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    Oxidative stress in adult growth hormone deficiency: different plasma antioxidant patterns in comparison with metabolic syndrome.
    Endocrine 2017 Nov 15. Epub 2017 Nov 15.
    Operative Unit of Endocrinology, Catholic University of the Sacred Heart, Largo A. Gemelli 8, Rome, 00168, Italy.
    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. Read More

    Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
    Hum Genomics 2017 Nov 14;11(1):28. Epub 2017 Nov 14.
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC 03, PO Box 3354, Riyadh, 11211, Saudi Arabia.
    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. Read More

    Pharmacokinetics, Pharmacodynamics, and Safety of a Long-Acting Human Growth Hormone (MOD-4023) in Healthy Japanese and Caucasian Adults.
    Clin Pharmacol Drug Dev 2017 Nov 14. Epub 2017 Nov 14.
    OPKO Biologics, Kiryat Gat, Israel.
    Daily injections of growth hormone (GH) as replacement therapy in GH-deficient (GHD) patients may cause poor compliance and inconvenience. C-terminal peptide-modified human GH (MOD-4023) has been developed for once-weekly administration in GHD adults and children. In the present study, the pharmacokinetics (PK) and pharmacodynamics (PD) of a single subcutaneous dose of MOD-4023 were evaluated in healthy Caucasian and Japanese adults, using a phase 1 double-blind, vehicle-controlled, randomized study design. Read More

    Addressing the post-irradiation hypothalamic-pituitary endocrine abnormalities of brain tumors in pediatric patients.
    J BUON 2017 Sep-Oct;22(5):1240-1245
    University of Thessaly, School of Health Sciences, Faculty of Medicine, Larissa, Greece.
    Purpose: Hypothalamic-pituitary axis is susceptible to radiotherapy, causing endocrine disorders to childhood cancer survivors. We conducted a systematic review in order to assess the radiation-induced toxicity that leads to hormone secretion abnormalities and their severity in children with brain tumors.

    Methods: The data were collected by relevant studies on PubMed and EMBASE. Read More

    Etiologies of short stature in a pediatric endocrine clinic in Southern Thailand.
    J Pediatr Endocrinol Metab 2017 Nov 11. Epub 2017 Nov 11.
    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). Read More

    [Issues related to secondary osteoporosis associated with growth hormone deficiency in adulthood].
    Vnitr Lek 2017 ;63(10):658-661
    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. Read More

    Effects of Growth Hormone Treatment on Lipid Profiles.
    Indian J Pediatr 2017 Nov 11. Epub 2017 Nov 11.
    Department of Pediatrics, National Hospital Organization, Okayama Medical Center, 1711-1 Tamasu, Kita-ku, Okayama, 701-1192, Japan.
    Objectives: To assess the effects of growth hormone (GH) on lipid profiles in children and whether the effect is pharmacological.

    Methods: The authors determined serum levels of total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), non-high-density lipoprotein cholesterol (non-HDL-C), and low-density lipoprotein cholesterol (LDL-C) every year during 3-y GH treatment in 48 GH deficient (GHD) short children and 22 children with short stature born small for gestational age (SGA).

    Results: The abnormally high levels of TC, non-HDL-C, and LDL-C showed a high frequency in GHD short children compared with epidemiological studies in Japan. Read More

    Effects of growth hormone-releasing hormone gene targeted ablation on ghrelin-induced feeding.
    Growth Horm IGF Res 2017 Nov 6;37:40-46. Epub 2017 Nov 6.
    Department of Pharmacy, G. d'Annunzio University, Chieti, Italy.
    Impairment of growth hormone (GH) signaling has been associated with increased feeding and adiposity. The gastric hormone ghrelin, in addition to its GH-secretagogue effects, stimulates food intake after both central and peripheral administration. In the present study we further investigated the feeding regulatory role of the ghrelin-GH axis in a mouse model of isolated GH deficiency due to targeted ablation of the GH-releasing hormone (GHRH) gene [GHRH knockout (GHRHKO)]. Read More

    Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency.
    Growth Horm IGF Res 2017 Oct 19;37:19-25. Epub 2017 Oct 19.
    Developmental Endocrinology Research Group, UCL Institute of Child Health and Department of Endocrinology, Great Ormond Street Hospital for Children, WC1N 1EH, London, UK. Electronic address:
    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. Read More

