DOCSLIB.ORG

Poster Presentations

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text

Load more

______________________________________ P1-d1-164 Adrenals and HPA Axis 1 Arterial hypertension in children: alterations in mineralocorticoid and glucocorticoid axis and their impact on pro-inflammatory, endothelial damage, and oxidative stress parameters Carmen Campino1; Rodrigo Bancalari2; Alejandro Martinez-Aguayo2; Poster Presentations Marlene Aglony2; Hernan Garcia2; Carolina Avalos2; Lilian Bolte2; Carolina Loureiro2; Cristian Carvajal1; Lorena Garcia3; Sergio Lavanderos3; Carlos Fardella1 1Pontificia Universidad Catolica, Endocrinology, and Millennium Institute of Immunology and Immunotherapy, Santiago, Chile; 2Pontificia Universidad Catolica, pediatrics, Santiago, Chile; 3Universidad de Chile, School of Chemical Sciences, Santiago, Chile Background and aims: The pathogenesis of arterial hypertension and its impact and determining factors with respect to cardiovascular damage in chil- dren is poorly understood. We evaluated the prevalence of alterations in the mineralocorticoid and glucocorticoid axes and their impact on pro-inflam- matory, endothelial damage and oxidative stress parameters in hypertensive children. Methods: 306 children (5-16 years old); Group 1: Hypertensives (n=111); Group 2: normotensives with hypertensive parents (n=101); Group 3: normotensives with normotensives parents (n= 95). Fasting blood samples were drawn for hormone measurements (aldosterone, plasma renin activity (PRA), cortisol (F), cortisone (E)); inflammation vari- ______________________________________ ables (hsRCP, adiponectin, IL-6, IL-8, TNF-α); endothelial damage (PAI-I, P1-d1-163 Adrenals and HPA Axis 1 MMP9 and MMP2 activities) and oxidative stress (malondialdehyde). Famil- The role of S-palmitoylation of human ial hyperaldosteronism type 1 (FH-1) was diagnosed when aldosterone/PRA ratio >10 was associated with the chimeric CYP11B1/CYP11B2 gene. The glucocorticoid receptor in mediating the non- 11β-HSD2 activity was considered altered when the F/E ratio exceeded the genomic actions of glucocorticoids mean + 2 SD with respect to group 3. Nicolas C. Nicolaides1; Michael M. Roberts1; Tomoshige Kino2; Comparison between the groups was done by Kruskal-Wallis Test. Eleni Katsantoni1; Amalia Sertedaki3; George P. Chrousos3; Results: HF-1 was only detected in group 1; 4/115 children (3.4%). The Evangelia Charmandari3 F/E ratio was elevated (>4.3) in Group 1= 18/115 (15.6%); Group 2= 5/101 1Biomedical Research Foundation of the Academy of Athens, Division (4.9%) and Group 3= 5/95 (5.3%). of Endocrinology and Metabolism, Athens, Greece; 2National Institutes The comparison between groups 1, 2 and 3 showed differences in levels of F of Health, Unit on Molecular Hormone Action, Eunice Kennedy (ug/dl): 9.9[6.7-14.4]*, 8.5[6.2-11.1], 8.4[6.3-10.4]; F/E ratio: 2.9[2.2-3.9]*, Shriver National Institute of Child Health and Human Development, 2.8[2.2-3.3], 2.6[2.0-3.2]; hsCRP (mg/L): 1.2[0.4-2.3]*,**, 0.5[0.2-1.6], Bethesda, Maryland, United States; 3University of Athens Medical 0.5[0.2-1.3]; PAI-I (ng/ml): 22.2[13.4-31.7]*, 18.8[9.8-27.3], 14.9[8.9-23.3] School, Division of Endocrinology and Metabolism, First Department of and MMP-9: 2.2[1.3-3.0]*, 1.8[1.2-2.5], 1.6[1.2-2.3].*p<0.05 group 1 vs Pediatrics, Athens, Greece group 3, **p<0.05 group 1 vs group 2. Conclusions: In hypertensive children, HF-1 and deficient 11β-HSD2 activ- Background: In humans, glucocorticoids (GCs) regulate a broad spectrum ity were detected in addition to increases in inflammation, subclinical and of physiologic functions and exert both genomic and non-genomic actions endothelial damage. These results highlight the importance of blood pressure through their ubiquitously expressed glucocorticoid receptor (hGR). The rap- measurement in the child population. id non-genomic actions of GCs are likely to be mediated by membrane hGRs that transduce the glucocorticoid signal via activation of kinases. S-palmi- toylation plays an important role in plasma membrane (PM) localization and ______________________________________ occurs through a highly conserved 9 amino acid motif in the ligand-binding P1-d1-165 Adrenals and HPA Axis 1 domain (LBD) of steroid receptors. A highly homologous sequence is present The effect of anastrozole on the predicted in the LBD of the hGRα protein, suggesting that the hGR might also undergo height of obese boys with premature S-palmitoylation. Objective and hypotheses: To determine the role of S-palmitoylation of hGR adrenarche, delayed gonadarche and in mediating rapid glucocorticoid signaling following translocation and bind- advanced bone age ing to the PM. Nordie Anne Bilbao; Mariano Castro-Magana Methods: In vitro studies were performed to determine the specific residues Winthrop University Hospital, Pediatric Endocrinology, Mineola, United within