21-Hydroxylase Deficiency

فهرست عناوین اصلی در این پاورپوینت

فهرست عناوین اصلی در این پاورپوینت

● Congenital Adrenal Hyperplasia
● What is CAH?
● CAH
● 21-Hydroxylase Deficiency
● 21-Hydroxylase deficiency/2
● 21-Hydroxylase deficiency/3
● 21-Hydroxylase Deficiency/4
● 21-Hydroxylase Deficiency/5
● 11-b-Hydroxylase Deficiency
● 17-a-Hydroxylase deficiency
● 3-b-hydroxysteroid dehydrogenase deficiency
● Pathophysiology
● Enzyme pathway
● ESSENTAILS OF DIAGNOSIS
● ESSENTAILS OF DIAGNOSIS/2
● ESSENTIALS OF DIAGNOSIS/3
● CLINICAL COURSE
● CLINICAL COURSE/2
● GIRLS WITH CAH
● BOYS WITH CAH
● Laboratory Findings
● Laboratory Findings/2
● Laboratory Findings/3
● Other Tests
● Imaging studies
● TREATMENT PRINCIPLES
● MODES OF TREATMENT
● Acute Medical Management
● Long Term Therapy
● Long Term Therapy/2
● New Trends of treatment
● Surgical Management
● Further Outpatient Care
● Patient Education
● Neonatal Screening
● Prenatal diagnosis
● Prenatal Treatment
● PROGNOSIS
● PROGNOSIS /2

نوع زبان: انگلیسی حجم: 0.23 مگا بایت
نوع فایل: اسلاید پاورپوینت تعداد اسلایدها: 42 صفحه
سطح مطلب: نامشخص پسوند فایل: ppt
گروه موضوعی: زمان استخراج مطلب: 2019/06/15 11:54:51

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عبارات مهم استفاده شده در این مطلب

عبارات مهم استفاده شده در این مطلب

., deficiency, hydroxylase, ۱۷, ۱۱, ۲۱, salt, enzyme, aldosterone, androgen, genitalium, b,

توجه: این مطلب در تاریخ 2019/06/15 11:54:51 به صورت خودکار از فضای وب آشکار توسط موتور جستجوی پاورپوینت جمع آوری شده است و در صورت اعلام عدم رضایت تهیه کننده ی آن، طبق قوانین سایت از روی وب گاه حذف خواهد شد. این مطلب از وب سایت زیر استخراج شده است و مسئولیت انتشار آن با منبع اصلی است.

http://www.pitt.edu/~super7/19011-20001/19971.ppt

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عبارات پرتکرار و مهم در این اسلاید عبارتند از: ., deficiency, hydroxylase, ۱۷, ۱۱, ۲۱, salt, enzyme, aldosterone, androgen, genitalium, b,

