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Doctor insights on: Adult Onset Congenital Adrenal Hyperplasia

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Can late onset congenital adrenal hyperplasia present itself with hyper pigmentation?

Can late onset congenital adrenal hyperplasia present itself with hyper pigmentation?

Addison's disease: Your history says you have addison's disease (adrenal insufficiency), which is not the same as congenital adrenal hyperplasia. Addison's disease can definitely present with darkening of the skin. Other symptoms can be found here: http://www.Mayoclinic.Com/health/addisons-disease/ds00361/dsection=symptoms. ...Read more

Dr. Vered Lewy-Weiss
66 doctors shared insights

Congenital Adrenal Hyperplasia (Definition)

A collection of genetic conditions that limit your adrenal glands' ability to ...Read more


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Can late onset congenital adrenal hyperplasia be confused with addison's or have both?

Can late onset congenital adrenal hyperplasia be confused with addison's or have both?

Yes and no: Both can present with low blood sodium and high potassium and increased pigmentation, but further testing can separate the diagnosis. Addison's by itself in children is very rare. ...Read more

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How long should congenital adrenal hyperplasia last?

How long should congenital adrenal hyperplasia last?

Forever: This is a lifelong genetic issue. Medication & monitoring can decrease the impact on one's life, but it is not like a pneumonia, it doesn't go away after treatment. ...Read more

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What symptoms does someone with congenital adrenal hyperplasia have?

What symptoms does someone with congenital adrenal hyperplasia have?

CAH: This is due to the lack of an enzyme needed for the adrenals to make cortisol and aldosterone. The body then uses the precursors to make androgen (male hormones) instead. Symptoms for girls: deep voice, abnormal menstruation, early appearance of pubic/armpit hairs, genitials looking both male and female...For boys: deep voice, enlarged penis, small testes, early appearance of pubic, armpit hair... ...Read more

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Can you tell me what is congenital adrenal hyperplasia in simple words?

Yes: These people have a gene that makes it hard to make the necessary hormone cortisol, and the molecules get shunted into producing masculinizing hormones instead. The adrenals are big. In mild cases, it simply produces extra body hair in women. In severe cases, a little girl's genitals are ambiguous from birth, or a little boy reaches puberty at a very early age. ...Read more

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Is it possible that i fight the symptoms of congenital adrenal hyperplasia?

Unclear question: You did not provide any symptoms or signs and it is not feasible to answer the question without examining you and doing some blood tests. Please consult a doctor for an evaluation. ...Read more

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What are the symptoms of congenital adrenal hyperplasia and can I fight them?

What are the symptoms of congenital adrenal hyperplasia and can I fight them?

Hormone imbalance: Deficiency of 21 hydroxylase enzyme results in reduced synthesis of gluco- and mineralo- corticoids and excess production of male sex hormones. There is not way to "fight" the disease, but it can be treated with glucocorticoids, e.g., predinisolone. The defect causes virilization in girls an pre-mature puberty in boys. ...Read more

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Can you tell me what is congenital adrenal hyperplasia and its effects and cause?

Genetic defect: There is more than one type of inherited enzyme defect that results in lack of normal adrenal hormones and enlargement of the gland. It results in electrolyte abnormalities and defects of sex organs. See this site for more info. http://www.mayoclinic.com/health/congenital-adrenal-hyperplasia/ds00915. ...Read more

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How do you prevent congenital adrenal hyperplasia?

Genetic testing: Congenital adrenal hyprplasis is an inherited disorder. Genetic screening can detect persons with the abnormal gene. Prenatal diagnosis can be made. Please consult this site for more information. http://www.nlm.nih.gov/medlineplus/ency/article/000411.htm. ...Read more

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How to treat congenital adrenal hyperplasia quickly?

?Quickly?: The diagnosis implys a genetic abnormality that will last a lifetime.It can be managed over time with the aid of metabolic disease specialists working in conjunction with your local source of health care. Daily medication & scheduled followup tests and exams will gauge the progress. ...Read more

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What does congenital adrenal hyperplasia cah look like?

