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    Endoplasmic Reticulum (ER) Stress and Endocrine Disorders.
    Int J Mol Sci 2017 Feb 11;18(2). Epub 2017 Feb 11.
    Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo 183-8561, Japan.
    The endoplasmic reticulum (ER) is the organelle where secretory and membrane proteins are synthesized and folded. Unfolded proteins that are retained within the ER can cause ER stress. Eukaryotic cells have a defense system called the "unfolded protein response" (UPR), which protects cells from ER stress. Read More

    Growth hormone modulates in vitro endothelial cell migration and formation of capillary-like structures.
    Cell Biol Int 2017 Feb 16. Epub 2017 Feb 16.
    Laboratory of Cell Biology, Institute of Biology and Health Science, Federal University of Alagoas, Maceió, Alagoas, Brazil.
    The generation of new blood vessels is a complex process mediated by a variety of growth factors, and the growth hormone (GH) has been shown to act as a proangiogenic factor. In fact, human GH deficiency or excess are associated with endothelial dysfunction. Moreover, mouse models have revealed the action of GH in both tissue repair and in the microvascular circulation of normal tissues. Read More

    Growth Hormone Deficiency in Children.
    J Clin Endocrinol Metab 2011 Dec;96(12):A35
    For more information on how to find an endocrinologist, download free publications, translate this fact sheet into other languages, or make a contribution to The Hormone Foundation, visit www.hormone.org or call 1-800-HORMONE (1-800-467-6663). The Hormone Foundation, the public education affiliate of The Endocrine Society (www.endo-society.org), serves as a resource for the public by promoting the prevention, treatment, and cure of hormone-related conditions. The development of this fact sheet was supported by educational grants from Genentech, Inc.; Lilly USA, LLC; and Pfizer, Inc. This page may be reproduced non-commercially by health care professionals and health educators to share with patients and students.


    Consequences of Growth Hormone Deficiency on Cardiac Structure, Function, and β-Adrenergic Pathway: Studies in Mutant Dwarf Rats.
    Endocrinology 1997 Dec;138(12):5161-5169
    Charles A. Dana Research Institute and the Harvard-Thorndike Laboratory, Cardiovascular Division, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School (A.C., H.S., J.D.G., S.E.K., J.P.M., P.S.D.), Boston, Massachusetts 02215.

    A phase 2 trial of long-acting TransCon growth hormone in adult GH deficiency.
    Endocr Connect 2017 Feb 14. Epub 2017 Feb 14.
    M Beckert, Tuborg Boulevard 5, 1, Ascendis Pharma A/S, Hellerup, Denmark.
    TransCon growth hormone is a sustained release human growth hormone prodrug in development in which unmodified growth hormone is transiently linked to a carrier molecule. It is intended as an alternative to daily growth hormone in the treatment of growth hormone deficiency. This was a multi-center, randomized, open-label, active-controlled trial designed to compare the safety (including tolerability and immunogenicity), pharmacokinetics, and pharmacodynamics of three doses of weekly TransCon GH to daily growth hormone (Omnitrope). Read More

    Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism.
    Clin Genet 2017 Feb 14. Epub 2017 Feb 14.
    Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland.
    Neonatal micropenis and cryptorchidism raise the suspicion of congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder caused by GnRH deficiency. Low plasma testosterone levels and low gonadotropins during minipuberty provide a clinical diagnostic clue, yet these tests are seldomly performed in general practice. We report a male neonate with no family history of reproductive disorders who was born with micropenis and cryptorchidism. Read More

    MANAGEMENT OF ENDOCRINE DISEASE: Neuroendocrine surveillance and management of neurosurgical patients (non-pituitary).
    Eur J Endocrinol 2017 Feb 13. Epub 2017 Feb 13.
    C Thompson, Academic Department of Diabetes and Endocrinology, Beaumont Hospital/RCSI Medical School, Dublin 9, D9, Ireland
    Advances in the management of traumatic brain injury, subarachnoid haemorrhage and intracranial tumours have led to improved survival rates and an increased focus on quality of life of survivors. Endocrine sequelae of the acute brain insult and subsequent neurosurgery, peri-operative fluid administration and/or cranial irradiation are now well described. Unrecognized acute hypopituitarism, particularly ACTH/cortisol deficiency and diabetes insipidus, can be life-threatening. Read More

