congenital adrenal hyperplasia
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Slide 1 :
Congenital Adrenal Hyperplasia Tania Warnakulasuriya
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Overview Hypothalamic-pituitary-adrenal axis Steroid biosynthetic pathway 21 – hydroxylase deficiency Other enzyme deficiencies causing CAH
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Major Steroid Biosynthetic Pathway Cholesterol Pregnenolone Progesterone Deoxycorticosterone Corticosterone Aldosterone Mineralocorticoids 17-Hydroxypregnenolone 17-Hydroxyprogesterone 11-Deoxycortisol Cortisol Glucocorticoids DHEA Androstenedione Testosterone Eastrone Eastradiol
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Congenital Adrenal Hyperplasia contd. Cortisol ACTH Adrenal hyperplasia Autosomal recessive 90% 21-hydroxylase deficiency (6p21.3) 5% 11ß-hydroxylase deficiency (8q24) <2% 3ß-hydroxydehydrogenase (1p13.1) <1% 17-hydroxylase deficiency (10q24.3)
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21-hydroxylase deficiency Congenital Adrenal Hyperplasia contd.
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21-hydroxylase Deficiency contd. Classical disease 1:15000 – 20000 Decreased Glucocorticoid levels (+ Mineralocorticoid levels) Excessive androgens Salt wasting – Both Cortisol and Aldosterone deficiency Simple virilizing – Aldosterone in adequate amounts Non classical disease 1:1000 Mild increase in androgens only
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Salt wasting ( Aldosterone) Neonatal period Progressive loss of weight Vomiting Dehydration Hypotension Shock 6. Hyponatremia Hyperkalemia Hypoglycemia Arrhythmias Classical disease
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Virilization ( Testosterone) Prenatally – Abnormal genital development in females Enlarged clitoris Partial or complete labial fusion Urogenital sinus Sexual dimorphic behaviour Internal genital organs are normal
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Enlarged clitoris with labial fusion in a female
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Virilization cont. After birth: Rapid somatic growth Accelerated skeletal maturation Increased muscle mass Pubic and axillary hair growth Acne Deep voice Enlarged penis & scrotum Enlarged prostate
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Non classical Many are asymptomatic Precautious puberty Hirsutism Menstrual disorders Infertility
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Diagnosis Elevated 17-hydroxyprogesterone Increased urinary pregnanetriol Prenatally – Chorionic villi sampling Amniocentesis Other Investigations Increased Testosterone levels in females USS – Uterus and gonads BU/SE FBS ABG – metabolic acidosis
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Treatment 1. Glucocorticoids – Hydrocortisone Dose is increased in infection or surgery Maintain linear growth along percentile lines Monitor 17 – hydroxyprogesteron levels 2. Mineralocorticoids – Fludrocortisone Salt loosing disease NaCl may be needed in infants 3. Antiandrogens with aromatase inhibitors 4. Surgery Reduction of clitoral size, Vaginoplasty , correcting urogenital sinus Adrenalectomy in adults/adolescents with poor control.
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Congenital Adrenal Hyperplasia contd.
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Congenital Adrenal Hyperplasia
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SUMMARY Congenital adrenal hyperplasia is an autosomal recessive condition 90% of congenital adrenal hyperplasia is due to 21-hydroxylase deficiency. The clinical presentation differ according to the enzyme that is deficient and the level of enzymatic activity. Treatment mainly consist of replacing the hormones that are deficient.
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