the 9 amino acid motif of the LBD of hGRα that are crucial for rapid States glucocorticoid signaling. Specifically, we determined whether mutation of the amino acids at position -2, 0 and +5/6, relative to cysteine in the 9 amino Background: Premature adrenarche is the early onset of secretion of adrenal acid motif, significantly reduces localization of the receptor to the PM, S- androgens. The adrenal androgens dehydroepiandrosterone (DHEA), dehy- palmitoylation, association with caveolin-1, and MAPK and PI3K activation. droepiandrosterone sulfate (DHEAS), and androstenedione are converted to Results: Both the wild-type and the mutant receptors hGRαY663A, estrogens by the enzyme aromatase. There is a significant association of pre- hGRαC665A and hGRáLL670/671AA showed similar distribution to the PM. mature adrenarche with obesity. The increased aromatase activity in obesity Addition of 2-bromopalmitate, an S-palmitoylation inhibitor, did not prevent enhances estrogen production. Since estrogens are responsible for skeletal PM localization of the receptor or colocalization with caveolin-1. Compared maturation, its increase can result in an advanced bone age and a decreased with the wild-type hGR, all hGR mutant receptors resulted in decreased acti- height prediction. Estrogens exert a negative feedback to the pituitary LH and vation of MAPK signaling from 60 min onwards. A similar reduction in wild- FSH secretion, thus causing delayed gonadarche. Aromatase inhibitors, which type GR-induced MAPK signaling at 60 min was observed after treatment block the aromatase enzyme, decrease estrogens and increase testosterone, with 2-bromopalmitate. resulting in slower progression of skeletal maturation, and possibly increased Conclusions: S-palmitoylation facilitates sustained activation of the MAPK predicted height. pathway. Further studies are required to confirm that the hGR protein medi- Objective and hypotheses: We hypothesize that treatment with anastrozole ates this effect through the 9 amino acid motif in the LBD. increases the predicted height of obese boys with premature adrenarche, who have delayed gonadarche and advanced bone age. We aim to compare the __________________________________________________ __________________________________________________ ___________________ 51st Annual Meeting of the ESPE Horm Res 2012;78(suppl 1) 47 Downloaded by: 198.143.45.33 - 12/22/2015 7:55:39 PM predicted height at baseline and after two years of treatment with anastrozole seminiferous tubules may lead to obstructive azoospermia and irreversible in these boys. damage of the surrounding testicular tissue.Therefore, it may be important to Population and methods: The study is conducted on twenty boys 8-12 years detect and treat the tumours in an early stage. Ultrasound is a good method old diagnosed with prior premature adrenarche from years 2006 through for detection and follow-up of TART, especially when they are not palpable 2011, who received anastrozole, 1 mg/day, for two years. These boys also by physical examination. TART is already detected in children, however the have advanced bone age, delayed gonadarche in relation to the bone age age of first detection is not known and screening of TART is not routinely and obesity (BMI +2 SDS). Predicted heights (determined from the Bayley- performed. Pinneau tables) at baseline and two years after treatment were obtained and Objective: Aim of our cross sectional study was to define the prevalence and compared using the paired t- test. age of first detection of TART in a group of 42 paediatric male CAH patients Results (Preliminary): There is a significant increase in the mean predicted age 0 – 19 years old. height of 6.8 cm two years after treatment with anastrozole compared to the Methods: All male classic CAH children who are regularly followed at our predicted height at baseline in obese boys with premature adrenarche, delayed outpatient pediatric endocrine clinic were included. Ultrasonographic evalua- gonadarche and advanced bone age (p=0.02). tion was performed by an experienced radiologist (KK) with a high-frequency Conclusions: Anastrozole increases the predicted height in obese boys with linear array transducer L 17 / 5 (17 MHz) in two directions (transversal and premature adrenarche, delayed gonadarche and advanced bone age. sagital). Results: Below the age of 10 years no TART were detected (16 patients). Above the age of 10 there was a clear increase in prevalence of TART: 10 – ______________________________________ 12 years 28% (2 of 7 patients), 13 – 14 years 50% (4/8), 15 – 16 years 75% P1-d1-166 Adrenals and HPA Axis 1 (3/4). Above the age of 16 TART were detected in 100% of the patients (7/7). Hair cortisol as a novel monitoring tool for The tumors
Recommended publications
  • ACTH Stimulation Tests for the Diagnosis of Adrenal Insufficiency: Systematic Review and Meta-Analysis

