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    SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.
    Eur J Hum Genet 2018 Jan 12. Epub 2018 Jan 12.
    South West Thames Regional Genetics Unit, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK.
    Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19 weeks gestation. Other foetal growth parameters were normal. Read More

    Congenital Hyperinsulinism and Hypopituitarism Attributable to a Novel Mutation in FOXA2.
    J Clin Endocrinol Metab 2018 Jan 10. Epub 2018 Jan 10.
    Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Context: Persistent hypoglycemia in the newborn period most commonly occurs due to hyperinsulinism. The phenotype of hypoketotic hypoglycemia can also result from pituitary hormone deficiencies, including growth hormone and adrenocorticotropic hormone deficiency. Forkhead box A2 (Foxa2) is a transcription factor shown in mouse models to influence insulin secretion by pancreatic beta cells. Read More

    THE IMPACT OF 12-MONTH GROWTH HORMONE REPLACEMENT THERAPY ON LIPID METABOLISM AND ADIPOSE TISSUE DISTRIBUTION IN GEORGIAN PATIENTS WITH ADULT GROWTH HORMONE DEFICIENCY.
    Georgian Med News 2017 Dec(273):36-41
    Iv. Javakhishvili Tbilisi State University, Department of Clinical Endocrinology; National Institute of Endocrinology", Tbilisi, Georgia.
    Growth hormone deficiency (GHD) is one of the reasons of significant metabolic morbidities inchildren and adults. The aim of our study was to evaluate the impact of growth hormone (GH) replacement therapy on lipid profile and adipose tissue distribution in adults with GHD. Twenty hypopituitary adults, aged 40. Read More

    ENDOMETRIAL POLYPS IN WOMEN OF REPRODUCTIVE AGE: CLINICAL AND PATHOGENE-TIC VARIATIONS.
    Georgian Med News 2017 Dec(273):16-22
    SI "Institute of Pediatrics, Obstetrics and Gynecology NAMS of Ukraine", Endocrine Gynecology Department, Kyiv, Ukraine.
    The aim of the study was to study the relationship between the morphofunctional characteristics of the endometrium, hormonal homeostasis and microbiocenosis of the reproductive system in patients with endometrial polyps. The study involved 130 patients aged 18-35 years: 34 patients with endometrial polyps, 30 patients with micropolyps, 36 patients with endometrial polyps and micropolyps, 30 healthy women of the control group. Hysteroscopy was performed for women who had been suspected for endometrial polyps and who had infertility or repeated recurrent miscarriages. Read More

    Hepcidin deficiency and iron deficiency do not alter tuberculosis susceptibility in a murine M.tb infection model.
    PLoS One 2018 11;13(1):e0191038. Epub 2018 Jan 11.
    Jenner Institute, University of Oxford, Oxford, United Kingdom.
    Tuberculosis (TB), caused by the macrophage-tropic pathogen Mycobacterium tuberculosis (M.tb) is a highly prevalent infectious disease. Since an immune correlate of protection or effective vaccine have yet to be found, continued research into host-pathogen interactions is important. Read More

    A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.
    CEN Case Rep 2018 Jan 9. Epub 2018 Jan 9.
    Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan.
    Glioblastoma 2 (GLI2) is a mediator of Sonic hedgehog signaling pathway that plays an important role in development of the central nervous system and limbs. Heterozygous GLI2 mutations have been associated with postaxial polydactyly, various pituitary dysfunction, and holoprosencephaly-like phenotype. Herein, we report a Japanese boy who presented with isolated growth hormone deficiency with ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal defect, intellectual disability and dysmorphic facial features including mid-facial hypoplasia. Read More

    Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies.
    Case Rep Genet 2017 28;2017:3941483. Epub 2017 Nov 28.
    Institute of Child Health, University of Liverpool, Liverpool, UK.
    B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. We describe for the first time a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism, and congenital heart defects. Read More