    The Hypothalamic-Pituitary Axis and Autoantibody Related Disorders.
    Int J Mol Sci 2017 Nov 3;18(11). Epub 2017 Nov 3.
    Department of Biomedical Sciences, University of Cagliari, 09042 Monserrato, Cagliari, Italy.
    This review summarized different studies reporting the presence of autoantibodies reacting against cells of the pituitary (APAs) and/or hypothalamus (AHAs). Both APAs and AHAs have been revealed through immunofluorescence using different kinds of substrates. Autoantibodies against gonadotropic cells were mainly found in patients affected by cryptorchidism and hypogonadotropic hypogonadism while those against prolactin cells were found in different kinds of patients, the majority without pituitary abnormalities. Read More

    Deregulation of the growth hormone/insulin-like growth factor-1 axis in adults with cystic fibrosis.
    J Endocrinol Invest 2017 Nov 2. Epub 2017 Nov 2.
    Section of Medical Pathophysiology, Endocrinology, Department Experimental Medicine, Sapienza University, 00161, Rome, Italy.
    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. Read More

    Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
    Nat Commun 2017 Nov 3;8(1):1289. Epub 2017 Nov 3.
    Faculty of Medicine, Department of Physiology, University of Helsinki, 00014, Helsinki, Finland.
    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. Read More

    Pituitary insufficiency following traumatic thoracic injury in an adolescent male patient: A case report and literature review.
    Medicine (Baltimore) 2017 Nov;96(44):e8406
    aDepartment of Endocrinology, Jagiellonian University Medical College bDepartment of Endocrinology, University Hospital, Kraków, Poland.
    Rationale: Traumatic thoracic injuries in adolescents are rare but could be connected with traumatic brain injuries (TBI) and development of chronic hypopituitarism. Early recognition of these endocrine problems is a significant challenge to clinicians. We present difficulties in diagnosis of hypothalamic-pituitary insufficiency following traumatic thoracic injury in adolescence. Read More

    Retinal neural and vascular structure in isolated growth hormone deficiency children and evaluation of growth hormone treatment effect on retina.
    J Clin Res Pediatr Endocrinol 2017 Oct 30. Epub 2017 Oct 30.
    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) . Read More

    A first description of the Colombian national registry for rare diseases.
    BMC Res Notes 2017 Oct 26;10(1):514. Epub 2017 Oct 26.
    Center For Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 No. 63C-69, Bogotá, Colombia.
    Objective: Orphan diseases must be considered a public health concern, underlying country-specific challenges for their accurate and opportune diagnosis, classification and management. Orphan disease registries have not yet been created in South America, a continent having a population of ~ 415 million inhabitants. In Colombia ~ 3 million of patients are affected by rare diseases. Read More

    Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency.
    Horm Res Paediatr 2017 10 26. Epub 2017 Oct 26.
    Children's Hospital, Department of Pediatrics, University of Bonn, Bonn, Germany.
    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. Read More

    Previously unreported abnormalities in Wolfram Syndrome Type 2.
    Pediatr Endocrinol Diabetes Metab 2017 ;23(2):107-110
    Ph.D. candidate. Department of Molecular Biology. Centre INRS-Institut Armand-Frappier, Laval, Quebec, Canada.
    Wolfram syndrome (WFS) is a rare autosomal recessive disease with non-autoimmune childhood onset insulin dependent diabetes and optic atrophy. WFS type 2 (WFS2) differs from WFS type 1 (WFS1) with upper intestinal ulcers, bleeding tendency and the lack ofdiabetes insipidus. Li-fespan is short due to related comorbidities. Read More

    Effect of growth hormone replacement therapy on plasma diacron-reactive oxygen metabolites and endothelial function in Japanese patients: The GREAT clinical study.
    Endocr J 2017 Oct 25. Epub 2017 Oct 25.
    Department of Endocrinology and Metabolism, Dokkyo Medical University, Mibu, Tochigi 321-0293, Japan.
    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. Read More

    In vitro fertilization-frozen embryo transfer in a patient with cytochrome P450 oxidoreductase deficiency: a case report.
    Gynecol Endocrinol 2017 Oct 26:1-4. Epub 2017 Oct 26.
    a Reproductive Medicine Center, Department of Obstetrics and Gynecology , Nanjing Drum Tower Hospital, The Affiliated Drum Tower Hospital of Nanjing University Medical School , Nanjing , China.
    Cytochrome P450 enzymes are required for the synthesis of cholesterol and steroid hormones. Cytochrome P450 oxidoreductase (POR) donates electrons to microsomal cytochrome P450 enzymes. POR deficiency (PORD) is a rare autosomal recessive disease. Read More