    ACTH Stimulation Tests for the Diagnosis of Adrenal Insufficiency: Systematic Review and Meta-Analysis

    ORIGINAL ARTICLE ACTH Stimulation Tests for the Diagnosis of Adrenal Insufficiency: Systematic Review and Meta-Analysis Naykky Singh Ospina,* Alaa Al Nofal,* Irina Bancos, Asma Javed, Khalid Benkhadra, Ekta Kapoor, Aida N. Lteif, Neena Natt, and M. Hassan Murad Evidence-Based Practice Research Program (N.S.O., A.A.N., K.B., M.H.M.), Mayo Clinic, Rochester, Downloaded from https://academic.oup.com/jcem/article/101/2/427/2810551 by guest on 29 September 2021 Minnesota; Knowledge and Evaluation Research Unit (N.S.O., K.B., M.H.M.), Mayo Clinic, Rochester, Minnesota; Division of Endocrinology, Diabetes, Metabolism, and Nutrition (N.S.O., N.N., I.B.), Mayo Clinic, Rochester, Minnesota; Division of Pediatric Endocrinology and Metabolism (A.A.N., A.J., A.N.L.), Mayo Clinic, Rochester, Minnesota; Division of General Internal Medicine (E.K.), Mayo Clinic, Rochester, Minnesota 55905 Context: The diagnosis of adrenal insufficiency is clinically challenging and often requires ACTH stimulation tests. Objective: To determine the diagnostic accuracy of the high- (250 mcg) and low- (1 mcg) dose ACTH stimulation tests in the diagnosis of adrenal insufficiency. Methods: We searched six databases through February 2014. Pairs of independent reviewers se- lected studies and appraised the risk of bias. Diagnostic association measures were pooled across studies using a bivariate model. Data Synthesis: For secondary adrenal insufficiency, we included 30 studies enrolling 1209 adults and 228 children. High- and low-dose ACTH stimulation tests had similar diagnostic accuracy in adults and children using different peak serum cortisol cutoffs. In general, both tests had low sensitivity and high specificity resulting in reasonable likelihood ratios for a positive test (adults: high dose, 9.1; low dose, 5.9; children: high dose, 43.5; low dose, 7.7), but a fairly suboptimal likelihood ratio for a negative test (adults: high dose, 0.39; low dose, 0.19; children: high dose, 0.65; low dose, 0.34).
  • SNAP Cortisol Testing Guide

