Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry

Pediatrics
M P WajnrajchA D Auerbach

Abstract

1) To determine the extent of short stature in patients with Fanconi anemia (FA); 2) to determine the extent and nature of endocrinopathy in FA; 3) to assess the impact on height of any endocrinopathies in these patients; and 4) to study the correlation, if any, between height, endocrinopathy, and FA complementation group. Fifty-four patients with FA, 30 males and 24 females from 47 unrelated families, were prospectively evaluated in a Pediatric Clinical Research Center. The patients ranged in age from 0.1-31.9 years, with the mean age at assessment 8.6 years. Endocrine abnormalities were found in 44 of the 54 FA patients tested (81%), including short stature, growth hormone (GH) insufficiency, hypothyroidism, glucose intolerance, hyperinsulinism, and/or overt diabetes mellitus. Twenty-one of 48 (44%) participants had a subnormal response to GH stimulation; 19 of 53 (36%) had overt or compensated hypothyroidism, while 8 of 40 participants had reduced thyroid-hormone binding. Two patients were diabetic at the time of study; impaired glucose tolerance was found in 8 of 40 patients (25%), but most surprisingly, hyperinsulinemia was present in 28 of 39 (72%) participants tested. Significantly, spontaneous overnight GH secretion was...Continue Reading

Citations

Oct 19, 2007·Zeitschrift für Gerontologie und Geriatrie·K NevelingH Hoehn
Nov 2, 2004·Familial Cancer·David I Kutler, Arleen D Auerbach
Aug 22, 2008·Indian Journal of Pediatrics·Mohammad Al-HaggarAbeer Mesbah
Mar 11, 2010·International Journal of Hematology·Azamsadat MousaviFarnaz Amouzegar Hashemi
Mar 27, 2009·The Journal of Biological Chemistry·Cédric S TremblayMadeleine Carreau
Apr 25, 2007·The Clinical Neuropsychologist·Ida Sue BaronJennifer C Gidley Larson
May 9, 2006·Journal of Pediatric Hematology/oncology·Ana Claudia Galvao de Aguiar KoubikAntonio Adilson Soares de Lima
Jan 15, 2003·Journal of Medical Genetics·M D Tischkowitz, S V Hodgson
Nov 13, 2004·Hormone Research·Charles A Sklar
Nov 2, 2012·The Journal of Clinical Investigation·Younghoon Kee, Alan D D'Andrea
Apr 23, 2005·Journal of Pediatric Endocrinology & Metabolism : JPEM·Michael P Wajnrajch
Jan 11, 2014·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Lucia Fátima de Castro AvilaMarina de Oliveira Ribas
Jun 28, 2012·Anemia·Tagrid Kaddar, Madeleine Carreau
Nov 30, 2007·Annales d'endocrinologie·F LamineC Ben Slama
Dec 21, 2004·American Journal of Hematology·Deniz AslanTurkiz Gursel
Nov 14, 2012·Expert Review of Hematology·Angela R Smith, John E Wagner
Sep 11, 2012·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·J LanneauxJ-H Dalle
May 26, 2009·Mutation Research·Kornelia NevelingDetlev Schindler
Jul 23, 2009·Mutation Research·Arleen D Auerbach
Mar 6, 2007·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·Christine TrivinRaja Brauner
Sep 24, 2004·Pediatric Blood & Cancer·Blanche P Alter
Aug 19, 2004·American Journal of Medical Genetics. Part a·Robert I SteinJill Hamilton
Aug 22, 2006·Paediatric Anaesthesia·Rebecca Jacob, Thiruvenkatarajan Venkatesan
Apr 12, 2011·Pediatric Blood & Cancer·Susan R RoseFranklin O Smith
Feb 2, 2012·Pediatric Blood & Cancer·Susan R RoseStella M Davies
Jan 1, 2014·Pediatric Blood & Cancer·Gregory P ForlenzaAnna Petryk
Sep 11, 2013·Pediatric Blood & Cancer·Susan R RoseFranklin O Smith
Oct 3, 2006·Journal of Cataract and Refractive Surgery·Mostafa A ElgoharyRichard P Wormald
May 23, 2006·Journal of the American Academy of Dermatology·Marisa BraunEdward W Cowen
Jan 29, 2003·Human Mutation·Arleen D AuerbachUNKNOWN International Fanconi Anemia Registry
Jun 19, 2015·Journal of Pediatric Hematology/oncology·Alexandra Schifferli, Thomas Kühne
Jan 17, 2015·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·Anna PetrykMargaret L MacMillan
May 4, 2002·Best Practice & Research. Clinical Endocrinology & Metabolism·Jesús Pozo, Jesús Argente
May 18, 2016·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·Jessie L BarnumMargaret L MacMillan
Dec 3, 2008·Ecotoxicology and Environmental Safety·Mehmet Buyukleyla, Eyyup Rencuzogullari
Dec 15, 2017·BioMed Research International·Benilde García-de TeresaSara Frías
Jul 9, 2004·British Journal of Haematology·Marc Tischkowitz, Inderjeet Dokal
Jul 11, 2018·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Mélody MazonMadeleine Carreau
Oct 19, 2004·Bone Marrow Transplantation·J H DalleM A Champagne
Jul 8, 2005·European Journal of Haematology·Giovanni PaganoAdriana Zatterale
Oct 24, 2002·Blood·David I KutlerArleen D Auerbach

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

The Journal of Clinical Endocrinology and Metabolism
Neelam GiriConstantine A Stratakis
Archives of Disease in Childhood
A Aynsley-GreenA Prader
Pediatric Blood & Cancer
Rosa Sherafat-KazemzadehFanconi Anemia Comprehensive Care Center
© 2021 Meta ULC. All rights reserved