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CAH, NCAH 11β-hydroxylase deficiency

CAH, NCAH 11β-hydroxylase deficiency. 2009.11.04 내분비대사내과 신지혜. What is CAH?. Congenital adrenal hyperplasia, Adrenogenital syndrome Familial disorder of adrenal steroid biosynthesis with autosomal recessive mode of inheritance. The defect is expressed as adrenal enzyme deficiency.

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CAH, NCAH 11β-hydroxylase deficiency

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  1. CAH, NCAH 11β-hydroxylase deficiency 2009.11.04 내분비대사내과신지혜

  2. What is CAH? • Congenital adrenal hyperplasia, Adrenogenital syndrome • Familial disorder of adrenal steroid biosynthesis with autosomal recessive mode of inheritance. • The defect is expressed as adrenal enzyme deficiency. • Prevalence - Classic form CAH 1: 10,000 –1:15,000 live birth

  3. Mineralocorticoid Glucocorticoid Testosterone

  4. Enzyme deficiency • reduction in end-products • accumulation of • hormone precursors • & ACTH production

  5. Clinical feature • Female : Virilization, female pseudohermaphroditism - Clitoris hypertrophy, fused labia, urogenital sinus, hirsuitism, amenorrhea - Infertility : 일찍 (10주 이전) 치료하면 예방가능 • Male : Normal male phenotype, fertility (+) - 생식기의 성숙, 이차성징의 발현이 빠름 - Early growth spurt ( androgen): 초등학교 때 친구들보다 키가 큼  성인에선 키 작다 ( premature closure of epiphyseal plate)

  6. 11-β-hydroxylase(CYP11B1) deficiency • Hypertensive variant of CAH • 2nd m/c cause of CAH (5-10%) • Gene is located on the long arm of chromosome 8

  7. Diagnosis • Blood : 전구물질의 증가, alternativepathway products 증가 Serum 11-deoxycortisol & 11-deoxycorticosterone • Late-onset (nonclassic) variants: mild, late-onset forms (adolescents, adult) : 11-deoxycortisol may be normal ACTH stimulation test : elevated post-stimulation values • Urine : 17-KS (ketosteroid) ,tetra hydrometabolites, adrenal androgens (including dehydroepiandrosterone [DHEA], dehydroepiandrosterone sulfate [DHEA-S], and androstenedione) • DNA analysis : single His R448H mutation is prevalent.

  8. Diagnosis • Strongmineralocorticoid activity of deoxycorticosterone  Salt retention Hypertension & plasma volume expansion Hypokalemic alkalosis Plasma renin activity Aldosterone • Imaging Pelvic or testicular ultrasonography Testicular adrenal rest tumors (ectopic adrenal tissue) in males. Abdominal computed tomography (CT) scanning

  9. Treatment • Glucocorticoid replacement Lowest glucocorticoid dose -> supress adrenal androgens & maintain normal growth and weight gain  Monitor patients for Inadequate (virilization) & Excess (cushingoid features) steroid treatment • Prednisone (5-7.5mg bid) • If the response to hydrocortisone is poor,  Dexamethasone may be used in adults : multiple daily dosing (ideally 0.25-5mg q4-6h) • Antihypertensive therapy : K-sparing diuretics (spironolactone, amiloride) with or without CCB (nifedipine)

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