    SNAP Cortisol Testing Guide

    SNAP® Cortisol Testing Guide Diagnosing and Treating Cases of Suspected Canine Hyperadrenocorticism or Addison’s Disease IMPORTANT: Review history of any administration of corticosteroids as these may influence the reported results. Diagnose ACTH Stimulation Test Diagnostic Protocol for Cases of Suspected Canine Hyperadrenocorticism or Addison’s Disease History, physical exam, CBC, chemistry panel, electrolytes and urinalysis consistent with Canine Hyperadrenocorticism or Addison’s disease Draw baseline cortisol sample. Perform an ACTH stimulation test with Cortrosyn® 5 µg/kg IV or ACTH gel 2.2 U/kg IM. Draw 1-hour cortisol (Cortrosyn®) or 1 and 2-hour cortisol (ACTH gel). Pre-ACTH: 2–6 µg/dL Pre- and Post-ACTH Post-ACTH Post-ACTH Post-ACTH 2 6 µg/dL >22 µg/dL <2 µg/dL – Post-ACTH: 6–18 µg/dL 18–22 µg/dL If both results are <2 µg/dL, results are Equivocal, Consistent Inconclusive consistent with Normal Cushing’s possible with Cushing’s hypoadrenocorticism Perform high-dose dexamethasone* Begin treatment with suppression to mineralocorticoid discriminate between and/or glucocorticoid PDH and ATH, as appropriate. ACTH level and/or abdominal ultrasound. * Do not exceed 0.1 mg/kg of dexamethasone. Diagnose Low-Dose Dexamethasone Suppression Protocol For Cases of Suspected Canine Hyperadrenocorticism History, physical exam, CBC, chemistry panel, electrolytes and urinalysis consistent with Canine Hyperadrenocorticism Draw baseline cortisol sample. Perform a low-dose dexamethasone suppression test with 0.01 mg/kg of dexamethasone IV. Draw 4-hour
  • Adrenal Incidentalomas with Supraphysiologic Response to ACTH Stimulus: a Case Report

    Adrenal Incidentalomas with Supraphysiologic Response to ACTH Stimulus: a Case Report

    Hindawi Publishing Corporation Case Reports in Endocrinology Volume 2012, Article ID 503290, 4 pages doi:10.1155/2012/503290 Case Report Adrenal Incidentalomas with Supraphysiologic Response to ACTH Stimulus: A Case Report Marianna Antonopoulou1 and Asya Perelstein2 1 SUNY Downstate Medical Center, 450 Clarkson Avenue, Box 1205, Brooklyn, NY 11203, USA 2 VA Medical Center, 800 Poly Place, New York, NY 11209, USA Correspondence should be addressed to Marianna Antonopoulou, [email protected] Received 7 August 2012; Accepted 20 September 2012 Academic Editors: I. Broom, C. Capella, and T. Konrad Copyright © 2012 M. Antonopoulou and A. Perelstein. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. We present the diagnostic approach of a patient with adrenal incidentalomas. A 72-year-old African American male had a CT scan of the abdomen showing right and left adrenal masses measuring 5 × 3.5 cm and 3.7 × 2.9 cm, respectively. The patient had negative hormonal workup. The radiologist insisted that the CT findings are consistent with adrenal hyperplasia, and therefore he underwent ACTH stimulation to rule out late-onset congenital adrenal hyperplasia (CAH). The stimulation test revealed that 17-hydroxyprogesterone and 11-deoxycortisol increased to levels high enough to confirm CAH, but cortisol had exaggerated response as well, thus making the diagnosis of CAH unlikely where metabolism is shifted to precursors. Subsequently, the patient underwent screening for Cushing’s syndrome (CS) with a dexamethasone suppression test. Patient failed the suppresion test, raising the issue for subclinical CS (SCS), likely due to ACTH-independent macronodular adrenal hyperplasia.
  • A Guide to Obesity and the Metabolic Syndrome