    Two consecutive successful live birth in woman with 17α hydroxylase deficiency by frozen-thaw embryo transfer under hormone replacement endometrium preparation.
    Gynecol Endocrinol 2017 Oct 25:1-4. Epub 2017 Oct 25.
    a Department of Obstetrics and Gynecology , Nagasaki University Graduate School of Biomedical Sciences , Nagasaki , Japan.
    17α-Hydroxylase deficiency is rare autosomal recessive disorder that manifested by hypertension, hypokalemia, delayed sexual development, primary amenorrhea and infertility. The information regarding infertility care and conception in women with this disorder are extremely limited. We report a 24-year-old Japanese woman with primary amenorrhea who was diagnosed as partial 17α-hydroxylase deficiency caused by homozygous 3 bp deletion in exon 1 of 17α-hydroxylase gene. Read More

    Long-Term Safety of Growth Hormone - A Combined Registry Analysis.
    Clin Endocrinol (Oxf) 2017 Oct 21. Epub 2017 Oct 21.
    Hospital for Children and Adolescents, Department of Women and Child Health, University Hospitals, University of Leipzig, Liebigstraße 20a, D-04103, Leipzig, Germany.
    Objectives: Preliminary data from the French cohort of the Safety and Appropriateness of Growth hormone treatments in Europe (SAGhE) study raised concerns regarding the safety of recombinant human GH, suggesting that GH may increase mortality and incidence of stroke in patients treated during childhood for GH deficiency or short stature. We evaluated published safety data, focusing on mortality, neoplasms, cerebrovascular events and diabetes across a number of large-scale pharmaceutical company GH registries.

    Design: A literature review was conducted using PubMed, EMBASE and Google Scholar to identify all relevant safety data from manufacturers' GH registries published between 1988 and April 2016. Read More

    Brain and Hepatic Mt mRNA Is Reduced in Response to Mild Energy Restriction and n-3 Polyunsaturated Fatty Acid Deficiency in Juvenile Rats.
    Nutrients 2017 Oct 19;9(10). Epub 2017 Oct 19.
    USDA Agricultural Research Service Grand Forks Human Nutrition Research Center, Grand Forks, ND 58203, USA.
    Metallothioneins (MTs) perform important regulatory and cytoprotective functions in tissues including the brain. While it is known that energy restriction (ER) and dietary n-3 polyunsaturated fatty acid (PUFA) deficiency impact postnatal brain growth and development, little data exist regarding the impact of undernutrition upon MT expression in growing animals. We tested the hypothesis that ER with and without dietary n-3 PUFA deficiency reduces MT expression in juvenile rats. Read More

    The Effect of Vitamin D Supplementation on Bone Metabolic Markers in Chronic Kidney Disease.
    J Bone Miner Res 2017 Oct 17. Epub 2017 Oct 17.
    Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
    Use of active forms of vitamin D is advocated in patients with chronic kidney disease (CKD) for treatment of mineral bone disease because of the presumption that native forms of vitamin D would not undergo significant activation to calcitriol, the most active biological form of vitamin D. We present secondary analysis looking at bone turnover in subjects who completed the randomized, double blind, placebo-controlled trial investigating the effect of cholecalciferol supplementation on vascular function in nondiabetic CKD stage G3-G4 and vitamin D ≤20 ng/mL (Clinical Trials Registry of India: CTRI/2013/05/003648). Patients were randomized (1:1) to receive either two directly observed oral doses of 300,000 IU of cholecalciferol or matching placebo at baseline and 8 weeks. Read More

    Effects of 1-year growth hormone replacement therapy on thyroid volume and function of the children and adolescents with idiopathic growth hormone deficiency.
    J Pediatr Endocrinol Metab 2017 Oct;30(11):1187-1190
    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. Read More