    A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.
    Am J Med Genet A 2017 Feb 12. Epub 2017 Feb 12.
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
    Germline or somatic gain-of-function mutations in the v-akt murine thymoma viral oncogene homolog 3 (AKT3) have been reported to cause syndromic megalencephaly. We describe a novel germline mutation, p.Glu40Lys, in AKT3. Read More

    Thyroid disorders in polycystic ovary syndrome.
    Eur Rev Med Pharmacol Sci 2017 Jan;21(2):346-360
    Department of Gynaecological Endocrinology, Medical Faculty in Katowice, Medical University of Silesia, Katowice, Poland.
    Objective: Thyroid disorders, especially Hashimoto's thyroiditis (HT), are observed significantly more often in patients with polycystic ovary syndrome (PCOS) than in the general population - approximately 27% and 8%, respectively. This is extremely important in young women, because both disorders are connected with fertility problems. As HT and PCOS occur together, fertility problems may become a serious clinical issue in these patients. Read More

    Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report.
    Ann Pediatr Endocrinol Metab 2016 Dec 31;21(4):240-244. Epub 2016 Dec 31.
    Department of Pathology, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
    A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog's diagnostic criteria. Café-au-lait spots were found on the left side of her trunk. Read More

    Long-term safety and efficacy of Omnitrope(®) in adults with growth hormone deficiency: Italian interim analysis of the PATRO Adults study.
    J Endocrinol Invest 2017 Feb 4. Epub 2017 Feb 4.
    Endocrinology and Diabetology Unit, Medical Sciences Department, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
    Purpose: To report the long-term effectiveness and safety of the recombinant human growth hormone Omnitrope(®), a somatropin biosimilar to Genotropin(®), in Italian patients with growth hormone deficiency (GHD) enrolled in the PATRO Adults study.

    Methods: The PATRO Adults study is an ongoing observational, longitudinal, non-interventional global post-marketing surveillance study, conducted in several European countries. The primary endpoint is long-term safety; secondary endpoints include the effectiveness of Omnitrope(®), which was assessed using serum insulin-like growth factor-1 levels, body composition, bone mineral density and lipid levels. Read More

    Treatment of Pre-pubertal Patients with Growth Hormone Deficiency: Patterns in Growth Hormone Dosage and IGF-I Z-scores.
    J Clin Res Pediatr Endocrinol 2017 Feb 2. Epub 2017 Feb 2.
    Objective: To describe the range of IGF-Iz and GH dose adjustments in pre-pubertal patients with GH deficiency (GHD) treated with GH in a single tertiary care center.

    Methods: Retrospective review of GH-treated patients age <9 years with GHD, seen in endocrinology clinic 2013-2014. Patient demographics and pre-treatment anthropometrics, GH treatment duration, IGF-Iz, and GH dosage (mg/kg/week) were extracted. Read More

    Effect of Vitamin D3 on Biosynthesis of Estrogen in Porcine Granulosa Cells via Modulation of Steroidogenic Enzymes.
    Toxicol Res 2017 Jan 15;33(1):49-54. Epub 2017 Jan 15.
    Department of Biomaterials Science, College of Natural Resources & Life Science, Pusan National University, Miryang, Korea.
    Vitamin D3 is a fat-soluble secosteroid responsible for enhancing intestinal absorption of calcium, iron, and other materials. Vitamin D3 deficiency, therefore, can cause health problems such as metabolic diseases, and bone disorder. Female sex hormones including estrogen and progesterone are biosynthesized mainly in the granulosa cells of ovary. Read More

    Nitric oxide (NO)-mediated mitochondrial damage plays a critical role in T-2 toxin-induced apoptosis and growth hormone deficiency in rat anterior pituitary GH3 cells.
    Food Chem Toxicol 2017 Jan 24;102:11-23. Epub 2017 Jan 24.
    National Reference Laboratory of Veterinary Drug Residues (HZAU) and MAO Key Laboratory for Detection of Veterinary Drug Residues, Huazhong Agricultural University, Wuhan, China; MOA Laboratory for Risk Assessment of Quality and Safety of Livestock and Poultry Products, Wuhan, China; Hubei Collaborative Innovation Center for Animal Nutrition and Feed Safety, Wuhan, China. Electronic address:
    T-2 toxin, a major compound of trichothecenes, induces cell apoptosis and growth hormone (GH) deficiency and causes considerable growth retardation in animals and human cells. However, the mechanism underlying its growth suppression still remains unclear. Recent studies have suggested that ROS induced cell apoptosis and animal feed intake reduction, but there are limited reports on the role of RNS in T-2 toxin-mediated mitochondrial damage, cell apoptosis and growth retardation. Read More

    Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia.
    Pediatrics 2017 Feb;139(2)
    Genetics and Epigenetics in Health and Disease Section, Genetics and Genomic Medicine Programme, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.
    With an estimated prevalence of 1 in 100 000 births, 11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in CYP11B1 Clinical features include virilization, early gonadotropin-independent precocious puberty, hypertension, and reduced stature. The current mainstay of management is with glucocorticoids to replace deficient steroids and to minimize adrenal sex hormone overproduction, thus preventing virilization and optimizing growth. We report a patient with CAH who had been suboptimally treated and presented to us at 6 years of age with precocious puberty, hypertension, tall stature, advanced bone age, and a predicted final height of 150 cm. Read More

    Combined Effects of Gestational Phthalate Exposure and Zinc Deficiency on Steroid Metabolism and Growth.
    Toxicol Sci 2017 Jan 23. Epub 2017 Jan 23.
    Departments of Nutrition and of Environmental Toxicology, University of California, Davis, One Shields Avenue, Davis, CA 95616, USA.
    Disruption of steroid hormone signaling has been implicated independently in the developmental abnormalities resulting from maternal phthalate plasticizer exposure and developmental zinc deficiency. This study investigated if secondary zinc deficiency may result from dietary exposure to a low level of DEHP through gestation and if this could be associated with altered steroid metabolism. The interaction between marginal zinc nutrition and DEHP exposure to affect pregnancy outcome, zinc status, and steroid metabolism was also assessed. Read More

    Neuroendocrine Dysfunction in a Young Athlete With Concussion: A Case Report.
    Clin J Sport Med 2017 Jan 20. Epub 2017 Jan 20.
    *Division of Physical Medicine and Rehabilitation, Department of Clinical Neurosciences, Foothills Medical Centre, University of Calgary, Calgary, AB, Canada; and †Division of Endocrinology, Department of Internal Medicine, University of Calgary, Calgary, AB, Canada.
    An 18-year-old female ringette and basketball player presented to our sport concussion clinic 27 months after concussion with fatigue, headache, exercise intolerance, polyuria, nocturia, and difficulties concentrating. Her history was remarkable for 4 previous concussions. Her neurologic examination was normal. Read More

    Effects of recombinant human growth hormone in the treatment of dwarfism and relationship between IGF-1, IGFBP-3 and thyroid hormone.
    Exp Ther Med 2016 Dec 21;12(6):3579-3582. Epub 2016 Oct 21.
    Department of Pediatrics, Dongying People's Hospital, Dongying, Shandong 257000, P.R. China.
    The effects of recombinant human growth hormone (rhGH) in the treatment of dwarfism and the relationship between insulin-like growth factor (IGF)-1, IGF-binding protein (IGFBP)-3 and thyroid hormone were examined in the present study. For this purpose, 66 patients diagnosed with dwarfism were selected retrospectively, with 36 cases of growth hormone deficiency (GHD) and 30 cases of idiopathic short stature (ISS). The therapeutic dose of GHD 0. Read More

    Cryptochromes regulate IGF-1 production and signaling through control JAK2 dependent STAT5B phosphorylation.
    Mol Biol Cell 2017 Jan 18. Epub 2017 Jan 18.
    Center for Gene Regulation and Health and Disease and BGES Department, Cleveland State University
    Insulin like growth factor (IGF) signaling plays an important role in cell growth and proliferation and implicated in regulation of cancer, metabolism and aging. Here we report that IGF-1 level in blood and IGF-1 signaling demonstrates circadian rhythms. Circadian control occurs through Cryptochromes (CRYs), transcriptional repressors and components of the circadian clock. Read More

    Growth Hormone Deficiency Is Associated with Worse Cardiac Function, Physical Performance, and Outcome in Chronic Heart Failure: Insights from the T.O.S.CA. GHD Study.
    PLoS One 2017 17;12(1):e0170058. Epub 2017 Jan 17.
    Dipartimento di Scienze Mediche Traslazionali, Federico II University, Naples, Italy.
    Background: Although mounting evidence supports the concept that growth hormone (GH) deficiency (GHD) affects cardiovascular function, no study has systematically investigated its prevalence and role in a large cohort of chronic heart failure (CHF) patients. Aim of this study is to assess the prevalence of GHD in mild-to-moderate CHF and to explore clinical and functional correlates of GHD.

