrelated families harbor either of two missense mutations, c.347G>T p.(Arg116Leu) or c.1106C>T p.(Pro369Leu), in KCNQ1, a gene previously implicated in the long QT interval syndrome. Kcnq1 is expressed in hypothalamic GHRH neurons and pituitary somatotropes...
November 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/29082892/retinal-neural-and-vascular-structure-in-isolated-growth-hormone-deficiency-children-and-evaluation-of-growth-hormone-treatment-effect-on-retina
#10
Özge Yüce, Nuriye Gökçen Yalçın, Aysun Bideci, Esra Döğer, Hamdi Cihan Emeksiz, Murat Hasanreisoğlu, Zeynep Aktaş, Orhun Çamurdan, Peyami Cinaz
OBJECTIVE: Our aim was to evaluate neural and vascular retinal morphology of children with isolated growth hormone deficiency (GHD) and to determine any retinal changes of GH treatment. METHODS: Twenty-eight children with isolated GHD and 53 age-, gender- and body mass index-matched healthy volunteers were enrolled in this prospective study. The retinal nerve fibre layer(RNFL), macular thickness(MT) were measured, as well as intraocular pressure(IOP) . The number of retinal vascular branching points were calculated...
October 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29070768/effect-of-growth-hormone-replacement-therapy-on-plasma-diacron-reactive-oxygen-metabolites-and-endothelial-function-in-japanese-patients-the-great-clinical-study
#11
Kunihiro Suzuki, Kazunori Yanagi, Masanori Shimizu, Sho Wakamatsu, Takafumi Niitani, Soichiro Hosonuma, Masaaki Sagara, Yoshimasa Aso
Patients with growth hormone deficiency (GHD) have an increased risk of atherosclerosis and vascular mortality. Evidence suggests that endothelial dysfunction is involved in all stages of atherogenesis. This study examined the effect of growth hormone (GH) replacement therapy on diacron-reactive oxygen metabolites (d-ROMs) and endothelial function in Japanese patients with GHD, using peripheral arterial tonometry. This was an open-label, prospective, case-control study. Nine patients with GHD who had not previously received any GH replacement therapy were enrolled...
October 25, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/29040069/effects-of-1-year-growth-hormone-replacement-therapy-on-thyroid-volume-and-function-of-the-children-and-adolescents-with-idiopathic-growth-hormone-deficiency
#12
Meliksah Keskin, Elvan Bayramoglu, Zehra Aycan
BACKGROUND: There are different opinions about the effects of growth hormone replacement therapy (GHRT) on thyroid function and volume. This study aimed to assess the effects of GHRT on thyroid volume and function in the children and adolescents with growth hormone (GH) deficiency. METHODS: A total of 29 patients diagnosed with GH deficiency were enrolled in the study. The control group consisted of 29 cases matched for age, gender and pubertal period with the patients...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29033135/one-year-recombinant-growth-hormone-therapy-does-not-improve-hemoglobin-state-and-morphology-of-erythrocytes-in-growth-hormone-deficient-children
#13
Maria Pankratova, Alexander Yusipovich, Maria Vorontsova, Evgenia Parshina, Svetlana Bochkareva, Alexander Cherkashin, Adil Baizhumanov, Margarita Silicheva, Tatyana Shiryaeva, Georgy Maksimov, Valentina Peterkova
An increase in growth rates of children suffering from growth hormone deficiency (GHD) subjected to recombinant growth hormone treatment (rGHT) was shown to be accompanied by acceleration of metabolic processes that may stimulate oxygen consumption in various organs and tissues. Therefore, oxygen-transporting properties of RBC should undergo considerable changes during the rGHT. The aim of this study was to examine the effects of rGHT on erythrocyte shape and hemoglobin state in GHD children. The level of oxyhemoglobin (Oxy-Hb) in RBC was analyzed by Raman spectroscopy...
October 7, 2017: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://www.readbyqxmd.com/read/29030774/effects-of-growth-hormone-therapy-on-bone-density-and-fracture-risk-in-age-related-osteoporosis-in-the-absence-of-growth-hormone-deficiency-a-systematic-review-and-meta-analysis
#14
Maya Barake, Asma Arabi, Nancy Nakhoul, Ghada El-Hajj Fuleihan, Sarah El Ghandour, Anne Klibanski, Nicholas A Tritos
PURPOSE: In adults, growth hormone deficiency (GHD) has been associated with low bone mineral density (BMD), an effect counteracted by growth hormone (GH) replacement. Whether GH is beneficial in adults with age-related bone loss and without hypopituitarism is unclear. METHODS: We conducted a systematic literature search using Medline, Embase and the Cochrane Register of Controlled Trials. We extracted and analyzed data according to the bone outcome included [bone mineral content (BMC), BMD, and bone biomarker, fracture risk]...
