نتایج جستجو برای: congenital interrenal hyperplasia
تعداد نتایج: 151041 فیلتر نتایج به سال:
lipoid congenital adrenal hyperplasia (lipoid cah), a rare disorder of steroid biosynthesis, is the most severe form of cah. in this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. in this report, we presented a ...
While treating patients with endometrial hyperplasia, the physician may face both bleeding and thrombotic complications, particularly, during hormonal or surgical treatment, which significantly increases risk of these complications. In addition, complications in gynecological result from congenital acquired thrombophilia, blood flow disorders (blood stasis), vascular wall damage, that is, class...
congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. the clinical presentation depends on the specific enzyme defect. we report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. a 26-year-old female patient referred with hypertension and hypokalemia. she also had primary amenor...
BACKGROUND Lipoid congenital adrenal hyperplasia, is the rarest and usually the most severe form of adrenal steroidogenic defect,which may presents as infantile cholestasis. CASE PRESENTATION Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperp...
Management of conditions associated with intersex, such as congenital adrenal hyperplasia, is controversial. A recent editorial in the BMJ called for long term studies of outcome. Females (genotype XX) with congenital adrenal hyperplasia are born with ambiguous genitalia, have feminising genitoplasty soon after birth, and often have repeated genital surgery and genital examinations in adolescen...
In this study the clinical and epidemiological characteristics of congenital adrenal hyperplasia were evaluated prospectively in 47 patients admitted in Imam Reza Hospital in Mashhad during a 4 year period. 21-hydroxylase deficiency was present in 42 patients (89.3%), the simple virilizing form in 6 and the salt-losing form in 36 of them. 11b hydroxylase deficiency was present in 5 patient...
Steroids are synthesized mainly from the adrenal cortex. Adrenal deficiencies are often associated with problems related to its development, which is not fully understood. To better understand adrenocortical development, we studied zebrafish because of the ease of embryo manipulation. The adrenocortical equivalent in zebrafish is called the interrenal, because it is embedded in the kidney. We f...
BACKGROUND Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of cholesterol to pregnenolone. Affected infants experience salt loss, but glucocorticoid and mineralocorticoid replacement therapy enables long-term survi...
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