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Congenital adrenal hyperplasia

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Congenital adrenal hyperplasia

  1. 1. Congenital Adrenal Hyperplasia<br />Presented by: Ahmad FazwanJunaidi<br />
  2. 2. Adrenal Gland<br />
  3. 3. Adrenal Cortex Hormone Synthesis <br />There is enzyme deficiency<br />In CAH???<br />
  4. 4. What is Congenital Adrenal Hyperplasia (CAH)? <br />Congenital Adrenal Hyperplasia (CAH) is a family of inherited disorders affecting the adrenal glands.<br />Autosomal recessive (mutation of chromosome 6 21-hydroxylase enzyme impairment)<br />Commoner in consanguineous marriage<br />
  5. 5.
  6. 6. Types of CAH<br />1. 21-hydroxylase deficiency (>90%) <br /><ul><li>Classical - salt wasting(75%; 1 in 15,000) </li></ul> - simple virilizing (25%; 1 in 60,000)<br /><ul><li>Nonclassic (1 in 1,000) </li></ul>Others :<br /><ul><li>11Ᏸ-hydroxylase deficiency(3-5 %, 1 in 100,000)
  7. 7. 17α-hydroxylase deficiency / C 17 lyase deficiency (1%)
  8. 8. 3 Ᏸ-hydroxysteroiddehydrogenase deficiency(1%)</li></li></ul><li>CAH due to 21-OH deficiency<br />Pediatrics Endocrinology, Mechanisms, Manifestations and Management, Ora H. Pescovitz, Erica A. Eugster, 2004 by Lippincott Williams & Wilkins.<br />
  9. 9.
  10. 10. Clinical Manifestation<br />Cortisol deficiency – hypoglycemia, inability to withstand stress, vasomotor collapse, hyperpigmentation, apneic spells, muscle weakness & fatigue.<br />Aldosterone deficiency – hyponatremia, hyperkalemia, vomiting, urinary sodium wasting, salt craving, acidosis, failure to thrive, volume depletion, hypotension, dehydration, shock, diarrhea.<br />Androgen excess – ambiguous genitalia, virilization of external genitalia , hirsutism, early appearance of pubic hair, penile enlargement , excessive height gain and skeletal advance.<br /> *Late onset CAH – normal genitalia, have acne, hirsutism, irregular menses/amenorrhea.<br />
  11. 11. Investigation<br />Karyotyping (determine sex chromosome)<br />Abdominal Ultrasound – to detect presence of uterus, cervix and vagina.<br />Serum 17-hydroxyprogesterone<br />
  12. 12. Diagnosis<br />Biochemical diagnostic studies:<br /> - elevated serum 17-OHP (0.25mg IV bolus of ACTH after 60min)<br />100,000<br />10,000<br />ACTH stimulated<br />1,000<br />100<br />0<br />10,000<br />100<br />1,000<br />100,000<br />Basal 17-OHP, ng/dL<br />
  13. 13. Management<br />Glucocorticoids (oral hydrocortisone etc.) 13-18 mg/m²/24hr in 3 divided doses.<br /> Monitoring: serum concentration of adrenal precursors (17-OHP) & linear growth and skeletal age assessment.<br /> *During stressful state ie febrile ilnesses or surgery, 3x higher dose.<br /> *In severe emergency: intramuscular SC glucocorticoid (Solu-Cortef)<br />Mineralocorticoid therapy (fludrocortisone) at a dose of 0.1-0.2 mg/24hr + sodium chloride supplement 1-2g daily.<br /> Monitoring: serum sodium & potassium, plasma renin activity levels.<br />Surgical correction of ambiguous genitalia by 1-2 y/o  normal development of gender identity.<br />
  14. 14. CYP21 genotyping can be performed in a family with history of CAH.<br />Treatment with dexamethasone to suppress fetal ACTH-induced androgen production can reduce/eliminate ambiguity of external genitalia in affected female fetuses.<br />
  15. 15. Complications<br />Females – suboptimal breast enlargement, late menarche, amenorrhea, irregular menses, *reduced insulin sensitivity, PCOS<br />Males – oligospermia, testicular tumor<br />
  16. 16. Adrenal Crisis<br />important to recognize because of its potentially life-threatening implications<br />when the adrenal is prevented from producing normal amounts of its vital hormones<br />Symptoms and signs of adrenal crisis are varied and nonspecific.<br />In infancy these include lethargy, vomiting, poor appetite and failure to thrive.<br />In older children chronic fatigue, headache, gastrointestinal symptoms, salt-craving and excess skin pigmentation may be noted.<br />the underlying problems include low blood sugar, low blood sodium, dehydration, low blood pressure, all predisposing the individual to heart failure and shock (collapse).<br />
  17. 17. References<br />Nelson Essentials of Paediatrics, 5th ed, 2006, Elsevier Inc.<br />Illustrated Textbook of Paediatrics, 3rded, Tom Lissauer, Graham Clayden, 2007,Elsevier Limited.<br />Pediatrics Endocrinology, Mechanisms, Manifestations and Management, Ora H. Pescovitz, Erica A. Eugster, 2004 by Lippincott Williams & Wilkins.<br />http://www.caresfoundation.org/<br />http://www.aafp.org/<br />

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