    Methods: One-hundred thirty CHF patients underwent GH provocative test with GHRH+arginine and accordingly categorized into GH-deficiency (GHD, n = 88, age = 61. Read More

    Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia.
    J Pediatr Endocrinol Metab 2017 Feb;30(2):247-251
    Background: Glycogen storage disease (GSD) type IX and growth hormone (GH) deficiency cause ketotic hypoglycemia via different mechanisms and are not known to be associated. We describe a patient presenting with severe ketotic hypoglycemia found to have both GSD IX and isolated GH deficiency.

    Case Presentation: A 3-year-and-11-month-old boy with a history of prematurity, autism, developmental delay, seizures, and feeding difficulty was admitted for poor weight gain and symptomatic hypoglycemia. Read More

    Seven cases with Williams-Beuren syndrome: endocrine evaluation and long-term follow-up.
    J Pediatr Endocrinol Metab 2017 Feb;30(2):159-165
    Background: Endocrine evaluation and long-term follow-up of seven (six male) patients with Williams-Beuren syndrome (WBS) are given.

    Method: Data were obtained from patients' medical records. All patients underwent hormonal analyses and four of them underwent oral glucose tolerance test (OGTT). Read More

    Causes of short stature in Pakistani children found at an Endocrine Center.
    Pak J Med Sci 2016 Nov-Dec;32(6):1321-1325
    Prof. Javed Akram, MD, MRCP, FRCP (GLASG), FACP, FACC, FASIM, Shaheed Zulfiqar Ali Bhutto Medical University, PIMS, Islamabad, Pakistan.
    Background And Objective: Short stature is defined as height below 3(rd) centile. Causes of short stature can range from familial, endocrine disorders, chronic diseases to chromosomal disorders. Most common cause in literature being idiopathic short stature. Read More

    Dynamic GnRH and hCG testing: establishment of new diagnostic reference levels.
    Eur J Endocrinol 2017 Apr 11;176(4):379-391. Epub 2017 Jan 11.
    Department of Growth and ReproductionRigshospitalet, University of Copenhagen, Copenhagen, Denmark
    Objective: Gonadotropin-releasing hormone (GnRH) and human chorionic gonadotropin (hCG) stimulation tests may be used to evaluate the pituitary and testicular capacity. Our aim was to evaluate changes in follicular-stimulating hormone (FSH), luteinizing hormone (LH) and testosterone after GnRH and hCG stimulation in healthy men and assess the impact of six single nucleotide polymorphisms on the responses.

    Design: GnRH and hCG stimulation tests were performed on 77 healthy men, 18-40 years (reference group) at a specialized andrology referral center at a university hospital. Read More

    Brain Structure and Function Associated with Younger Adults in Growth Hormone Receptor-Deficient Humans.
    J Neurosci 2017 Feb 10;37(7):1696-1707. Epub 2017 Jan 10.
    Leonard Davis School of Gerontology, University of Southern California, Los Angeles, California 90089,
    Growth hormone receptor deficiency (GHRD) results in short stature, enhanced insulin sensitivity, and low circulating levels of insulin and insulin-like growth factor 1 (IGF-1). Previous studies in mice and humans suggested that GHRD has protective effects against age-related diseases, including cancer and diabetes. Whereas GHRD mice show improved age-dependent cognitive performance, the effect of GHRD on human cognition remains unknown. Read More

    Carotid Intima-Media Thickness in Children Treated with Growth Hormone: A Follow-Up Study over Three Years.
    Horm Res Paediatr 2017 Jan 10. Epub 2017 Jan 10.
    Department of Pediatric Endocrinology, Diabetes and Nutrition Medicine, Vestische Hospital for Children and Adolescents Datteln, University of Witten/Herdecke, Datteln, Germany.
    Background: There is an ongoing discussion whether high doses of growth hormone (GH) may lead to cardiovascular diseases. Therefore, we studied the longitudinal relationships between GH treatment and carotid intima-media thickness (cIMT), which is predictive of the development of atherosclerosis.

