CAH 21 hydroxylase deficiency and pituitary tumor
Dec. 23rd, 2002   4:56pm
Diagnosed with CAH at age 25. Did well on 0.5 mg dex...improved mood swings, facial hair growth, erratic periods, but still had mild hypertension....which is odd since 21 hydroxylase defieciency usually doesn’t exhibit hbp, or so I’ve been told. Genetic mapping done in April 2002 proved 21 hydroxylase with 6 mutations. Unfortunately, since November of 2000, I’ve been very ill with severe hypertension (170-220/110-140), which is uncontrolled on many meds, tachychardia (up 10 160 beats per minute), migraines with nasuea & vomiting almost daily, insomia, anxiousness, fatigue, hirstuism, weakness in upper legs, frequent colds and viruses, pain in rib area, bruising, etc. Labs and tests showed the following: 17 Oh-Progesterone: as high as 17,000, 17-ketosteriods urine: all very elevated except DHEAs,  androstenedione: 350,  renin: 20-48, aldosterone: 40-60’s, cortisol: 25-47 am, 15-20’s pm, ACTH:75-105, urinary free cortisol: almost double normal. Ruled out reninoma with 2 central venous samplings, since renin was equally high everywhere; ruled out renal artery stenosis with 2 MRA studies and arteriogram (but did find scar tissue in kidneys and tiny calcium deposits from passing many kidney stones as a teen, possibly adding to renin problem); ruled out pheochromcytoma with just slighly elevated plasma catecholamines and metanephrines. So, after 16 docs...everyone is puzzled, especially with a cortisol of 28, when my 17-OH was 14,000...and ACTH at 103. That’s when an MRI of the head found a 5mm microadenoma. Since the labs indicate possible acth secreting tumor...was wondering if this sounds familar to anyone out there with CAH-21 hydroxylase deficiency? Many thanks!
Gus
Rare Disease Search Engine, Homeschool Sites, Online Homeschool, Online Income, Ethical Adsense, Creative writing, Family Web Hosting, Christian Radio, Tulsa Parks