re: more..To Risty
Sep. 7th, 2003   5:52am

Risty, I am not familiar with the exact method that Cornall uses to do their ACTH stimulation test - perhaps someone who is familiar with their procedure for children, may be able to respond. Usually the test is done in the morning between 8-10am, however, again the Cornell protocol may be different.

Plasma Renin levels are usually done in addition to the ACTH stimulation test, to clarify salt-wasting status.

In response to your questions, I will paste a table from a paper, which gives a general idea of features and ranges expected, in the various degrees of severity, found in CAH. The paper from which this table comes is written by: Perrin C. White and Phyllis W. Speiser entitled, ’Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency’, from Endocrine Reviews, Vol 21(3), pages 245-291.

 Characteristics of different clinical forms of 21-hydroxylase deficiency

Phenotype:Classic salt wastingClassic simple virilizingNonclassic

Age at diagnosisNewborn-6mNewborn-1m2–4 yNewborn-2 yChild-adultChild-adult
GenitaliaNormalAmbiguousNormalAmbiguousNormal{uparrow} clitoris
Aldosterone{downarrow}NormalNormal
Renin{uparrow}May be {uparrow}Normal
Cortisol{downarrow}{downarrow}Normal
17-OH-progesterone>20,000 ng/dl>10,000–20,000 ng/dl1,500–10,000 ng/dl (ACTH-stimulated)
Testosterone{uparrow} In pre-puberty only{uparrow}{uparrow} In pre-puberty only{uparrow}Variably {uparrow} in pre-puberty onlyVariably {uparrow}
TreatmentGlucocorticoid mineralocorticoid ( sodium)Glucocorticoid ( mineralocorticoid)Glucocorticoid, if symptomatic
Somatic growth-2-3 SD, husky-obese-1-2 SD?-1 SD
Incidence1/20,0001/60,0001/1000
Typical mutationsDeletionI172NV281L
Large conversionnt 656gP30L
nt 656g ("intron 2 g")
G110{Delta}8nt
I236N/V237E/M239K
Q318X
R356W
% Enzymatic activity0120–50

Megan
Rare Disease Search Engine, Homeschool Sites, Online Homeschool, Online Income, Ethical Adsense, Creative writing, Family Web Hosting, Christian Radio, Tulsa Parks