Doctor insights on:
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...See 1 more doctor answer
Classic or non?: Classic cah is diagnosed mostly on newborn screening. It results from a block in the synthesis of cortisol and usually also aldosterone. Females will often have ambiguous genitalia. Males don't look different. Permanent replacement with Hydrocortisone & Fludrocortisone (may not need past childhood) are needed for sustaining life and salt balance. Pediatric endocrinologists follow very closely.See 1 more doctor answer
Yes: Persons with the most common form congenital adrenal hyperplasia (cah) have a predisposition to making extra testosterone. For girls this can manifest as genitalia that is "masculinized" before birth and therefore "ambiguous" at the time of birth. Girls can also have somewhat masculinized behaviors. The testosterone levels can be lowered by therapy. Boys do not have genital or behavioral issues.
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.
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.
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.
Can my heterozygotes status of congenital adrenal hyperplasia (21-Hydrolaxe deficiency, salt-wasting) explain hirsurtism & symptoms like polydipsia?
Maybe: Hydroxylase deficiency is actually a continuum, and there are many alleles. A workup is probably not worthwhile. Manage unwanted body hair with electrolysis or lasers -- you're doing yourself a favor. If your urinalysis (chemical, sediment), renal functions (BUN, creatinine) and concentrating ability (SG >1.020) while thirsty) are normal, I would not recommend further studies.
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.
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/.
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.
Missing enzyme: There are different types. They all involve a deficiency of an enzyme needed in cortisol production. Since the pituitary senses there isn't enough cortisol, it keeps trying to make the adrenals make cortisol. But because that enzyme is missing, the building blocks of cortisol build up. These substances get turned into androgens - male hormones - and cause abnormalities in sexual development.See 2 more doctor answers
1:15,000: Cah is found in 1 of every 15, 000 live births.
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.
See below: It is a collection of genetic conditions that limit your adrenal glands' ability to make certain vital hormones. In most cases of congenital adrenal hyperplasia, the adrenal glands don't produce enough cortisol. The production of two other classes of hormones also may be affected, including mineralocorticoids (for example, aldosterone) and androgens (for example, testosterone).
Depends on the type: Of enzyme defect and the gender of the patient. Congenital adrenal hyperplasia is a group of disorders that affect the hormones produced by adrenal gland. The disorders affect electrolyte and sex hormones and may cause ambiguous sexual organs in girls. See this site for more information. http://www.ncbi.nlm.nih.gov/pubmedhealth/pmh0001448/.
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.
Varies: This situation is extremely serious even if the illness is mild. There are various ways of treating it, but you need to discuss this with Junior's physician. I am glad it was diagnosed.
Many similarities: Women with pcos or non-classical cah can have essentially identical symptoms: irregular periods, hirsutism, even virilization, infertility, acne. Both usually have features of metabolic syndrome/insulin resistance. Non-classical cah can have precocious puberty. The test to distinguish the two is a baseline and acth stimulated 17-oh progesterone. An endocrinologist is needed for this situation.
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.
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