What does  congenital adrenal hyperplasia cah look like?

Virilization: In the classic form newborn girls will often have ambiguous looking genitalia because of intrauterine exposure to their own overproduction of androgens. Can't really see it in a newborn boy. In non-classical early pubic hair in both sexes can be presenting feature. As kids grow older other things may warrant checking like recalcitrant acne (both sexes) or irregular periods/hirsutism in girls. ...Read more

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How to treat non-classical congenital adrenal hyperplasia?

How to treat non-classical congenital adrenal hyperplasia?

Male or Female?: This would depend on the age and sex of the patient in addition to the degree of severity. If cortisol response is normal and a male is affected, often times steroid suppression is stopped after puberty. This is more complicated in females who may otherwise suffer from irregular periods, hirsutism, recalcitrant acne. They may need treatment through adulthood. Please discuss with endocrinologist. ...Read more

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What are symptoms of congenital adrenal hyperplasia in girls?

What are symptoms of congenital adrenal hyperplasia in girls?

It varies: Persons with the most common form of congenital adrenal hyperplasia (cah) have a predisposition to make extra testosterone. For girls can manifest as genitalia that is "masculinized" before birth and therefore "ambiguous" at birth. Some girls can also have "salt wasting". Girls can also have somewhat masculinized behaviors. Testosterone levels can be lowered by therapy. www.caresfoundation.org. ...Read more

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Could my son be born with cah congenital adrenal hyperplasia?

Could my son be born with cah congenital adrenal hyperplasia?

Oh, now i know CAH: Previous answer, i thought it meant chronic active hepatitis. Yes, a girl or boy can be born with cong adrenal hyperplasia; this refers to a group of inherited disorders of the adrenal gland, where there is a lack of a hormone needed to make certain steroid hormones. Male sex characteristics may appear earlier than normal. Time for a pediatric endocrinologist, if there is any question of this. ...Read more

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My 9 month old has been diagnosed with congenital adrenal hyperplasia. How was it inherited?

My 9 month old has been diagnosed with congenital adrenal hyperplasia. How was it inherited?

Autosomal recessive: You and the baby's father are both carriers for this disorder. Therefore neither of you actually has it. Please get genetic counseling because your next children will all have a 25% chance of being born with cah. Should your child want children of his/her own, all of them will be carriers. Cah would only happen in your grandchild if your daughter/son's partner is also a carrier or has cah. ...Read more

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Should i be concerned if my 9 month old has been diagnosed with congenital adrenal hyperplasia.?

Yes, but there is: Effective treatment. You should be concerned but know that the disorder can be treated and you should follow your doctor's advice closely. Please read the information on this site for reassurance and advice. http://www.mayoclinic.com/health/congenital-adrenal-hyperplasia/ds00915. ...Read more

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Please help us. Our boy has congenital adrenal hyperplasia. What can we do to learn more about it?

Please help us. Our boy has congenital adrenal hyperplasia. What can we do to learn more about it?

Start @endocrinology: Usually, children with congenital adrenal hyperplasia are referred to a pediatric endocrinologist for initial assessment and management--not all cases are the same! it is an ongoing condition that you will need to become familiar with--and you will, with time. There are reputable internet resources such as webmd that may help, and the endocrinologists also probably have some resources for you. ...Read more

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Who has congenital adrenal hyperplasia?

Enzyme deficiency: Deficiency of 21 hydroxylase enzyme needed for synthesis of gluco- and mineralo-corticoids causes excessive production of sex hormones, mainly male sex hormones. The result is endocrine disturbance in both boys and girls and virilization in girls. ...Read more

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What is congenital adrenal hyperplasia?

Enzyme defeciency: This disease results from deficiency of an enzyme, 21 hydroxylase, that is essential for synthesis of adrenal hormones. Block in the synthesis of glucoroticoids causes excess production of male sex hormones. See this site for more information. http://www.ncbi.nlm.nih.gov/pubmedhealth/pmh0001448/. ...Read more