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Latent adrenal hyperplasia. Treatment?

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General & Family Physician
Practicing since : 1980
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latent adrenol hpperplasia
Posted Wed, 23 May 2012 in Thyroid Problem and Hormonal Problems
 
 
Answered by Dr. Rahul Tawde 12 hours later
Dear,
I'm not sure what is your query.your symptoms like migraine, fatigue and low libido are nonspecific and donot point any specific endocrine problem. there is nothing like latent adrenal hyperplasia. But there is a condition called as late onset congenital adrenal hyperplasia. i'm not sure this is what you are referring to. please explain your problem and your questions in more detail so that I can help you.
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Follow-up: Latent adrenal hyperplasia. Treatment? 18 hours later
she has had these symntoms since childhood. she is adopted so we knew there was most likely diabetes in her biological family. Did not hold her head up until she was a year old walked when she was 18 months. she was 8 weeks early and weighed 3 lbs. tubes starting 8 months with allergy and bronical problems. She had 7 set of tubes until she was 13 years old. double eye surgery at age 4. car sickness or motion sickness everytime she got in the car she would vomit. very frail very low weight gain no energy at all. at about 8 years old she started having migraines, low blood sugar with fainting very low energy. in the marching band age 10 years old she would just fall out while practicing and I would take her to the doctor and told them all these things they did blood work and they just felt she was fine. sugar was 48, 58 so many times and it was oh well she has hypogloxymia no big deal. when she started puberty it got much worse hospital stays with migraines 2 times a month or more enerygy going down more often with vision loss. in college, same thing and it was tought she was studying to be an RN. best colleges we had here in tennessee. finishing her nursing degree she worked for a hospital and they would not allow her breaks on time and work them overtime. let her go when she left work one day drove her self to williamson medical center and was there two days. very dangerious situation for her to be in. she has three boys 7, 5, 3 and a girl 19 months. when se got pregnant with XXXXXXX she went down hill after that. hospital stay for migraiines, with tow stays to keep her from loosing her . bed rest last three months of pregnancy. after XXXXXXX was borned her body went hayware and migraines, lowblood sugar exhauston nausea, vision problems etc. November of last year she was in the hospital two times for this and in December 2011 she was in 4 times and had home health at home for two weeks. when she eats, it is hard to digest food and she sweats as her body digest. noted that for last month. her body is now near to shutting down. she has a great endocrinologist and she has just diagnosed this. Low cortisol and a harmone not working properly. she also diagnosed her with the diabetic gene and told us the dark spots on her knuckles and hands was a good sign of that. the doctor said it is called latent, because, she has had it since birth and the years have worn her body out. it is genetic also. her body is not making any cortisol. I have spent years trying to get someone to help with her problem and got no where, becasue, blood work was with levels that is set for everyone. I begged them to go further and have all the testing for low blood sugar etc, because, I knew what she had was actually killing her and it almost has.
the doctor is going to put her on medication and she will see her in 3 weeks. she did not provide the results for us and It took me a long time to find it on the internet myself and it did not say much. it is a gene inherited and if a female gets pregnant by a male that has the same gene, which, is one in millions, then the girls get the disease. We are now very concerned about her 19 month old daughter and I will not allow her to go thru what her mom has gone thru for basically for 30 years.
Hopefully what I have given you now will help you get me the information. Thanks so much. Dot
 
 
Answered by Dr. Rahul Tawde 5 hours later
Based on your explanation I think you are referring to non classic or late onset congenital adrenal hyperplasia which is a genetic problem but can manifest later. Manifestations of this problem in female children include ambiguous genitalia, hyperpigmentation of genitalia, hirsutism, XXXXXXX boyish behavior and short stature. When severe it can cause manifestations of adrenal insufficiency like the ones your daughter used to have like fatigue, weight loss, indigestion , hypoglycemia, darkening of skin, mental instability and masculine facial features. If the father is not carrying the gene then the 19 month old daughter of her stands only a remote chance of getting this problem from the mother in its full form, but she still can be a carrier of the gene which results in a very mild manifestation compared to the complete form.
All that I want to suggest you at this point in time is you be patient till the genetic and hormonal tests of father and daughter are out. With early diagnosis and treatment most of the issues related to it can be taken care of. Be rest assured that her 19 month old daughter is not affected by the complete form of this disease because it would have then been diagnosed soon after birth by a newborn screening test routinely done in all newborns now a days.
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Follow-up: Latent adrenal hyperplasia. Treatment? 15 hours later
She does not have any of the manifestations you talk about ambiguous genitalia, hyperpigmentation of genitalia, hursutis, XXXXXXX boyish behaver and short stature. Already found that myself and no systoms what so ever congental adrenal hyperplasia. I would have definitely noticed this as an infant and so would have the doctors. I found what you are talking about on line several days ago at National Library of Medicine National Instituttes of Health A.D>A>M> medical encyclopedia, atlanta Ga. 2011. DOES NOT FIT THE DESCSRIPTION i GAVE YOU. she has four children and no problems getting pregnant. I would like for you to further research this. I have all the information you have given me. Latent Adrenol Hyperplasia is cosidered late in life, correct? and it is considered less likely to create extreme problems late in life correct? I see 21 hydroxylase and I see 17 hydroxylase what does that mean? Please help,
 