    Transcriptome and Differential Expression Profiling Analysis of the Mechanism of Ca(2+) Regulation in Peanut (Arachis hypogaea) Pod Development.
    Front Plant Sci 2017 28;8:1609. Epub 2017 Sep 28.
    Biotechnology Research Center, Shandong Academy of Agricultural Sciences, Jinan, China.
    Calcium not only serves as a necessary nutrient for plant growth but also acts as a ubiquitous central hub in a large number of signaling pathways. Free Ca(2+) deficiency in the soil may cause early embryo abortion, which eventually led to abnormal development of peanut pod during the harvest season. To understand the mechanisms of Ca(2+) regulation in pod development, transcriptome analysis of peanut gynophores and pods was performed by comparing the treatments between free Ca(2+) sufficiency and free Ca(2+) deficiency using Illumina HiSeq™ 2000. Read More

    One-year recombinant growth hormone therapy does not improve hemoglobin state and morphology of erythrocytes in growth hormone deficient children.
    Pathophysiology 2017 Oct 7. Epub 2017 Oct 7.
    Endocrinology Research Centre, Department of Paediatric Endocrinology, Moscow, Russian Federation.
    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. Read More

    Vitamin D deficiency is associated with poor breast cancer prognostic features in postmenopausal women.
    J Steroid Biochem Mol Biol 2017 Nov 12;174:284-289. Epub 2017 Oct 12.
    Department of Gynecology and Obstetrics, Botucatu Medical School, Sao Paulo State University-UNESP, Sao Paulo, Brazil. Electronic address:
    This study aimed to evaluate the association between pretreatment vitamin D (VD) deficiency with breast cancer prognostic features in Brazilian postmenopausal women. An analytical cross sectional study was conducted with 192 women, aged 45-75 years, attended at University Hospital. Women with recent diagnosis of breast cancer, in amenorrhea >12months and age ≥45 years, without medication use or clinical conditions that interfere with VD values were included. Read More

    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.
    Endocrine 2017 Oct 13. Epub 2017 Oct 13.
    Massacchusetts General Hospital and Harvard Medical School, Boston, MA, USA.
    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. Read More

    Thyroid hormone metabolism defects in a mouse model of SBP2 deficiency.
    Endocrinology 2017 Sep 28. Epub 2017 Sep 28.
    Department of Medicine, The University of Chicago, Chicago, Illinois 60637, USA.
    SBP2 (selenocysteine insertion sequence binding protein 2) is an essential factor in selenoprotein synthesis. Patients with SBP2 defects have a characteristic thyroid phenotype and additional manifestations such as growth delay, male infertility, impaired motor coordination and developmental delay. The thyroid phenotype has become pathognomonic for this defect and putative deficiencies in the iodothyronine deiodinases selenoenzymes have been implicated. Read More

    Nonalcoholic fatty liver disease in long-term survivors of childhood-onset craniopharyngioma.
    Ann Pediatr Endocrinol Metab 2017 Sep 28;22(3):189-196. Epub 2017 Sep 28.
    Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
    Purpose: Hypothalamic obesity in childhood-onset (CO-) craniopharyngioma patients may predispose to nonalcoholic fatty liver disease (NAFLD). This study reviewed the characteristics of NAFLD associated with CO-craniopharyngioma.

    Methods: This study retrospectively reviewed 75 patients who underwent surgery for craniopharyngioma while younger than 15 years of age between 2000 and 2016. Read More

    Cardiovascular Effects of Renal Distal Tubule Deletion of the FGF Receptor 1 Gene.
    J Am Soc Nephrol 2017 Oct 9. Epub 2017 Oct 9.
    Department of Medicine, University of Tennessee Health Science Center, Memphis, Tennessee;
    The bone-derived hormone fibroblast growth factor-23 (FGF-23) activates complexes composed of FGF receptors (FGFRs), including FGFR1, and α-Klotho in the kidney distal tubule (DT), leading to increased sodium retention and hypertension. However, the role of FGFR1 in regulating renal processes linked to hypertension is unclear. Here, we investigated the effects of selective FGFR1 loss in the DT. Read More

    The prostate response to prolactin modulation in adult castrated rats subjected to testosterone replacement.
    J Mol Histol 2017 Dec 7;48(5-6):403-415. Epub 2017 Oct 7.
    Department of Morphology, Institute of Biosciences, São Paulo State University (UNESP), Botucatu, São Paulo, Brazil.
    Despite the androgenic dependence, other hormones, growth factors, and cytokines are necessary to support prostatic growth and maintain the glandular structure; among them, prolactin is a non-steroidal hormone secreted mainly by the pituitary gland. However, extra-pituitary expression of prolactin, such as in the prostate, has also been demonstrated, highlighting the paracrine and autocrine actions of prolactin within the prostate. Here, we investigated whether prolactin modulation alters ventral prostate (VP) morphophysiology in adult castrated rats. Read More

