RT Book, Section
A1 Nakamoto, Jon
A2 Jones, Patricia M.
A2 Dietzen, Dennis J.
A2 Haymond, Shannon
A2 Bennett, Michael J.
SR Print(0)
ID 1146626093
T1 PEDIATRIC LABORATORY TESTING FOR SPECIFIC ENDOCRINE CONDITIONS
T2 Pediatric Laboratory Medicine
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9780071840996
LK accesspediatrics.mhmedical.com/content.aspx?aid=1146626093
RD 2024/04/23
AB LEARNING  OBJECTIVESExplain  the  basic  pathophysiology  of  congenital  adrenal  hyperplasia  (CAH).Name  at  least  one  pre-analytical  and  one  analytical  factor  that  can  lead  to  a  false  positive  diagnosis  of  21-hydroxylase  deficiency  (21OHD)  based  on  measurement  of  17-hydroxyprogesterone  (17OHP).Discuss  the  methodologic  advantages  of  steroid  assays  (immunoassay  or  mass  spectrometry)  that  involve  upfront  sample  purification  by  extraction  and  chromatography.Define  the  term  “gene  conversion”  and  describe  its  importance  in  the  etiology  of  21OHD.State  the  rationale  for  newborn  screening  for  classical  21-hydroxylase  deficiency  (21OHD).Outline  the  essential  steps  to  the  evaluation  of  a  short  or  poorly-growing  child.Understand  why  random  measurement  of  growth  hormone  is  rarely  useful.Explain  how  biological  and  analytical  variability  contribute  to  both  low  diagnostic  sensitivity  and  specificity  of  laboratory  testing  for  growth  hormone  deficiency.Name  at  least  two  reasons  why  different  growth  hormone  assays  can  yield  widely  different  results  from  the  same  patient  sample.Identify  the  difficulties  in  establishing  reference  intervals  for  insulin-like  growth  factor  I  (IGF-I).