مشاهده محتوای متنیِ این اسلاید ppt

مشاهده محتوای متنیِ این اسلاید ppt

congenital adrenal hyperplasia dr. abdelaziz elamin. md phd frcpch professor of child health sultan qaboos university muscat oman what is cah it is a familial disorder of adrenal steroid biosynthesis with autosomal recessive mode of inheritance. the defect is expressed as adrenal enzyme deficiency. ۵ major enzymes deficiency are clinically important ۲۱ hydroxylase ۱۱ b hydroxylase ۱۷ a hydroxylase ۳ b hsteroid hydrogenese ۲ ۲۲ desmolase deficiency cah the enzyme deficiency causes reduction in end products accumulation of hormone precursors increased acth production. the clinical picture reflects the effects of inadequate production of cortisol aldosterone and the increased production of androgens steroid metabolites. ۲۱ hydroxylase deficiency most common type accounts for ۸ of cases. incidence is ۱ ۵ to ۱ ۱۵ live birth. gene is located on the short arm of chromosome ۶ near the c۴ locus in close association with hla genes. heterozygous carriers can be detected by acth stimulation test. ۲۱ hydroxylase deficiency ۲ it is characterized by reduced production of cortisol and aldosterone and increased production of progesterone ۱۷ oh progesterone and sex steroids. the urinary steroid metabolites ۱۷ ketosteroids and pregnanetriol are elevated above normal levels. ۲۱ hydroxylase deficiency ۳ decreased secretion of aldosterone results in salt loss with hyponatremia and hyperkalemia plasma renin activity is therefore elevated. in partial enzyme deficiencies the aldosterone deficiency is not expressed and patients remain normonatremic and normokalemic. the excess androgens causes virilization of girls ambiguous genitalia dark scrotum in boys. ۲۱ hydroxylase deficiency ۴ ۲ forms classic early virilization type with or without salt losing crisis and non classic type with late onset virilization. male babies with non salt losing non classic type remains asymptomatic till late childhood when they may show signs of sexual precocity. ۲۱ hydroxylase deficiency ۵ because members of the same family may have classic non classic asymptomatic forms the disorder may be due to allelic variations of the same enzyme. mass neonatal screening using filter paper blood sample for ۱۷ oh progesterone is used in the usa. ۱۱ b hydroxylase deficiency accounts for ۵ ۱ of cases of cah. gene is located on the long arm of chromosome ۸. it is characterized by low plasma renin activity elevation of serum ۱۱ deoxycortisol and ۱۱ deoxycorticosterone. because of the strong mineralocorticoid activity of deoxycorticosterone the condition is characterized by salt retention hypertension hypokalemic alkalosis. the elevated plasma androgens may cause virilization of the female fetus. ۱۷ a hydroxylase deficiency genetic defect is on chromosome ۱ . presents with similar features of those of ۱۱ hydroxylase deficiency except that androgens are low so no virilization in girls genitalia is ambiguous in boys. ۳ b hydroxysteroid dehydrogenase deficiency this is a very rare disorder that results in accumulation of dhea which is converted to testosterone in peripheral tissues. it can cause virilization of female fetus and leads to ambiguous genitalia in the newborn. pathophysiology anatomically the adrenal gland can be divided into ۳ zones zona glomerulosa which produces predominately mineralocorticoid zona fasciculata which produces predominately glucocorticoid zona reticularis which produces predominately androgens enzyme pathway essentails of diagnosis increased linear growth with advanced bone age and eventual short stature pseudohermaphorditism in girls due to androgen virilizing effect isosexual precocity in boys with small infantile testes. essentails of diagnosis ۲ adrenal crisis with salt loss metabolic acidosis or hypertension hypokalemic alkalosis. low cortisol with high androgens acth and steroid precursors e.g. ۱۷ oh progest. or ۱۱ deoxycortisol. essentials of diagnosis ۳ diagnosis is confirmed by measurement of acth cortisol aldosterone ۱۷ oh progesterone testosterone urinary ۱۷ ketosteroids. needs alertness for the possibility in all babies with diarrhea vomiting hypoglycemia or  bp. clinical course the clinical phenotype depends upon the nature and severity of the enzyme deficiency. approximately ۵ of patients with classic congenital adrenal hyperplasia due to ۲۱ hydroxylase cyp۲۱ deficiency have salt wasting due to inadequate aldosterone synthesis. girls are usually recognized at birth because of ambiguous genitalia. clinical course ۲ non salt losing cah present late in childhood with precocious pubic hair and or clitoromegaly often accompanied by accelerated growth and advanced bone age. those individuals with mild deficiencies of the enzyme present in adolescence or adulthood with varying virilizing symptoms ranging from oligomenorrhea to hirsutism and infertility. girls with cah have ambiguous genitalia at birth complete fusion of the labioscrotal folds and a phallic urethra. clitoromegaly and partial fusion of the labioscrotal folds in less severe forms genitalia is normal at birth. precocious pubic hair clitoromegaly and excess facial or body hair appear later in childhood often accompanied by tall stature. boys with cah are unrecognized at birth because their genitalia are normal. they are not diagnosed until later often with a salt wasting crisis resulting in dehydration hypotension hyponatremia and hyperkalemia or later in childhood with early pubic hair phallic enlargement accompanied by accelerated linear growth and advancement of skeletal maturation. high blood pressure hypokalemia may occur in those with ۱۱ b hydroxylase deficiency and ۱۷ a hydroxylase deficiency due to the accumulation of the mineralocorticoid desoxycorticosterone laboratory findings demonstration of inadequate production of cortisol and or aldosterone in the presence of accumulation of excess concentrations of precursor hormones is diagnostic. in ۲۱ hydroxylase deficiency very high serum ۱۷ hydroxyprogesterone is characteristic together with very high urinary pregnanetriol metabolite of ۱۷ hydroxyprogesterone . laboratory findings ۲ ۱۱ b hydroxylase deficiency is characterized by high serum ۱۱ deoxycorticosterone and ۱۱ deoxycortisol concentrations with elevation of its urinary metabolites tetrahydrocompound s . both are accompanied by elevated ۲۴ hour urinary ۱۷ ketosteroids the …

کلمات کلیدی پرکاربرد در این اسلاید پاورپوینت: ., deficiency, hydroxylase, ۱۷, ۱۱, ۲۱, salt, enzyme, aldosterone, androgen, genitalium, b,

این فایل پاورپوینت شامل 42 اسلاید و به زبان انگلیسی و حجم آن 0.23 مگا بایت است. نوع قالب فایل ppt بوده که با این لینک قابل دانلود است. این مطلب برگرفته از سایت زیر است و مسئولیت انتشار آن با منبع اصلی می باشد که در تاریخ 2019/06/15 11:54:51 استخراج شده است.

http://www.pitt.edu/~super7/19011-20001/19971.ppt

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