    Persistent de Quervain tenosynovitis induced by somatotropin treatment.
    J Pediatr Endocrinol Metab 2017 Oct;30(11):1223-1226
    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. Read More

    Neonatal Endocrine Labomas - Pitfalls and Challenges in Reporting Neonatal Hormonal Reports.
    Indian Pediatr 2017 Sep;54(9):757-762
    Division of Endocrinology, Department of Medicine, Gandhi Medical College (GMC) and Hamidia Hospital, Bhopal; and Departments of Endocrinology, *Venkateshwar Hospitals, Dwarka, #Maharaja Agrasen Hospital, and $Kalpravriksh Superspeciality Clinic, Dwarka; New Delhi; India. Correspondence to: Dr. Deep Dutta, Department of Endocrinology, Venkateshwar Hospitals, Sector 18A, Dwarka, New Delhi, India.
    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. Read More

    Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up.
    Mol Genet Metab Rep 2017 Dec 14;13:69-75. Epub 2017 Sep 14.
    Center for Lysosomal Storage Diseases, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.
    Early initiation of enzyme replacement therapy (ERT) has demonstrated clinical benefit in patients with mucopolysaccharidosis type VI (MPS VI), a progressive, multisystem autosomal recessive lysosomal disorder caused by N-acetylgalactosamine-4-sulphatase (ASB) deficiency and the consequent accumulation of glycosaminoglycan. A previous case report highlighted that 3 years of ERT with recombinant human ASB (galsulfase) was well tolerated and effective in two Japanese siblings with MPS VI who initiated ERT at 5.6 years and 6 weeks of age, respectively. Read More

    Children's psychosocial functioning and parents' quality of life in paediatric short stature: The mediating role of caregiving stress.
    Clin Psychol Psychother 2017 Sep 27. Epub 2017 Sep 27.
    Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
    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. The children completed self-report measures of height-related QoL (Quality of Life in Short Stature Youth Core Module) and psychological problems (Strengths and Difficulties Questionnaire); the parents reported on their own QoL (EUROHIS-QOL-8 Index) and caregiving stress (Quality of Life in Short Stature Youth Effects on Parents subscale). Read More

    Endoscopic endonasal approach for craniopharyngioma: the importance of the relationship between pituitary stalk and tumor.
    J Neurosurg 2017 Sep 29:1-9. Epub 2017 Sep 29.
    Departments 1 Neurosurgery and.
    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. Read More

    Gestational Diabetes Mellitus, Fetal Growth and Vitamin D.
    J Bone Metab 2017 Aug 31;24(3):155-159. Epub 2017 Aug 31.
    Department of Internal Medicine, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine, Seoul, Korea.
    Vitamin D is an important secosteroid hormone in skeletal and non-skeletal systems. Vitamin D has relevance to muscle and immune function, hypertension, diabetes mellitus, cancer, and pregnancy because vitamin D receptors (VDR) are present in many non-skeletal tissues. Vitamin D acts on target tissues via the binding of its active form to VDR. Read More

    Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature.
    Case Rep Endocrinol 2017 30;2017:7287351. Epub 2017 Aug 30.
    Division of Pediatric Endocrinology, Department of Pediatrics, Nemours Children's Health System, Jacksonville, FL, USA.
    Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2-15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. Read More

    The rationale and design of TransCon Growth Hormone for the treatment of growth hormone deficiency.
    Endocr Connect 2017 Nov 25;6(8):R171-R181. Epub 2017 Sep 25.
    Ascendis PharmaInc., Palo Alto, California, USA.
    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. Read More

    Growth Hormone Improves Cardiopulmonary Capacity and Body Composition in Children With Growth Hormone Deficiency.
    J Clin Endocrinol Metab 2017 Nov;102(11):4080-4088
    Department of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, Italy.
    Context: Growth hormone deficiency (GHD) in children may be associated with early cardiovascular risk factors and alterations in left ventricular (LV) structure and function; data on cardiopulmonary functional capacity are lacking.