    Identification of candidate serum biomarkers of childhood-onset growth hormone deficiency using SWATH-MS and feature selection.
    J Proteomics 2018 Jan 6. Epub 2018 Jan 6.
    Universidad de Córdoba, Córdoba, Spain; GA-05, IMIBIC, Córdoba, Spain.
    A typical clinical manifestation of growth hormone deficiency (GHD) is a short stature resulting from delayed growth, but GHD affects bone health, cardiovascular function and metabolic profile and therefore quality of life. Although early GH treatment during childhood has been shown to improve outcomes, no single biochemical parameter is currently available for the accurate diagnosis of GHD in children. There is hence a need for non-invasive biomarkers. Read More

    Managing Transition in Patients Treated with Growth Hormone.
    Front Endocrinol (Lausanne) 2017 11;8:346. Epub 2017 Dec 11.
    Global Medical Affairs, Merck KGaA, Darmstadt, Germany.
    Growth hormone (GH) promotes growth in children, but is also essential for bone strength, body composition, metabolic factors, such as lipid profile, and maintenance of quality of life. The Merck KGaA (Germany) funded "360° GH in Europe" meeting, held in Lisbon, Portugal, in June 2016, comprised three sessions entitled "Short Stature Diagnosis and Referral," "Optimizing Patient Management and Adherence," and "Managing Transition." The scientific program covered all stages of pediatric GH treatment, and reported here are the outcomes of the third session of the meeting, which considered transition from pediatric GH treatment to teenage and young adult GH therapy. Read More

    Iatrogenic Creutzfeldt-Jakob disease with Amyloid-β pathology: an international study.
    Acta Neuropathol Commun 2018 Jan 8;6(1). Epub 2018 Jan 8.
    Departments of Pathology, Case Western Reserve University, School of Medicine, Cleveland, OH, 44106, USA.
    The presence of pathology related to the deposition of amyloid-β (Aβ) has been recently reported in iatrogenic Creutzfeldt-Jakob disease (iCJD) acquired from inoculation of growth hormone (GH) extracted from human cadaveric pituitary gland or use of cadaveric dura mater (DM) grafts.To investigate this phenomenon further, a cohort of 27 iCJD cases - 21 with adequate number of histopathological sections - originating from Australia, France, Italy, and the Unites States, were examined by immunohistochemistry, amyloid staining, and Western blot analysis of the scrapie prion protein (PrPSc), and compared with age-group matched cases of sporadic CJD (sCJD), Alzheimer disease (AD) or free of neurodegenerative diseases (non-ND).Cases of iCJD and sCJD shared similar profiles of proteinase K-resistant PrPSc with the exception of iCJD harboring the "MMi" phenotype. Read More

    Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion.
    J Pediatr Endocrinol Metab 2018 Jan 8. Epub 2018 Jan 8.
    Interdisciplinary Group for Study of Sex Determination and Differentiation (GIEDDS), School of Medicine, State University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
    Background: Inhibin B is a hormone produced by the Sertoli cells that can provide important information for the investigation of disorders of sex development (DSD) with 46,XY karyotype. The aim of this study is to compare two enzyme-linked immunosorbent assay (ELISA) assays for dosage of serum inhibin B in patients with 46,XY DSD with normal testosterone secretion.

    Methods: Twenty-nine patients with 46,XY DSD and normal testosterone secretion (partial androgen insensitivity syndrome [PAIS] [n=8]; 5α-reductase deficiency [n=7] and idiopathic 46,XY DSD [n=14]) were included. Read More

    Treatment of growth failure in the absence of GH signaling: The Ecuadorian experience.
    Growth Horm IGF Res 2017 Dec 20. Epub 2017 Dec 20.
    Instituto de Endocrinología IEMYR, Quito, Ecuador.
    Recombinant human insulin-like growth factor-1 (rhIGF-1) treatment studies of growth failure in absence of growth hormone (GH) signaling (GH insensitivity -GHI, Laron syndrome -LS, GH Receptor deficiency -GHRD) have taken place in many locations around the globe. Results from these trials are comparable, and slight differences reported can be attributed to specific circumstances at different research sites. rhIGF-I treatment studies of GHI in Ecuador included various trials performed on children belonging to the largest and only homogeneous cohort of subjects with this condition in the world. Read More