    A Guide to Obesity and the Metabolic Syndrome

    A GUIDE TO OBESITY AND THE METABOLIC SYNDROME ORIGINS AND TREAT MENT GEORG E A. BRA Y Louisiana State University, Baton Rouge, USA Boca Raton London New York CRC Press is an imprint of the Taylor & Francis Group, an informa business © 2011 by Taylor and Francis Group, LLC CRC Press Taylor & Francis Group 6000 Broken Sound Parkway NW, Suite 300 Boca Raton, FL 33487-2742 © 2011 by Taylor and Francis Group, LLC CRC Press is an imprint of Taylor & Francis Group, an Informa business No claim to original U.S. Government works Printed in the United States of America on acid-free paper 10 9 8 7 6 5 4 3 2 1 International Standard Book Number: 978-1-4398-1457-4 (Hardback) This book contains information obtained from authentic and highly regarded sources. Reasonable efforts have been made to publish reliable data and information, but the author and publisher cannot assume responsibility for the valid- ity of all materials or the consequences of their use. The authors and publishers have attempted to trace the copyright holders of all material reproduced in this publication and apologize to copyright holders if permission to publish in this form has not been obtained. If any copyright material has not been acknowledged please write and let us know so we may rectify in any future reprint. Except as permitted under U.S. Copyright Law, no part of this book may be reprinted, reproduced, transmitted, or uti- lized in any form by any electronic, mechanical, or other means, now known or hereafter invented, including photocopy- ing, microfilming, and recording, or in any information storage or retrieval system, without written permission from the publishers.
  • The Encyclopedia of Endocrine Diseases and Disorders

    The Encyclopedia of Endocrine Diseases and Disorders

    THE ENCYCLOPEDIA OF lJ z > 0 z Endocrine < I ~ Diseases UJ< I and Disorders UJ ...J '-'- z 0 V'l 1- u '-'-< WILLIAM P ETIT. JR.. M.0. CHRISTINE ADAMEC THE ENCYCLOPEDIA OF ENDOCRINE DISEASES AND DISORDERS THE ENCYCLOPEDIA OF ENDOCRINE DISEASES AND DISORDERS William Petit Jr., M.D. Christine Adamec The Encyclopedia of Endocrine Diseases and Disorders Copyright © 2005 by William Petit Jr., M.D., and Christine Adamec All rights reserved. No part of this book may be reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, or by any information storage or retrieval systems, without permission in writing from the publisher. For information contact: Facts On File, Inc. 132 West 31st Street New York NY 10001 Library of Congress Cataloging-in-Publication Data Petit, William. The encyclopedia of endocrine diseases and disorders / William Petit Jr., Christine Adamec. p. ; cm. Includes bibliographical references and index. ISBN 0-8160-5135-6 (hc : alk. paper) 1. Endocrine glands—Diseases—Encyclopedias. [DNLM: 1. Endocrine Diseases—Encyclopedias—English. WK 13 P489ea 2005] I. Adamec, Christine A., 1949– II. Title. RC649.P48 2005 616.4’003—dc22 2004004916 Facts On File books are available at special discounts when purchased in bulk quantities for businesses, associations, institutions, or sales promotions. Please call our Special Sales Department in New York at (212) 967-8800 or (800) 322-8755. You can find Facts On File on the World Wide Web at http://www.factsonfile.com. Text and cover design by Cathy Rincon Printed in the United States of America VB FOF 10 9 8 7 6 5 4 3 2 1 This book is printed on acid-free paper.
  • Obituary Prof. Dr. Ruth Illig