October 13, 2017: Endocrine
https://www.readbyqxmd.com/read/29025200/novel-genetic-cause-of-idiopathic-short-stature
#15
REVIEW
Min Jae Kang
Traditionally, the growth hormone - insulin-like growth factor I (GH - IGF-I) axis is the most important signaling pathway in linear growth, and defects in this axis present as growth hormone deficiencies or IGF-I deficiencies. However, subtle changes in serum levels of GH or IGF-I, caused by gene mutations involved in the GH - IGF-I axis, can present as idiopathic short stature (ISS). This paper briefly discusses GHR and IGFALS. In addition, recent studies have shown that many factors, including paracrine signals, extracellular matrix, and intracellular mechanisms of chondrocytes, regulate the growth plate independent of the GH - IGF-I system...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28988225/persistent-de-quervain-tenosynovitis-induced-by-somatotropin-treatment
#16
Ozan Volkan Yurdakul, Lütfiye Aytüre, Ebru Yilmaz Yalçinkaya
BACKGROUND: Growth hormone deficiency is a well-known clinical entity that is usually treated with somatotropin (growth hormone). Growth hormone has some frequent side effects such as intracranial hypertension, lymphedema and diabetes mellitus. CASE PRESENTATION: We report the case of a 14-year-old girl with a history of wrist pain and clumsiness. Magnetic resonance imaging revealed de Quervain tenosynovitis. The patient had a history of using growth hormones for 12 months...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28984256/neonatal-endocrine-labomas-pitfalls-and-challenges-in-reporting-neonatal-hormonal-reports
#17
Sachin Chittawar, Deep Dutta, Deepak Khandelwal, Rajiv Singla
This review highlights pitfalls and challenges in interpreting neonatal hormone reports. Pre-analytical errors contribute to nearly 50% of all errors. Modern chemiluminescence assay are more accurate, have lower risk of Hook's effect, but continue to have problems of assay interference. Liquid chromatography mass spectroscopy is gold standard for most hormone assays. Neonatal hypoglycemia diagnostic cut-offs are lower than adults. Random growth hormone testing is of value in diagnosing growth hormone deficiency in neonates...
September 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28960605/children-s-psychosocial-functioning-and-parents-quality-of-life-in-paediatric-short-stature-the-mediating-role-of-caregiving-stress
#18
Neuza Silva, Monika Bullinger, Rachel Sommer, Anja Rohenkohl, Stefanie Witt, Julia Quitmann
OBJECTIVES: On the basis of the multidimensional model of the caregiving process, this study aimed (a) to compare the levels of quality of life (QoL) and psychological problems of children with short stature and the levels of caregiving stress and QoL of their parents, between diagnostic, treatment, and current height deviation groups, and (b) to examine the direct and indirect links, via caregiving stress, between children's psychosocial functioning and their parents' QoL. METHOD: The sample was collected in 5 European countries and comprised 238 dyads of 8- to 18-year-old children and adolescents with a clinical diagnosis of growth hormone deficiency or idiopathic short stature and one of their parents...
September 27, 2017: Clinical Psychology & Psychotherapy
https://www.readbyqxmd.com/read/28960155/endoscopic-endonasal-approach-for-craniopharyngioma-the-importance-of-the-relationship-between-pituitary-stalk-and-tumor
#19
Yun-Sik Dho, Yong Hwy Kim, Young-Bem Se, Doo Hee Han, Jung Hee Kim, Chul-Kee Park, Kyu-Chang Wang, Dong Gyu Kim
OBJECTIVE The endoscopic endonasal approach (EEA) is commonly used for the treatment of craniopharyngioma; therefore, it is essential to analyze outcomes in order to understand the benefits and drawbacks. The goal of this paper was to evaluate the clinical features and outcomes associated with this treatment approach. METHODS From July 2010 to March 2016, 82 adult craniopharyngioma patients underwent an EEA at the authors' institution. Of these cases, intraoperative records and immediate postoperative MR images were available for 68 patients...
September 29, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28947559/the-rationale-and-design-of-transcon-growth-hormone-for-the-treatment-of-growth-hormone-deficiency
#20
REVIEW
Kennett Sprogøe, Eva Mortensen, David B Karpf, Jonathan A Leff
The fundamental challenge of developing a long-acting growth hormone (LAGH) is to create a more convenient growth hormone (GH) dosing profile while retaining the excellent safety, efficacy and tolerability of daily GH. With GH receptors on virtually all cells, replacement therapy should achieve the same tissue distribution and effects of daily (and endogenous) GH while maintaining levels of GH and resulting IGF-1 within the physiologic range. To date, only two LAGHs have gained the approval of either the Food and Drug Administration (FDA) or the European Medicines Agency (EMA); both released unmodified GH, thus presumably replicating distribution and pharmacological actions of daily GH...
November 2017: Endocrine Connections
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