    Challenges and future for the delivery of growth hormone therapy.
    Growth Horm IGF Res 2017 Dec 17. Epub 2017 Dec 17.
    Oregon Health and Science University, Portland, OR 97239, United States.
    Growth hormone (GH) has multiple roles in sustaining human development and homeostasis. Its pulsatile secretion stimulates growth and contributes to an equilibrium in a process tightly regulated and coordinated by many organs. GH deficiency is a medical condition affecting all ages, with not only significant consequences in the health of the patient but also impact on the quality of life. Read More

    Prevalence and Etiological Profile of Short Stature among School Children in a South Indian Population.
    Indian J Endocrinol Metab 2017 Nov-Dec;21(6):820-822
    Alpha Hospital and Research Centre, Institute of Diabetes and Endocrinology, Madurai, Tamil Nadu, India.
    Background And Objectives: Short stature (SS) is a common pediatric problem and it might be the first sign of underlying illness. Studies documenting the burden and etiological profile of SS are scarce from India and are mostly limited to data obtained from referral centers. Due to the lack of large-scale, community-based studies utilizing a standard protocol, the present study aimed to assess the prevalence and etiological profile of SS in school children of a South Indian district. Read More

    The Rationale for Growth Hormone Therapy in Children with Short Stature.
    J Clin Res Pediatr Endocrinol 2017 Dec 27;9(Suppl 2):23-32. Epub 2017 Dec 27.
    University of Rome Tor Vergata, Bambino Gesù Children's Hospital, Dipartimento di Pediatria Universitario Ospedaliero, Rome, Italy.
    Growth hormone (GH) was first isolated from cadaver pituitary glands, requiring laborious and expensive collection of glands, followed by extraction and purification of the hormone. This limited supply restricted its use to children with severe GH deficiency who were treated with low dosages and suboptimal schedules. The development of recombinant DNA-derived GH, allowed the production of virtually unlimited amounts of GH, leading to the approval for therapy for a large number of childhood conditions characterized by non-GH deficient short stature. Read More

    Pegvisomant-primed growth hormone (GH) stimulation test is useful in identifying true GH deficient children.
    Hormones (Athens) 2017 Jul;16(3):291-296
    Department of Internal Medicine and Therapeutics, Pediatrics and Adolescentology Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
    Objective: Provocative stimulation tests for growth hormone (GH) assessment have poor reproducibility and can often elicit false positive results in normal children. The aim of our study was to confirm the capability of pegvisomant as an enhancer of GH secretion in unmasking false-positive results in short children (height <-2.0 standard deviation score, SDS) undergoing GH testing. Read More

    Hypothalamic abnormalities: Growth failure due to defects of the GHRH receptor.
    Growth Horm IGF Res 2017 Dec 20. Epub 2017 Dec 20.
    Division of Endocrinology, Department of Medicine, Federal University of Sergipe, 49060-100, Aracaju, Sergipe, Brazil.
    Several acquired or congenital hypothalamic abnormalities may cause growth failure (GF). We described two of these congenital abnormalities. First, a case of CHARGE syndrome, an epigenetic disorder mostly caused by heterozygous mutations in the gene encoding CHD7, a chromatin remodeling protein, causing several malformations, some life-threatening, with additional secondary hypothalamus-hypophyseal dysfunction, including GF. Read More

    Comparison between euglycemic hyperinsulinemic clamp and surrogate indices of insulin sensitivity in children with growth hormone deficiency.
    Growth Horm IGF Res 2017 Dec 13. Epub 2017 Dec 13.
    Section of Endocrinology, Biomedical Department of Internal and Specialist Medicine (DIBIMIS), University of Palermo, Piazza delle Cliniche 2, 90127 Palermo, Italy. Electronic address:
    Objective: Data about the impact of growth hormone treatment (GHT) on insulin sensitivity in children are quite controversial, due to the different surrogate indices that have been used.

    Design: We evaluated insulin sensitivity through the euglycemic hyperinsulinemic clamp, considered the gold standard technique, in 23 children affected by growth hormone deficiency (GHD) at baseline and after 12months of GHT and in 12 controls with short stature at baseline, and we compared the clamp-derived index (M-value) with the most commonly used surrogate index of insulin sensitivity, as ISI Matsuda, and with circulating plasma markers of insulin sensitivity, as adiponectin and resistin levels.