    Obituary Prof. Dr. Ruth Illig

    International Journal of Neonatal Screening Obituary Obituary Prof. Dr. Ruth Illig Annette Grüters-Kieslich 1,*, Toni Torresani 2 and Daniel Konrad 3 1 Chief Medical Director and Chairwoman of the Board, Heidelberg University Hospital, Im Neuenheimer Feld 672, 69120 Heidelberg, Germany 2 Former Director Swiss Newborn Screening Laboratory, University Children‘s Hospital, Steinwiesstrasse 75, 8032 Zürich, Switzerland; [email protected] 3 Head of the Department of Paediatric Endocrinology and Diabetology, University Children‘s Hospital, Steinwiesstrasse 75, 8032 Zürich, Switzerland; [email protected] * Correspondence: [email protected] Received: 27 July 2017; Accepted: 28 July 2017; Published: 3 August 2017 On 26 June 2017 Prof. Dr. Ruth Illig peacefully passed away after a life fulfilled with an untiring commitment for children with endocrine diseases. She has been an enthusiastic fighter for the improvement of child health not only in Europe, but also with a global perspective. Ruth Illig was born on 12 November 1924 in Nuremberg, Germany. Her childhood and adolescence in Germany was affected by the Second World War. During the war, she was brought from Germany to Switzerland to recover from the stressful situation and physical weakening. After the war, she spent a significant time of her academic training in Bern and Zurich. Following graduation from medical school she was accepted by Prof. Guido Fanconi for a pediatric residency at the University Children’s Hospital (Kinderspital) Zurich, Switzerland. She was promoted to a fellow and tenure position and worked closely with Prof. Andrea Prader. In these early years, she focused on growth disorders and she established the endocrine laboratory using radioimmunoassays for determination of growth hormone and insulin.
  • Endocrine Test Selection and Interpretation

    Endocrine Test Selection and Interpretation

    The Quest Diagnostics Manual Endocrinology Test Selection and Interpretation Fourth Edition The Quest Diagnostics Manual Endocrinology Test Selection and Interpretation Fourth Edition Edited by: Delbert A. Fisher, MD Senior Science Officer Quest Diagnostics Nichols Institute Professor Emeritus, Pediatrics and Medicine UCLA School of Medicine Consulting Editors: Wael Salameh, MD, FACP Medical Director, Endocrinology/Metabolism Quest Diagnostics Nichols Institute San Juan Capistrano, CA Associate Clinical Professor of Medicine, David Geffen School of Medicine at UCLA Richard W. Furlanetto, MD, PhD Medical Director, Endocrinology/Metabolism Quest Diagnostics Nichols Institute Chantilly, VA ©2007 Quest Diagnostics Incorporated. All rights reserved. Fourth Edition Printed in the United States of America Quest, Quest Diagnostics, the associated logo, Nichols Institute, and all associated Quest Diagnostics marks are the trademarks of Quest Diagnostics. All third party marks − ®' and ™' − are the property of their respective owners. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopy, recording, and information storage and retrieval system, without permission in writing from the publisher. Address inquiries to the Medical Information Department, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690-6130. Previous editions copyrighted in 1996, 1998, and 2004. Re-order # IG1984 Forward Quest Diagnostics Nichols Institute has been
  • Pediatric Endocrinology

    Pediatric Endocrinology

    Books & journals books Adrenal: Fluck, C. E. (ed.) & Miler, W. L. (ed.) . Disorders of the human adrenal cortex. Basel: Karger; 2018. Krieger, D. T. Cushing's syndrome. Berlin: Springer; 1982. Lajic, Svetlana . Molecular analysis of mutated P450c21 in congenital adrenal hyperplasia. Stockholm: Department of Women and Child Health Pediatr; 1998. Lehnert, Hendrik (ed.) . Pheochromocytoma; pathophysiology and clinical management. Basel: Karger; 2004. New, Maria . Advances in steroid disorders in children. Parma: Universita' Degli Studi di Parma; 2000. New, Maria I. (ed.) & Levine, Lenore S. (ed.) . Adrenal diseases in childhood. Basel: Karger; 1984. Vinson, G. P. (ed.) & Anderson, D. C. (ed.) . Adrenal glands, vascular system and hypertension. Bristol: Journal of Endocrinology; 1996. Aging: Brunner,D Jokl, E Eds. Physical activity and aging Basel: Karger,S; 1970. Corpas, Emiliano (ed.) . Endocrinology of Aging ; clinical aspects in diagrams and images. Amsterdam: Elsevier; 2021. Morrison, Mary F. (ed.) . Hormones, gender and the aging brain ; the endocrine basis of geriatric psychiatry. Cambridge: Cambridge University Press; 2000. Olshansky, S. Jay & Carnes, Bruce A. The Quest for immortality ; science at the frontiers of aging. New York: W. W. Norton & Company; 2001. Sinnott, Jan D. Sex roles and Aging : theory and research from a systems perspective. Basel: Karger; 1986. Werner Kohler, Jena (ed.) . Altern und lebenszeit ; vortrage anlablich der jahresversammlung vom 26. bis 29. ; marz 1999 zu halle (saale). Halle: Deutsche Akademie der Naurforscher Leopoldin; 1999. Auto-Immunity: Altman, Amnon (ed.) . Signal transducation pathways in autoimmunity. Basel: Karger; 2002. Bastenie, P. A. (ed.) & Gept, W. (ed.) & Addison, G. M. (ed.) . Immunity and autoimmunity in diabetes mellitus ; proceedings of the francqui foundation colloquium, ; brussels, april 30- may 1, 1973.
  • Diagnosis and Management of the Patient with Non-Classic CAH Due to 21-Hydroxylase Deficiency

