Doctor insights on:
Congenital Adrenal Hyperplasia 21 Hydroxylase Deficiency
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.
Can my carrier status of congenital adrenal hyperplasia (21-Hydrolaxe deficiency, salt-wasting) explain my high basal cortisol?
No: Spot "basal cortisol" levels mean nothing except in context. They help rule some things in and some things out. The highest basal cortisol levels have been found in soldiers in the battlefield and medical students in exams. Ignore all "pop" sites relating to pituitary / adrenal disease and remember that reference ranges are set so that many healthies fall outside on either end.
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).
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.
?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.
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.
Yes: There are many different types of cah. They cannot be cured - but the side effects of each - hyper or hypotension, hirsutism or virilization, etc can all be controlled by blocking the over or underactivity of the pathway steroids leading to cortisol, aldosterone and sex hormone production.See 1 more doctor answer
Congenital adrenal hyperplasia -non classical kind, what are some remedies to help with side effects of disease and medicine like steroids?
Adrenal hyperplasia: The commonest type of congenital adrenal hyperplasia is caused by deficiency of 21 hydroxylase, classical type presents at birth, but non classical may present later in early childhood or during puberty.It is difficult to answer all about it, but some salt depleted patients need to be on steroids and the patints need to be monotored for other defects, it should be trated by a pediatric endocrinologist.
Symptoms only: Pcos and nccah have pretty much the same symptoms; irregular cycles and symptoms of too much male hormone. Cah however is caused by a missing enzyme and pcos is usually a metabolic problem.
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.
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
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
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
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.
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.
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.
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.
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