    Results: At baseline, no significant difference in all metabolic parameters between GHD children and control subjects was found. Read More

    Effects of growth hormone on thyroid function are mediated by type 2 iodothyronine deiodinase in humans.
    Endocrine 2017 Dec 22. Epub 2017 Dec 22.
    Department of Diabetes, Endocrinology and Nutrition, Kyoto University Graduate School of Medicine, 54 Kawaharacho, Shogoin, Sakyo-ku, Kyoto, 606-8507, Japan.
    Purpose: Growth hormone (GH) therapy in adults alters thyroid function, and acromegaly often involves thyroid disease. The present study aimed to elucidate roles and mechanisms of GH in regulating thyroid function.

    Methods: We performed two retrospective observational studies, which focused on consecutive patients with severe adult GH deficiency who received recombinant human GH (rhGH) therapy (n = 20) and consecutive patients with acromegaly who underwent transsphenoidal surgery (TSS) (n = 25). Read More

    A first-in-man phase 1 trial for long-acting TransCon Growth Hormone.
    Growth Horm IGF Res 2017 Dec 5. Epub 2017 Dec 5.
    Ascendis Pharma A/S, Denmark.
    TransCon growth hormone (GH) is a sustained-release inactive prodrug consisting of unmodified GH transiently bound to an inert carrier molecule designed to release fully active GH over a one-week period. This was a first-in-man phase 1 randomized trial was to evaluate the safety, tolerability, immunogenicity, pharmacokinetics (PK), and pharmacodynamics (PD) of a single dose of TransCon GH as compared to equivalent doses of daily GH (Omnitrope) or placebo in healthy adults. Forty-four healthy male adults were randomized to 4 cohorts of 11 subjects, distributed in a 7:2:2 ratio (TransCon GH: Omnitrope: placebo). Read More

    Effects of Single Vitamin D₃ Injection (200,000 Units) on Serum Fibroblast Growth Factor 23 and Sclerostin Levels in Subjects with Vitamin D Deficiency.
    Endocrinol Metab (Seoul) 2017 Dec;32(4):451-459
    Brain Korea 21 PLUS Project for Medical Science, Yonsei University, Seoul, Korea.
    Background: Vitamin D deficiency remains common in all age groups and affects skeletal and non-skeletal health. Fibroblast growth factor 23 is a bone-derived hormone that regulates phosphate and 1,25-dihydroxyvitamin D homeostasis as a counter regulatory factor. 1,25-Dihydroxyvitamin D stimulates fibroblast growth factor 23 synthesis in bone, while fibroblast growth factor 23 suppresses 1,25-dihydroxyvitamin D production in the kidney. Read More

    Endocrine manifestations in children with Williams-Beuren syndrome.
    Acta Paediatr 2017 Dec 21. Epub 2017 Dec 21.
    Paediatric Endocrinology and Diabetes Unit, The Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
    Aim: Endocrine abnormalities in Williams-Beuren syndrome (WBS) include growth retardation, precocious puberty, hypercalcaemia and thyroid disorders. We aimed to characterise these abnormalities in a national cohort of children with WBS.

    Methods: A retrospective study comprising a national cohort of individuals with WBS in Israel (16 males, 18 females) followed between 2010 and 2016. Read More

    Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
    Clin Endocrinol (Oxf) 2017 Dec 19. Epub 2017 Dec 19.
    Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brasil.
    Objectives: The aetiology of congenital hypopituitarism (CH) is unknown in most patients. Rare copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology. Our aim was to study the presence of CNVs and their pathogenicity in patients with idiopathic CH associated with complex phenotypes. Read More

    A Novel IGSF1 Mutation in a Boy With Short Stature and Hypercholesterolemia: A Case Report.
    J Endocr Soc 2017 Jun 2;1(6):731-736. Epub 2017 May 2.
    Department of Pediatric Endocrinology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
    Context: IGSF1 deficiency is a recently discovered syndrome consisting of congenital central hypothyroidism (CeH) and macroorchidism. Here, we report on a patient presenting with short stature, who was found to carry a pathogenic mutation in the IGSF1 gene.