    Objectives: Aim of the study was to evaluate the effect of GHD and growth hormone (GH) therapy on cardiopulmonary functional capacity, left and right cardiac structure and function, and body composition in children and adolescents.

    Design: Prospective, case-control study. Read More

    Transgenic Expression of the Vitamin D Receptor Restricted to the Ileum, Cecum, and Colon of Vitamin D Receptor Knockout Mice Rescues Vitamin D Receptor-Dependent Rickets.
    Endocrinology 2017 Nov;158(11):3792-3804
    Department of Microbiology, Biochemistry and Molecular Genetics, New Jersey Medical School, Rutgers, The State University of New Jersey, Newark, New Jersey 07103.
    Although the intestine plays the major role in 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] action on calcium homeostasis, the mechanisms involved remain incompletely understood. The established model of 1,25(OH)2D3-regulated intestinal calcium absorption postulates a critical role for the duodenum. However, the distal intestine is where 70% to 80% of ingested calcium is absorbed. Read More

    Association Between Vitamin D and Carboxy-Terminal Cross-Linked Telopeptide of Type I Collagen in Children During Growth Hormone Replacement Therapy.
    Adv Exp Med Biol 2017 Sep 22. Epub 2017 Sep 22.
    Department of Paediatrics and Endocrinology, Medical University of Warsaw, 63A Żwirki and Wigury Street, 02-091, Warsaw, Poland.
    Growth hormone and insulin-like growth factor-1 (IGF-1) play a crucial role in the regulation of bone turnover. Adequate vitamin D status supports proper bone remodeling, leading to normal longitudinal bone growth and normal peak bone mass. The aim of this study was to evaluate the association between serum 25-hydroxyvitamin D [25(OH)D] and carboxy-terminal cross-linked telopeptide of type I collagen (ICTP) in children and adolescents with growth hormone deficiency at baseline and during recombinant human growth hormone (rhGH) replacement therapy. Read More

    Bone Status in a Patient with Insulin-Like Growth Factor-1 Receptor Deletion Syndrome: Bone Quality and Structure Evaluation Using Dual-Energy X-Ray Absorptiometry, Peripheral Quantitative Computed Tomography, and Quantitative Ultrasonography.
    Front Endocrinol (Lausanne) 2017 5;8:227. Epub 2017 Sep 5.
    Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, Florence, Italy.
    Haploinsufficiency of the insulin-like growth factor (IGF)-1 receptor (IGF1R) gene is a rare, probably under-diagnosed, cause of short stature. However, the effects of IGF1R haploinsufficiency on glucose metabolism, bone status, and metabolism have rarely been investigated. We report the case of a patient referred to our center at the age of 18 months for short stature, failure to thrive, and Silver-Russell-like phenotype. Read More

    Growth Hormone's Effect on Adipose Tissue: Quality versus Quantity.
    Int J Mol Sci 2017 Jul 26;18(8). Epub 2017 Jul 26.
    The Diabetes Institute at Ohio University, 108 Konneker Research Labs, Ohio University, Athens, OH 45701, USA.
    Obesity is an excessive accumulation or expansion of adipose tissue (AT) due to an increase in either the size and/or number of its characteristic cell type, the adipocyte. As one of the most significant public health problems of our time, obesity and its associated metabolic complications have demanded that attention be given to finding effective therapeutic options aimed at reducing adiposity or the metabolic dysfunction associated with its accumulation. Growth hormone (GH) has therapeutic potential due to its potent lipolytic effect and resultant ability to reduce AT mass while preserving lean body mass. Read More

    Plasminogen Activator Inhibitor Type 1: A Possible Novel Biomarker of Late Pituitary Dysfunction after Mild Traumatic Brain Injury.
    J Neurotrauma 2017 Nov 1. Epub 2017 Nov 1.
    2 Division of Endocrinology, Department of Medicine, Faculty of Medicine, Faculty of Medicine, University of Debrecen , Debrecen, Hungary .
    More than 80% of traumatic brain injury (TBI) patients suffer from mild TBI (mTBI). However, even mTBI carries the risk of late pituitary dysfunction. A predictive biomarker at the time of injury that could identify patients who subsequently may develop permanent pituitary dysfunction would help to direct patients toward endocrine care. Read More

    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.
    Horm Res Paediatr 2017 Sep 19. Epub 2017 Sep 19.
    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. Read More

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