    Diagnosis and Management of the Patient with Non-Classic CAH Due to 21-Hydroxylase Deficiency

    3 180 A Nordenström and Diagnosis and management of 180:3 R127–R145 Review H Falhammar NCAH MANAGEMENT OF ENDOCRINE DISEASE Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency Anna Nordenström1,2 and Henrik Falhammar3,4 1Department of Women’s and Children’s Health, Karolinska Institutet, 2Department of Paediatric Endocrinology, Correspondence Astrid Lindgren Children Hospital, Karolinska University Hospital, 3Department of Endocrinology, Metabolism and should be addressed Diabetes, Karolinska University Hospital, and 4Department of Molecular Medicine and Surgery, Karolinska Institutet, to A Nordenström Stockholm, Sweden Email [email protected] Abstract Non-classic congenital adrenal hyperplasia (NCAH) is a relatively common disorder regardless of ethnicity, but most cases are never diagnosed, especially in males. A baseline 17-hydroxyprogesterone measurement may be used for screening, but 17-hydroxyprogesterone measurement after ACTH stimulation is the gold standard. We advocate a CYP21A2 mutation analysis to verify the diagnosis, for genetic counselling and for better prognostic and treatment guidance. Most patients are diagnosed in adolescence and adult life with hirsutism, acne, a PCOS-like picture and fertility issues. Many men with NCAH never seek medical attention and escape diagnosis. Although treatment is somewhat controversial, an early diagnosis and start of treatment may have positive implications on growth and be relevant for preventing and ameliorating the symptoms and consequences of androgen excess that develop over time, including fertility issues. Long-term treatment with glucocorticoids will improve the androgen symptoms but may result in long-term complications, such as obesity, insulin resistance, hypertension, osteoporosis and fractures. European Journal of Endocrinology The glucocorticoid doses should be kept low.
  • Scientific Proceedings 2018 CVMA Convention

    Scientific Proceedings 2018 CVMA Convention

    Scientific Proceedings 2018 CVMA Convention Table of Contents THURSDAY, JULY 5, 2018. .................................................................................................................................................... 5 Business Management Track .............................................................................................................................................. 5 How to Train Your Millennial ................................................................................................................................................... 5 Show Me the Money! ................................................................................................................................................................ 7 Don’t Fear the Feedback .......................................................................................................................................................... 11 It’s All in the Family: Creating a Team Culture ...................................................................................................................... 15 Becoming a Loving Leader ..................................................................................................................................................... 17 FRIDAY, JULY 6, 2018. ......................................................................................................................................................... 22 Companion Animal: Dentistry ........................................................................................................................................
  • AN UPDATE on ATYPICAL HYPERADRENOCORTICISM Doug Mason, DVM, Dvsc, DACVIM (Small Animal Internal Medicine)

    AN UPDATE on ATYPICAL HYPERADRENOCORTICISM Doug Mason, DVM, Dvsc, DACVIM (Small Animal Internal Medicine)