    Case Description: A 14-year-old Israeli boy was referred to the Academic Medical Center in Amsterdam, The Netherlands, for follow-up on short stature ascribed to constitutional delay of growth and puberty, and familial hypercholesterolemia. Read More

    Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone Deficiencies.
    J Endocr Soc 2017 Oct 29;1(10):1322-1330. Epub 2017 Sep 29.
    Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, 05403-900 São Paulo, Brazil.
    Context: Women with hypopituitarism have lower pregnancy rates after ovulation induction. Associated pituitary hormone deficiencies might play a role in this poorer outcome.

    Objective: We evaluated fertility treatment and pregnancy outcomes in five women with childhood-onset combined pituitary hormone deficiencies (CPHD). Read More

    [Functional diagnostics in endocrinology].
    Internist (Berl) 2018 Jan;59(1):38-47
    Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Campus Innenstadt, Ziemssenstraße 1, 80366, München, Deutschland.
    When investigating many endocrinological diseases, basal laboratory parameters are not sufficient to distinguish between physiological and pathological hormone secretion. Functional diagnostics plays a decisive role in this context. Stimulation and suppression tests are used depending on whether under- or over-function needs to be diagnosed. Read More

    Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.
    RNA 2017 Dec 18. Epub 2017 Dec 18.
    Institute of Biotechnology, University of Helsinki
    Mutations in the components of the minor spliceosome underlie several human diseases. A subset of patients with isolated growth hormone deficiency (IGHD) harbor mutations in the RNPC3 gene, which encodes the minor spliceosome-specific U11/U12-65K protein. Although a previous study showed that IGHD patient cells have defects in U12-type intron recognition, the biochemical effects of these mutations on the 65K protein have not been characterized. Read More

    New Insights into the Mechanism of Action of Soluble Klotho.
    Front Endocrinol (Lausanne) 2017 17;8:323. Epub 2017 Nov 17.
    Department of Internal Medicine, Division of Nephrology and Hypertension, University of Iowa Carver College of Medicine, Iowa City, IA, United States.
    The klotho gene encodes a type I single-pass transmembrane protein that contains a large extracellular domain, a membrane spanning segment, and a short intracellular domain. Klotho protein exists in several forms including the full-length membrane form (mKl) and a soluble circulating form [soluble klotho (sKl)]. mKl complexes with fibroblast growth factor receptors to form coreceptors for FGF23, which allows it to participate in FGF23-mediated signal transduction and regulation of phosphate and calcium homeostasis. Read More

    One-hour post-load plasma glucose level is associated with a worse metabolic profile in children with GH deficiency.
    J Endocrinol Invest 2017 Dec 16. Epub 2017 Dec 16.
    Section of Endocrinology, Biomedical Department of Internal and Specialist Medicine (DIBIMIS), University of Palermo, Piazza delle Cliniche 2, 90127, Palermo, Italy.
    Purpose: In children, the plasma glucose value at 1 h (1hPG) during OGTT higher than 132.5 mg/dl is a predictor of alterations in glucose metabolism. We aimed to metabolically characterize GHD children according to 1hPG levels. Read More

    Pre-treatment growth and IGF-I deficiency as main predictors of response to growth hormone therapy in neural models.
    Endocr Connect 2017 Dec 14. Epub 2017 Dec 14.
    A Lewinski, Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland.
    Mathematical models have been applied in prediction of growth hormone treatment effectiveness in children since the end of 1990s. Usually they were multiple linear regression models, however there are also examples derived by empirical non-linear methods. Proposed solution consists in application of machine learning technique - artificial neural networks - to analyse this problem. Read More

    A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion.
    Acta Med Iran 2017 Oct;55(10):661-663
    Department of Medical Genetics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.
    We report a case of 11-year-old girl with growth retardation and 46, XX, Xq27-qter deletion. The endocrinologic evaluation revealed growth hormone deficiency. In karyotype analysis  46, XX, Xq27-qter deletion was determined. Read More

    New neoplasm during GH replacement in adults with pituitary deficiency following malignancy- a KIMS analysis.
    J Clin Endocrinol Metab 2017 Dec 7. Epub 2017 Dec 7.
    Antwerp Centre for Endocrinology, Antwerp, Belgium.
    Context: Data on the association between growth hormone (GH) replacement in patients with GH deficiency (GHD) after malignancies and new neoplasms show conflicting results.