    Methods: We measured blood pressure, lipids, hemoglobin HbA1c, IGF-1, IGFBP-3, and cIMT in 28 children treated with supraphysiological doses of GH (mean age 9. Read More

    The Impact of Growth Hormone Therapy on the Apoptosis Assessment in CD34+ Hematopoietic Cells from Children with Growth Hormone Deficiency.
    Int J Mol Sci 2017 Jan 7;18(1). Epub 2017 Jan 7.
    Department of General Pathology, Pomeranian Medical University in Szczecin, 72 Powstancow Wlkp. Street, 70-111 Szczecin, Poland.
    Growth hormone (GH) modulates hematopoietic cell homeostasis and is associated with apoptosis control, but with limited mechanistic insights. Aim of the study was to determine whether GH therapeutic supplementation (GH-TS) could affect apoptosis of CD34+ cells enriched in hematopoietic progenitor cells of GH deficient (GHD) children. CD34+ cells from peripheral blood of 40 GHD children were collected before and in 3rd and 6th month of GH-TS and compared to 60 controls adjusted for bone age, sex, and pubertal development. Read More

    CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
    Am J Med Genet A 2017 Mar 4;173(3):661-666. Epub 2017 Jan 4.
    Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
    Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic "molar tooth sign" on imaging. More than 27 genes are associated with Joubert syndrome, but some patients do not have mutations in any of these genes. Celsr1, Celsr2, and Celsr3 are the mammalian orthologues of the drosophila planar cell polarity protein, flamingo; they play important roles in neural development, including axon guidance, neuronal migration, and cilium polarity. Read More

    Diverse functions of multidrug and toxin extrusion (MATE) transporters in citric acid efflux and metal homeostasis in Medicago truncatula.
    Plant J 2017 Jan 4. Epub 2017 Jan 4.
    National Key Laboratory of Crop Genetic Improvement, Huazhong Agricultural University, Wuhan, 430075, China.
    The MATE transporter family comprises 70 members in the Medicago truncatula genome, and they play seemingly important, yet mostly uncharacterized, physiological functions. Here, we employed bioinformatics and molecular genetics to identify and characterize MATE transporters involved in citric acid export, Al(3+) tolerance and Fe translocation. MtMATE69 is a citric acid transporter induced by Fe-deficiency. Read More

    Chronic Kidney Disease-Mineral Bone Disorder in Korean Patients: a Report from the KoreaN Cohort Study for Outcomes in Patients With Chronic Kidney Disease (KNOW-CKD).
    J Korean Med Sci 2017 Feb;32(2):240-248
    Department of Internal Medicine, Chonnam National University Medical School, Gwangju, Korea.
    This study examined the characteristics of biochemical parameters, bone diseases, and vascular calcification in Korean patients with chronic kidney disease (CKD) not yet on dialysis. Serum levels of fibroblast growth factor 23 (FGF23), intact parathyroid hormone (iPTH), 25-hydroxyvitamin D3 (25D), and 1,25-dihydroxyvitamin D3 (1,25D); lumbar spine, total hip, and femur neck bone mineral densities; and brachial-to-ankle pulse wave velocity (baPWV) representing vascular calcification were measured at baseline for 2,238 CKD patients in the KoreaN Cohort Study for Outcomes in Patients With CKD (KNOW-CKD). Increases in serum FGF23 and iPTH preceded changes in serum calcium and phosphate, similar to Western populations. Read More

    Cardiovascular Risk Factors in Survivors of Childhood Hematopoietic Cell Transplantation Treated with Total Body Irradiation: A Longitudinal Analysis.
    Biol Blood Marrow Transplant 2017 Mar 28;23(3):475-482. Epub 2016 Dec 28.
    Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York.
    Hematopoietic cell transplantation (HCT) survivors treated with total body irradiation (TBI) are known to be at increased risk for the development of cardiovascular risk factors (CVRFs). We sought to characterize the incidence of CVRFs in a TBI-exposed survivor cohort and to describe prognostic indicators of their development through a retrospective analysis of CVRFs in 1-year survivors of leukemia or lymphoma treated with TBI at Memorial Sloan Kettering between April 1987 and May 2011. Eligible participants were age ≤21 years at the time of TBI and were not receiving glucocorticoid therapy at the time of entry to long-term follow-up. Read More

    Stories of experiences of care for growth hormone deficiency: the CRESCERE project.
    Future Sci OA 2016 Mar 25;2(1):FSO82. Epub 2016 Feb 25.
    Italian Association of Families with subjects with a GHD A.Fa.D.O.C., Vicenza, Italy; Italian Association of Families with subjects with a GHD A.Fa.D.O.C., Vicenza, Italy.
    Aims: Growth hormone deficiency therapy is demanding for patients and caregivers. Teams engaged in the clinical management of growth hormone deficiency therapy need to know how families live with this condition, to provide an adequate support and prevent the risk of withdrawal from therapy.