    South Clinic: 920 Yonge St, Toronto ON – (416) 920-2002 North Clinic: 280 Sheppard Ave. E., Toronto ON - (416) 226-3663 AN UPDATE ON ATYPICAL HYPERADRENOCORTICISM Doug Mason, DVM, DVSc, DACVIM (Small Animal Internal Medicine) Atypical hyperadrenocorticism is defined as a syndrome in which a dog appears to have hyperadrenocorticism based on history, physical examination and clinicopathologic findings but a low dose dexamethasone suppression test, urine cortisol creatinine ratio test and ACTH stimulation tests fall into the currently accepted reference range. This is an uncommon endocrine disorder, which affects middle aged to older dogs and clinically may mimic the signs of hyperadrenocorticism. This disease is thought to be a result of overproduction of estradiol, androstenedione, progesterone, and 17‐hydroxyprogesterone in addition to cortisol. The disease process may be a result of adrenal hyperplasia, adrenal tumours or a functional pituitary microadenoma. It is more common to have the adrenal form of the disease; however both forms have been documented. Clinical signs may be include polyuria, polydipsia, polyphagia, lethargy, abdominal distension, muscle weakness, or recurrent urinary tract infections. Dogs may also present with dermatological signs as their primary complaint. These dermatological abnormalities may include truncal alopecia, thin skin, comedones, bruising, cutaneous hyperpigmentation, calcinosis cutis, pyoderma, dermal atrophy, secondary demodicosis and seborrhea. Abnormalities to a dogs reproductive status may also be noted and include perianal adenoma in females or castrated males, clitoral hypertrophy in female dogs, behavioural estrus in spayed females, testicular atrophy in intact males, prostomegaly in castrated males or behavioural or physical signs of testosterone excess. Common laboratory abnormalities include an elevated alkaline phosphatise, an elevated ALT, hypercholesterolemia, hyperglycemia, and a decreased BUN.
  • Fourth Joint LWPESJESPE Meeting 1993 Final Program

    Fourth Joint LWPESJESPE Meeting 1993 Final Program

    003 1-399819313305-0000$03.00/0 Vol. 33, No. 5, 1993 PEDIATRIC RESEARCH Printed in U.S.A. Copyright O 1993 International Pediatric Research Foundation, Inc. Fourth Joint LWPESJESPE Meeting 1993 Final Program FRIDAY, JUNE 4,1993 MORNING 9. Hormonal Monitoring and Side Effects of 8: 15 Opening ceremony Prenatal Dexamethasone Treatment for 21 - Fairmont Grand Ballroom Hydroxylase Deficiency Congenital Adrenal Melvin M. Grumbach, Chairman, Hyperplasia Organizing Committee SongyaPang Jo Anne Brasel, President, LWPES Department of Pediatrics Ieuan A. Hughes, President, ESPE University of Illinois College of Medicine, Chicago, IL PLENARY SESSION, I Fairmont Grand Ballroom 10. Prenatal Treatment of Congenital Adrenal 8:30 1. Lawson Wilkins Lecture: Hyperplasia Due to 21 -Hydroxylase Diabetes Mellitus, Type I - Islet Cell Deficiency: European Experience in 223 Destruction and Growth Studied in Pregnancies at Risk Transgenic Animal Models M. G. Forest Nora Sarvetnick I.N.S.E.R.M., Hopital Debrousse, Lyon, Department of Neuropharmacology France Scripps Research Institute, and LaJolla, CA H. G. Dorr Klinik fur Kinder and Jugendliche, 9:30 BREAK University Erlangen-Nurnberg, Erlangen, Germany CONCURRENT SYMPOSIA, I 11. Prenatal Treatment of Congenital Adrenal 10:OO-11:30 A.M. Hyperplasia SESSION A: Prenatal Diagnosis and P. Speiser Treatment of CAH Department of Pediatrics Fairmont Grand Ballroom The New York Hospital 10:OO 7. Molecular Pathology of 21 -Hydroxylase Cornell Medical Center, Deficiency New York, NY Tom Strachan Division of Human Genetics SESSION B: IDDM - Pharmacologic and University of Newcastle upon Tyne, UK Transplant Approaches to Therapy 10:20 8. Prenatal Diagnosis of Congenital Adrenal Mark Hopkins Peacock Court Hyperplasia Due to 21 -Hydroxylase 10:OO 12.