    Objective: To clarify the incidence of new malignant neoplasm in childhood (CO) and adult-onset (AO) adult cancer survivors (CS).

    Design: Retrospective comparison of CO-CS and AO-CS with CO idiopathic GHD (IGHD) and AO non-functioning pituitary adenoma patients (NFPA) and with the general population (standardized incidence ratio, SIR). Read More

    Update on GH therapy in adults.
    F1000Res 2017 16;6:2017. Epub 2017 Nov 16.
    Endocrine Division (SEMPR), Department of Internal Medicine, Federal University of Parana, Curitiba, Brazil.
    Over the last three decades, short- and long-term observational studies, clinical trials, systematic reviews, and meta-analyses have provided relevant information on the efficacy and safety of growth hormone (GH) replacement therapy in adults with GH deficiency (AGHD). The knowledge acquired during this time has been compiled into different guidelines that offer clinicians an evidence-based, practical approach for the management of AGHD. There are, however, still open questions in some key areas in which recommendations are supported by only moderate or weak evidence. Read More

    Impact of bone disease and pain in thalassemia.
    Hematology Am Soc Hematol Educ Program 2017 Dec;2017(1):272-277
    Department of Clinical and Biological Sciences, University of Torino, Torino, Italy.
    Conventional treatment of thalassemia, namely regular blood transfusion and iron chelation, improves perspectives and quality of life; however, successful treatment leads to more time in which long-term complications such as bone disease can develop. Thalassemia bone disease (TBD) is unique: all aspects, from bone anatomy and bone quality to mineral density, may be affected, with important morbidity including osteoporosis, fractures, spinal deformities, nerve compression, and pain. Clinical presentations include growth impairment, rickets-like features, back pain, spinal deformities, any sign of nerve compression, severe osteoporosis, and fragility fractures. Read More

    Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
    Hum Genomics 2017 Dec 8;11(1):33. Epub 2017 Dec 8.
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC 03, PO Box 3354, Riyadh, 11211, Saudi Arabia.
    Correction: After publication of the article [1], it has been brought to our attention that there is a nomenclature issue with this article. At the time of acceptance, the VARS2 mutation was considered equivalent to the VARS2 mutation. However, this has changed so that VARS now only refers to shorter mitochondrial sequence of valyl-tRNA synthesase containing 1093 amino acids. Read More

    The effects of genetic polymorphism on treatment response of recombinant human growth hormone.
    Curr Drug Metab 2017 Dec 6. Epub 2017 Dec 6.
    Hebei Center for Women and Children's Health, Shijiazhuang. China.
    Recombinant human growth hormone (rhGH) has been widely used in clinical treatment of growth hormone deficiency (GHD) or non GHD since 1985 and technology have achieved a great development in different long-acting formulations. Although the mathematical models for predicting the growth hormone response could help clinicians get to an individual personalized growth dose, many patients just can't reach the target height and the growth hormone responses differed.Genetic polymorphisms may play a role in the varies of individual responses in this treatment process. Read More

    Discordance between mass spectrometry and immunometric IGF-1 assay in pituitary disease: a prospective study.
    Pituitary 2018 Feb;21(1):65-75
    Pituitary Center, Department of Medicine, Cedars-Sinai Medical Center, 127 S. San Vicente Blvd., Advanced Health Sciences Pavilion, Sixth Floor, A6600, Los Angeles, CA, 90048, USA.
    Purpose: Measuring IGF-1, a biomarker for GH activity, is critical to evaluating disordered hypothalamic-pituitary GH axis. Inconsistent IGF-1 measurements among different immunoassays are well documented. We switched from Immulite 2000 immunoassay to narrow-mass-extraction, high-resolution liquid chromatography mass-spectrometry (LC-MS) compliant with recent consensus recommendations on assay standardization. Read More

    Effect of Growth Hormone on Final Height in Children with Idiopathic Short Stature: A UAE, Eastern Region Experience.
    Oman Med J 2017 Nov;32(6):467-470
    Division of Neonatology, Department of Pediatric, Al Jalila Children's Specialty Hospital, Dubai, UAE.
    Objectives: The use of growth hormone (GH) in idiopathic short stature (ISS) has been a subject of debate for the past two decades. We sought to assess the effect of GH on final height (FH) in patients with ISS in our region, which has a high consanguinity rate, and compare it to the effect observed in GH deficient (GHD) patients.

