Congenital adrenal hyperplasia diagnosis

As discussed above, in the case of phenylketonuria, early intervention can make the difference between mental retardation and a near normal life course for a newborn. Congenital adrenal hyperplasia and maple syrup urine disease are two examples of neonatal hereditary disorders where early diagnosis and medical intervention can make the difference between life and death for the newborn. In addition, in a number of genetic diseases, early diagnosis and treatment can help ameliorate symptoms these include fragile X syndrome, homocystinuria, sickle cell anemia, cystic fibrosis, and many /1-thalassemias. 

Caulfield MP, Lynn T, Gottschalk ME, Jones KL, Taylor NF, Malunowicz EM, Shackleton CH, Reitz RE, Fisher DA (2002) The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens. J Clin Endocrinol Metab 87 3682-3690... 

Honour JW, Anderson, JM, Shackleton, CH (1983) Difficulties in the diagnosis of congenital adrenal hyperplasia in early infancy the 1 l/ -hydroxylase defect. Acta Endocrinol (Copenh) 103 101-109... 

Joannou GE (1981) Identification of 15/5-hydroxylated C21 Steroids in the neo-natal period the role of 3a,15/),17a-trihydroxy-5/ -pregnan-20-one in the perinatal diagnosis of congenital adrenal hyperplasia (CAH) due to a 21-hydroxylase deficiency. J Steroid Biochem 14 901-912... 

Mercado AB, Wilson RC, Cheng KC, et al. Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency. / Clin Endocrinol Metab 80 2014-... 

New ML Antenatal diagnosis and treatment of congenital adrenal hyperplasia. Curr Urol Rep 2001 2 11-8. 

Speiser PW. Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia implications for genetic counseling. Am J Pharmacogenomics 2001 1 101-10. 

Concolino P, Mello E, Zuppi C, Capoluongo E (2010) Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency an 2421. update of new CYP21A2 mutations. Clin Chem... 

A 35-year-old woman who was taking dexa-methasone and fludrocortisone replacement for congenital adrenal hyperplasia and with biochemical evidence of good control started to take topiramate 100 mg/day for atypical seizures. Within a few weeks she complained of tiredness, nausea, weight loss, and muscle aches. A diagnosis of hypoadrenalism was supported by raised plasma 17-hydroxyprogesterone, adre-nocorticotrophin, and plasma renin activity. 

Saenger P, Klonari Z, Black SM, Compagnone N, Mellon SH, Fleischer A, Abrams CAL, Shackleton CHL, Miller WL (1995) Prenatal diagnosis of congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 80 200-205... 

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