TY  - CHAP
M1  - Book, Section
TI  - Adrenal Insufficiency
A1  - Melcescu, Eugen
A1  - Koch, Christian A.
A2  - Murray, Michael F.
A2  - Babyatsky, Mark W.
A2  - Giovanni, Monica A.
A2  - Alkuraya, Fowzan S.
A2  - Stewart, Douglas R.
PY  - 2014
T2  - Clinical Genomics: Practical Applications in Adult Patient Care
AB  - Disease  summary:Adrenal  insufficiency  is  caused  by  a  defective  production  of  adrenal  hormones  due  to  a  primary  disorder  of  the  adrenal  gland  or  dysregulation  of  the  hypothalamic-pituitary-adrenal  axis.Hereditary  factors  have  been  known  to  play  a  role  in  developing  this  condition.Adrenal  insufficiency  is  categorized  as  primary  (failure  of  the  adrenals  to  produce  cortisol  and/or  aldosterone  and/or  androgens),  secondary  (deficient  production  of  pituitary  adrenocorticotropic  hormone  [ACTH]),  or  tertiary  (impaired  production  of  corticotropin-releasing  hormone  [CRH]  by  hypothalamus)Primary  adrenal  insufficiency  is  classified  asAutoimmune—polyglandular  syndromes  type  1,  2,  or  other  autoimmune  conditionsInfectious—Waterhouse-Friderichsen  syndrome  (Neisseria  meningitidis,  Mycobacterium  tuberculosis,  Streptococcus  pneumoniae,  cytomegalovirus,  histoplasmosis,  etc)Bilaterally  metastatic  disease:  lung,  breast,  gastrointestinal  carcinomasVascular-bilateral  adrenal  hemorrhage  (hemorrhagic  diathesis,  trauma)Genetic  syndromes  related  to  deficiency  of  enzymes  in  steroidogenesis  and  cholesterol  metabolism,  transcription  factors,  storage  diseases,  corticotropin  receptor  and  signaling,  sterol  secretion,  etcMedications:  mitotane,  aminoglutethimide,  ketoconazole,  metyrapone,  mifepristone  RU486,  megestrol,  rifampicin,  anticonvulsants  (phenytoin),  and  othersSecondary  adrenal  insufficiency  causesHypopituitarism  (congenital,  acquired,  primary  or  metastatic  tumor,  radiation)Iatrogenic  (high-dose  glucocorticoid  therapy)Clinical  presentation  of  adrenal  insufficiency  is  variable.  Based  on  the  causative  factors  various  clinical  expressions  of  the  disease  have  been  observed.  The  condition  may  have  an  abrupt  or  gradual  onset  or  may  appear  in  childhood  or  late  in  life.Hereditary  basis:Conditions  inherited  in  an  autosomal  recessive  pattern21-hydroxylase  deficiency  (the  most  common  form  of  congenital  adrenal  hyperplasia  (CAH)17-alpha-hydroxylase  deficiency(50%  of  patients  do  not  have  mutations  in  the  MC2R  gene)Triple  A  syndromePolyglandular  autoimmune  syndrome  type  1SitosterolemiaZellweger  syndromePanhypopituitarism:  HESX1,  OTX2,  LHX4,  PROP1,  TBX19Condition  inherited  in  an  autosomal  dominant  inheritanceGlucocorticoid  receptor  deficiencyCondition  inherited  in  an  X-linked  recessive  patternCongenital  adrenal  hypoplasia  (X-linked)Congenital  adrenal  hypoplasia  (SF1  linked)AdrenoleukodystrophyHyperglycerolemiaPanhypopituitarism:  SOX3  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/16
UR  - accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102701590
ER  -