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Suggest Treatment For Congenital Adrenal Hyperplasia

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Posted on Wed, 28 May 2014
Question: Hi sir,My baby is 12 days old and got 330 ng/ml in 17 OH test ,blood collected on the first day of the birth,Is the baby is suffering with congenital adrenal hyperplasia .As of now baby is taking mother milk without any problem,no vomiting,no diarrhea. Please reply me.

ay born with dark pigmentation and ambigusous genitalia.Doctor suspected CAH and they sent samples for 17OHP test and report say 330ng/mL is the 17OHP level.My wife used medicines when she was pregnant.For travelling from my work place to home town doctor had given hormone injection which can avoid miscarriage.My wife suffered from sever pain in stomach and cough,for that she used medicines for 3 months.
17 OHP is the only measure for CAH or any other tests are there.Ambiguous genitalia and high 17OHP can happen because of the medication.Please suggest what are the tests available to find Congenital Adrenal Hyperplasia.
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Answered by Dr. Minal Mohit (1 hour later)
Brief Answer:
most likely she has CAH.

Detailed Answer:
Dear sir, Very sorry to hear all, but the fact remains that a female child born with ambiguity, most likely cause is CAH.

To confirm CAH first test is 17 (OH) P. A high 17(OH)P is most likely CAH. To further confirm we do a fasting cortisol value and ACTH. But if the treatment has already started, which doctors usually do without wasting time in CAH cases, then cortisol and ACTH will not help. Then only monitoring with 17 (OH) P is followed. Serum electrolytes is another thing to monitor regularly, as she must be getting fludricortisone as well.

Regards!
Note: For more information on hormonal imbalance symptoms or unmanaged diabetes with other comorbid conditions, get back to us & Consult with an Endocrinologist. Click here to book an appointment.

Above answer was peer-reviewed by : Dr. Prasad
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Answered by
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Dr. Minal Mohit

Endocrinologist

Practicing since :1998

Answered : 836 Questions

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Suggest Treatment For Congenital Adrenal Hyperplasia

Brief Answer: most likely she has CAH. Detailed Answer: Dear sir, Very sorry to hear all, but the fact remains that a female child born with ambiguity, most likely cause is CAH. To confirm CAH first test is 17 (OH) P. A high 17(OH)P is most likely CAH. To further confirm we do a fasting cortisol value and ACTH. But if the treatment has already started, which doctors usually do without wasting time in CAH cases, then cortisol and ACTH will not help. Then only monitoring with 17 (OH) P is followed. Serum electrolytes is another thing to monitor regularly, as she must be getting fludricortisone as well. Regards!