    Methods: Using Narrative Medicine, testimonies from patients, their parents and providers of care were collected from 11 Italian centers. Read More

    Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients.
    Case Rep Pediatr 2016 28;2016:4328492. Epub 2016 Nov 28.
    Departments of Medical Genetics and Pediatrics, University of Calgary, Alberta Children's Hospital, 2888 Shaganappi Trail NW, Calgary, AB, Canada.
    Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland. Read More

    Concomitant occurrence of Turner syndrome and growth hormone deficiency.
    Korean J Pediatr 2016 Nov 30;59(Suppl 1):S121-S124. Epub 2016 Nov 30.
    Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang, Korea.
    Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Read More

    Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader-Willi syndrome.
    Congenit Anom (Kyoto) 2016 Dec 21. Epub 2016 Dec 21.
    Department of Physiology, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan.
    Prader-Will syndrome (PWS) is characterized by hyperphagia, growth hormone deficiency and central hypogonadism caused by the dysfunction of the hypothalamus. Patients with PWS present with methylation abnormalities of the PWS-imprinting control region in chromosome 15q11.2, subject to parent-of-origin-specific methylation and controlling the parent-of-origin-specific expression of other paternally expressed genes flanking the region. Read More

    Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial.
    Horm Res Paediatr 2016 Dec 22. Epub 2016 Dec 22.
    Endocrinology and Diabetes Unit, Eli Lilly, Neuilly-sur-Seine, France.
    Background/aims: To assess auxological and safety data for growth hormone (GH)-treated children with SHOX deficiency.

    Methods: Data were examined for GH-treated SHOX-deficient children (n = 521) from the observational Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS). For patients with near-adult height information, GeNeSIS results (n = 90) were compared with a clinical trial (n = 28) of SHOX-deficient patients. Read More

    Root transcriptome of two contrasting indica rice cultivars uncovers regulators of root development and physiological responses.
    Sci Rep 2016 Dec 21;6:39266. Epub 2016 Dec 21.
    National Institute of Plant Genome Research, Aruna Asaf Ali Marg, New Delhi 110067, India.
    The huge variation in root system architecture (RSA) among different rice (Oryza sativa) cultivars is conferred by their genetic makeup and different growth or climatic conditions. Unlike model plant Arabidopsis, the molecular basis of such variation in RSA is very poorly understood in rice. Cultivars with stable variation are valuable resources for identification of genes involved in RSA and related physiological traits. Read More

    Hypothalamic-Pituitary Axis Dysfunction in Survivors of Childhood CNS Tumors: Importance of Systematic Follow-Up and Early Endocrine Consultation.
    J Clin Oncol 2016 Dec 31;34(36):4315-4319. Epub 2016 Oct 31.
    Wassim Chemaitilly, Gregory T. Armstrong, Amar Gajjar, and Melissa M. Hudson, St Jude Children's Research Hospital, Memphis, TN.
    The Oncology Grand Rounds series is designed to place original reports published in the Journal into clinical context. A case presentation is followed by a description of diagnostic and management challenges, a review of the relevant literature, and a summary of the authors' suggested management approaches. The goal of this series is to help readers better understand how to apply the results of key studies, including those published in Journal of Clinical Oncology, to patients seen in their own clinical practice. Read More

    Prevalence and Risk Factors of Early Endocrine Disorders in Childhood Brain Tumor Survivors: A Nationwide, Multicenter Study.
    J Clin Oncol 2016 Dec 31;34(36):4362-4370. Epub 2016 Oct 31.
    Sarah C. Clement, K. Sen Han, and Hanneke M. van Santen, University Medical Center Utrecht, Utrecht; Sarah C. Clement, Antoinette Y.N. Schouten-van Meeteren, A.S. Paul van Trotsenburg, W. Peter Vandertop, Leontien C.M. Kremer, and Hubert N. Caron, Academic Medical Center, University of Amsterdam; W. Peter Vandertop and Dannis G. van Vuurden, Vrije Universiteit University Medical Center, Amsterdam; Annemieke M. Boot, University Medical Center Groningen, University of Groningen, Groningen; Hedy L. Claahsen-van der Grinten and Geert O. Janssens, Radboud University Nijmegen Medical Center, Nijmegen; Bernd Granzen, Maastricht University Medical Center, Maastricht; and Erna M. Michiels, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.
    Purpose To evaluate the prevalence of, and risk factors for, early endocrine disorders in childhood brain tumor survivors (CBTS). Patients and Methods This nationwide study cohort consisted of 718 CBTS who were diagnosed between 2002 and 2012, and who survived ≥ 2 years after diagnosis. Patients with craniopharyngeoma or a pituitary gland tumor were excluded. Read More

