چاپ صفحه |  صفحه نخست سامانه |  نویسندگان |  اطلاعات تفضیلی |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| نویسنده | نفر چندم مقاله |
|---|---|
| سیامک شیوا | اول |
| عنوان | متن |
|---|---|
| کلمات کلیدی | Congenital و Adrenal وHyperplasia |
| خلاصه مقاله | Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders of cortisol biosynthesis. It is a disease with a broad spectrum of symptoms and is most commonly (95%) caused by a deficiency in the 21-hydroxylase enzyme due to mutations in the CYP21A2 gene located on chromosome 6p21.3. The types of CAH are categorized based on clinical severity: classic and non-classic (NCCAH). NCCAH is a mild form of the disease and has previously been called late-onset CAH. Late-onset CAH is a misnomer because the condition is genetic and present at birth. Individuals generally have no symptoms until late childhood, early adulthood, or in some cases remain asymptomatic throughout their lifetime. Patients with NCCAH have normal to near normal cortisol production at the expense of increased ACTH, which leads to excess androgen production. NCCAH is relatively common. but prevalence varies according to ethnicity. Anywhere from 1 in 30 Ashkenazi Jews to 1 in 1.000 non-Jewish Caucasians of mixed ethnicity may have NCCAH. În children, the most common presenting symptom is premature pubarche (87%). Both boys and girls may present with precocious development of pubic hair, acne, increased growth velocity, and advanced bone maturation. Adolescent and adult females can show signs of androgen excess, but this is virtually unnoticed in males. Other symptoms include hirsutism, acne, primary amenorrhea, menstrual dysfunction, androgenic alopecia, and infertility. Some females with NCCAH may have mild clitoromegaly but not true genital ambiguity. Symptoms of NCCAH are similar to other conditions such as polycystic ovary syndrome (PCOS). Phenotypically, NCCAH and PCOS are not distinguishable. Polycystic ovaries are a frequent finding on ultrasound in women with NCCAH. PCOS is a much more common diagnosis in women with hyperandrogenemia, accounting for 50%-80% of patients, with NCCAH found in 1%-10% of hyperandrogenic women. Treatment is recommended for symptomatic patients (i.e., pediatric patients with an advanced bone age coupled with a poor height prediction, compared with family target height), hirsutism, severe acne, menstrual irregularities, and in the young adult female-infertility. There is no strong evidence to support that early glucocorticoid treatment of asymptomatic or mildly symptomatic NCCAH is superior to watchful waiting and potential adverse effects of exogenous glucocorticoids. |
| نام فایل | تاریخ درج فایل | اندازه فایل | دانلود |
|---|---|---|---|
| hamayesh.jpg | 1398/04/25 | 748231 | دانلود |
| 2-.pdf | 1398/04/25 | 137024 | دانلود |