    Methods: We conducted a retrospective chart review from 1 January 2005 to 31 December 2013 for patients with ISS or GHD from the local United Arab Emirates population who received GH treatment and were followed-up regularly in our clinic. Read More

    Growth Hormone Deficiency in Children: From Suspecting to Diagnosing.
    Indian Pediatr 2017 Nov;54(11):955-960
    Department of Pediatrics,AIIMS, Jodhpur; and #Division of Pediatric Endocrinology, Department of Pediatrics, AIIMS, New Delhi; India. Correspondence to: Dr Vandana Jain, Professor, Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, NewDelhi 110029.
    Isolated Growth hormone deficiency is an important and treatable cause of short stature. However, it is often difficult to diagnose the condition with certainty due to the lack of a single robust diagnostic test. Short children, other than those with the classical phenotype of immature chubby facies, truncal obesity and micropenis in boys, or those with history of cranial lesions with known association with hypopituitarism, should be evaluated for growth hormone deficiency only after excluding the other more common conditions. Read More

    GHRH plus arginine and arginine administration evokes the same ratio of GH isoforms levels in young patients with Prader-Willi syndrome.
    Growth Horm IGF Res 2017 Nov 27. Epub 2017 Nov 27.
    Istituto Auxologico Italiano, IRCCS, Experimental Laboratory for Auxo-endocrinological Research, Milan, Verbania, Italy; Istituto Auxologico Italiano, IRCCS, Division of Auxology, Verbania, Italy.
    Human GH is present in pituitary and circulation as several isoforms, the prevalent being 22kDa- and 20kDa-GH. Recently, we have demonstrated the preservation of a normal balance in GH isoforms after GH releasing hormone (GHRH) plus arginine (ARG) administration in adult patients with Prader-Willi syndrome (PWS), one of the most common causes of syndromic obesity, often associated with GH deficiency (GHD). Aim of the present study was to measure circulating levels of 22kDa- and 20kDa-GH in young PWS patients (n=24; F/M: 10/14; genotype UPD/DEL/met+: 11/11/2; age: 10. Read More

    Adherence to growth hormone therapy in children and its potential barriers.
    J Pediatr Endocrinol Metab 2018 Jan;31(1):13-20
    Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
    Background: One of the main concerns in chronic diseases such as growth hormone (GH) deficiency is adherence to the treatment, which significantly affects treatment outcomes.

    Methods: This cross-sectional study was conducted among 169 GH recipient children (2-12 years) and teens (13-19 years) referred to a GH distributing teaching pharmacy. The eight-item Morisky Medication Adherence Scale (MMAS) and auto-compliance method were used for the assessment of patients' adherence to GH. Read More

    Pituitary imaging in 129 children with growth hormone deficiency: A spectrum of findings.
    Sudan J Paediatr 2017 ;17(1):30-35
    Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
    Growth Hormone (GH) deficiency is the most common pituitary hormone deficiency in children. Magnetic Resonance Imaging (MRI) of the brain detects structural pituitary anomalies associated with GH deficiency. This retrospective hospital-based study was conducted at King Khalid University hospital (KKUH), Riyadh, Saudi Arabia, during the period (January 1995-June 2016). Read More

    Nitric oxide mediates apoptosis and mitochondrial dysfunction and plays a role in growth hormone deficiency by nivalenol in GH3 cells.
    Sci Rep 2017 Dec 6;7(1):17079. Epub 2017 Dec 6.
    The Key Laboratory for the Detection of Veterinary Drug Residues, Ministry of Agriculture, Wuhan, P.R. China.
    Nivalenol (NIV), a type B trichothecenes commonly found in cereal crops, can cause growth impairment in animals. However, limited information about its mechanisms is available. Trichothecenes have been characterized as an inhibitor of protein synthesis and induce apoptosis in cells. Read More