    Enhancing tolerance of rice (Oryza sativa) to simulated acid rain by exogenous abscisic acid.
    Environ Sci Pollut Res Int 2016 Dec 16. Epub 2016 Dec 16.
    State Key Laboratory of Food Science and Technology, Jiangsu Key Laboratory of Anaerobic Biotechnology, College of Environment and Civil Engineering, Jiangnan University, Wuxi, 214122, China.
    Abscisic acid (ABA) regulates much important plant physiological and biochemical processes and induces tolerance to different stresses. Here, we studied the regulation of exogenous ABA on adaptation of rice seedlings to simulated acid rain (SAR) stress by measuring biomass dry weight, stomatal conductance, net photosynthesis rate, nutrient elements, and endogenous hormones. The application of 10 μM ABA alleviated the SAR-induced inhibition on growth, stomatal conductance, net photosynthesis rate, and decreases in contents of nutrient (K, Mg, N, and P) and hormone (auxin, gibberellins, and zeatin). Read More

    Growth hormone/IGF-1 axis longitudinal evaluation in clinically isolated syndrome patients on interferon β-1b therapy: stimulation tests and correlations with clinical and radiological conversion to multiple sclerosis.
    Eur J Neurol 2017 Feb 16;24(2):446-449. Epub 2016 Dec 16.
    Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
    Background And Purpose: Growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis abnormalities in multiple sclerosis (MS) suggest their role in its pathogenesis. Interferon β (IFN-β) efficacy could be mediated also by an increase of IGF-1 levels. A 2-year longitudinal study was performed to estimate the prevalence of GH and/or IGF-1 deficiency in clinically isolated syndrome (CIS) patients and their correlation with conversion to MS in IFN treated patients. Read More

    A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy.
    Arch Endocrinol Metab 2016 Nov-Dec;60(6):596-600. Epub 2016 Aug 25.
    Pós-Graduação em Ciências da Saúde, Centro de Ciências da Saúde, Universidade Estadual de Londrina (UEL), Londrina, PR, Brasil.
    Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. Read More

    A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency.
    Mol Cytogenet 2016 3;9:89. Epub 2016 Dec 3.
    Internal Medicine and Therapeutics Department, Pediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
    Background: Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5-431. Read More

    Social, Educational, and Vocational Outcomes in Patients with Childhood Onset and Young Adult Onset Growth Hormone Deficiency.
    Clin Endocrinol (Oxf) 2016 Dec 15. Epub 2016 Dec 15.
    Department of Endocrinology, Queen Elizabeth Hospital Birmingham, Edgbaston, Birmingham, B15 2TH, UK.
    Objective: Hypopituitarism diagnosed in childhood, adolescence and young adulthood has the potential to affect growth and somatic development. Less is known about the impact of such a diagnosis on other aspects of development.

    Design: An analysis of the KIMS Database (Pfizer International Metabolic Database) was performed to explore social, educational and vocational outcomes of adult patients diagnosed in childhood, adolescence and young adulthood compared with adult-onset controls. Read More

    GH deficiency in adult survivors of childhood cancer.
    Best Pract Res Clin Endocrinol Metab 2016 Dec 17;30(6):795-804. Epub 2016 Nov 17.
    Transition Unit for Childhood Cancer Survivors, Department of Oncology, Città della Salute e della Scienza Hospital, C.so Bramante 88, 10126, Turin, Italy. Electronic address:
    Childhood cancer survivors (CCS) are a fast growing population, but late adverse effects of cancer therapies are not rare. In CCS treated with cranial radiotherapy, growth hormone deficiency (GHD) is a well-known occurrence and the potential impact of GH replacement therapy on the global outcome of CCS is under continuous evaluation. In the present review, we discuss advantages and disadvantages of GH replacement therapy in survivors of pediatric malignancies, taking into consideration the different reasons for treating GHD during childhood or adult life. Read More

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