 
Answered by Dr. Rahul Tawde 6 hours later
21 hydroxylase and 17 hydroxylase are 2 enzymes which when mutated cause congenital adrenal hyperplasia(CAH). 21 hydroxylase deficiency is the most common form of CAH. It can present in 2 forms- Classic and nonclassic forms. Non classic form is also known as late-onset congenital adrenal hyperplasia. The manifestations like ambiguous genitalia are seen in classic forms(complete form). Girls born with Non classic form have normal genitals but can still be picked up by neonatal screening blood tests. Non classic form basically presents later in life with any of the following
Early, rapid growth spurt, but ultimately short stature as adult
Premature development of body hair and puberty
Acne, irregular periods and hirsutism
Mood swings, weakness and sometimes infertility
It is compatible with long life and doesnot lead to extreme problems anytime in life.

Non classic CAH is the most common form of the so called latent adrenal hyperplasia. There are other rare variants which can present just with weakness, lethargy, failure to thrive, digestion problems, repeated infections or allergy, inability to withstand stress etc, without any manifestations related to genitals.But these are quite rare and manifestations are so non- specific that anything short of diligent and extensive blood tests wont pick them up. its possible that your daughter was diagnosed with one of these rare conditions based on these special blood tests.
I wouldnt be able to say with confirmation what it could be because manifestations are not specific to single condition, but general outline I have given still apply.
Since your daughter is now diagnosed family sreening will definitely be done and her children if affected will definitely be treated early unlike her. So i think you should stop bothering and i can assure you that latent forms of adrenal hyperplasia donot cause any serious or bothering problems related to performance and well being when treated properly.
Above answer was peer-reviewed by
 
Follow-up: Latent adrenal hyperplasia. Treatment? 19 hours later
Thank you so much. Her special blood test did come back Latent Adrenal Hyperplasia. She still has testing to come back. She is trying a medication (small amount) dexamethasone and she goes back in three weeks. Yes, she did have the failure to thrive we thougt we was going to lose her before she got 18 months and all the other things infections migraines, hypogloxmia,fatique, lethargy, allergies stress. She had to be on a low dose of sufer drug until she was two.
All of know is that I could not get the doctors to understand that there was something harmonal and it was taking her down. I know my own child and she has lived a life of pain and exhaustion all her 31 years. She is very smart book wise, but, she could never do exhausting sports and the band was extremely tuff and she sat out a lot. The main thing I am now concerned about is this medication is a steriod and steriods make you moody, gain weight and to much can kill your body. Am I wrong about that? Also, when she started her menstraul at 11 she began to faint and the migraines and when she got married Dec 2002 it got even worse. In May 2002 she had a Varicella IGG Rubeola blood test that was positive - 2.00. It should have come back no more than 0.91. The Varicella IGG came back with results of 78 (Reference Range For Varicella-Zoster ABS) greater than 15 positive.
When I was doing my research I found that this virus was found in many illness, EVEN IN MS and many others. She had the rubella shot again when she entered college the year September 2000. Would this results be caused by the Rubella shot?
After she had her first baby in 2005 boy, 2007 boy 2009 boy it still got worse, however, when she got pregnant with XXXXXXX it rare it head big time 6 hospital stays and bed rest last 4 months. After her birth, which was Sept 2010 she has been going down hill fast with her health. Many many stays in the hospital and no one still directed us to have these test. In December 2011 I was determined, I had to locate the best specialist at vanderbilt in Cardiology, Nuerology and Endocronolgy and go around the MD's Medical Doctors here have a hard time referring to the specialist. And to sum it up that is why I got on line to ask a specialist about what we had found out to make sure we was headed in the right direction.
I really wish someone would write a book in regard to these harmones. I know My daughter would have had a much shorter life span if we had not got to the bottom of this and I still don't really know what to expect will come in the next weeks. The biggest thing she and I want from all this is more energy so everyone won't say she is lazy and that everyone will understand she has a health problem. I have got to say it, it was me that had the problem according to all the peditricians and medical doctors and that hurt she and I both. Oh, well, thanks again, I am going to make sure I get this to the many friends I have that have a lot of the same issues my daughter had and has had since birth.
 
 
Answered by Dr. Rahul Tawde 4 hours later
Small dose of dexamethasone wont cause much side effects in these patients. Periodic check ups are done to look for any of these problems.
i'm afraid i'm not an expert to comment about varicalla and rubella infections.
CARES foundation is an organisation which provides support and education for CAH patients. You can go thru that website.
If no further queries please close the the question.
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