    Differential expression of IGFBPs in Laron syndrome-derived lymphoblastoid cell lines: Potential correlation with reduced cancer incidence.
    Growth Horm IGF Res 2017 Nov 24. Epub 2017 Nov 24.
    Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Yoran Institute for Human Genome Research, Tel Aviv University, Tel Aviv 69978, Israel. Electronic address:
    Laron syndrome (LS), or primary growth hormone (GH) insensitivity, is a growth disorder that results from mutation of the GH-receptor (GHR) gene leading to congenital insulin-like growth factor-1 (IGF-1) deficiency. Recent epidemiological studies have shown that LS patients are protected from cancer development. Genome-wide profiling identified genes and signaling pathways that are differentially represented in LS patients, and that may contribute to cancer protection. Read More

    Effect of recombinant human growth hormone therapy on blood lipid and carotid intima-media thickness in children with growth hormone deficiency.
    Pediatr Res 2018 Jan 17. Epub 2018 Jan 17.
    Department of Endocrinology, Shanghai Tenth People's Hospital, Shanghai, China.
    BackgroundReports on the association between growth hormone deficiency (GHD) and cardiovascular risk factors in children are limited. We aim to investigate the effect of different doses of recombinant human growth hormone (rhGH) therapy on blood lipid and carotid intima-media thickness (cIMT) in Chinese GHD children.MethodsNinety children, including sixty isolated GHD children and thirty healthy children, were enrolled. Read More

    Endocrine and metabolic assessment in adults with Langerhans cell histiocytosis.
    Eur J Intern Med 2017 Nov 29. Epub 2017 Nov 29.
    U.O. di Endocrinologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dipartimento di Scienze Cliniche e di Comunità, Università di Milano, Milan, Italy.
    Context: Diabetes insipidus (DI) is one of most common complications of Langerhans cell histiocytosis (LCH) but prevalence of anterior pituitary deficiencies and metabolic alterations have not been clearly defined yet.

    Objectives: Evaluate prevalence of endocrine and metabolic manifestations in a cohort of patients affected by Pulmonary LCH.

    Methods: Observational cross-sectional study on 18 adults (7 M/11 F, 42±12years) studied for complete basal and dynamic endocrine lab tests and glucose metabolism. Read More

    Vitamin D in adolescence: evidence-based dietary requirements and implications for public health policy.
    Proc Nutr Soc 2017 Dec 4:1-10. Epub 2017 Dec 4.
    Department of Nutritional Sciences, Faculty of Health and Medical Sciences,University of Surrey,Guildford,Surrey,UK.
    Vitamin D is a unique nutrient. First, it acts as a pro-hormone and secondly, the requirement for vitamin D can be met by both endogenous synthesis from sunlight and by dietary sources. This complicates the determination of dietary requirements for vitamin D, which along with the definition of optimal vitamin D status, have been highly controversial and much debated over recent years. Read More

    Obesity is associated with vitamin D deficiency in Danish children and adolescents.
    J Pediatr Endocrinol Metab 2018 Jan;31(1):53-61
    The Children's Obesity Clinic, Department of Pediatrics, Copenhagen University Hospital Holbæk, Holbæk, Denmark.
    Background: Sufficient serum concentrations of vitamin D are required to maintain bone health during growth. The aims of this study were to determine whether vitamin D deficiency is more prevalent among children and adolescents with obesity compared to their normal weight peers and to identify clinical and biochemical variables associated with vitamin D deficiency.

    Methods: One thousand four hundred and eighty-four children and adolescents with overweight/obesity and 2143 population-based controls were recruited from the Danish Childhood Obesity Biobank. Read More

    Growth response to growth hormone treatment in patients with SHOX deficiency can be predicted by the Cologne prediction model.
    J Pediatr Endocrinol Metab 2018 Jan;31(1):25-31
    Children's Hospital, University of Cologne, Cologne, Germany.
    Background Growth hormone (GH) treatment in children with short stature homeobox-containing gene (SHOX) deficiency is recognized to increase height velocity (HV) and adult height. Prediction of growth response continues to be a challenge. A comparatively accurate method is the Cologne prediction model developed in children with GH deficiency. Read More

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