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PRESENTATION BY : DR MAHESH YADAV
REFERENCE ( THE NEW ENGLAND JOURNAL
OFMEDICINE
21- HYDROXYLASE DEFECIENCY (>90%)
• Classical – Salt Wasting
Simple Virilizing
• Non Classical
OTHERS
• 11 hydroxylase def...
DISORDER GENE AFFECTED
AND
CHOROMOSOME
SIGN AND SYMP. THERAPEUTIC
MEASURES
21 Hydroxylase
Deficiency ,classic
form
CYP21
6...
DISORDER AFFECTED
GENE AND
CHROMOSOME
SIGN AND SYMPTOMS THERAPEUTIC MEASURES
3beta-
hydroxysteroid
dehydrogenase
deficienc...
DISORDER AFFECTED GENE
AND CHROSOME
SIGN AND SYMPTOMS THERAPEUTIC
MEASURES
Congenital
lipoid
adrenal
hyperplasi
a
STAR
8p1...
 CLASSIC 21- HYDROXYLASE DEFICIENCY
 GLUCOCORTICOIDS
 ( For children) Dose = Hydrocortisone 10 – 20 mg/m
sq./day in thr...
 Look for signs of Iatrogenic Cushing’s Syndrome
 rapid weight gain
 Hypertension
 pigmented striae
 osteopenia .
 M...
 MINERALOCORTICOIDS
 Supplemental mineralocorticoid
 (0.1 – 0.2 mg of fludrocortisone daily )
 sodium chloride
 (17 –...
 Monitor Plasma renin activity levels or direct renin
immunoassays .
 Signs of inadequate dose
 Hypotension
 Hyperkale...
 Surgical correction
 Prenatal genetic counselling is advised for all affected
females .
 Maternally administered dexamethasone reduces genit...
 ALGORITHM FOR DECISIONS PERTAINING TO THE
PRENATAL DIADNOSIS AND TREATMENT OF 21
HYDROXYLASE DEFEICIENCY ....
Both parents carrier
Pregnancy test (<6 week of gestation )
Positive
Begin dexamethasone Chronic villus sampling
Fetal sex...
CYP21 GENOTYPE
Affected Unaffected
Continue dexa. Stop dexa.
Confrim diagnosis postnatally long term follow up
DISORDER AFFECTED GENE
AND
CHROMOSOME
SIGNS AND SYMPTOMS LABORATORY FINDINGS THERAPEUTIC
MEASURES
21-
Hydroxylase
deficien...
Treatment of CAH
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Treatment of CAH

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Treatment of CAH

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Treatment of CAH

  1. 1. PRESENTATION BY : DR MAHESH YADAV REFERENCE ( THE NEW ENGLAND JOURNAL OFMEDICINE
  2. 2. 21- HYDROXYLASE DEFECIENCY (>90%) • Classical – Salt Wasting Simple Virilizing • Non Classical OTHERS • 11 hydroxylase deficiency • 17 alpha hydroxylase deficiency • 3 hydroxysteroid dehydrogenase deficiency • Congenital lipoid adrenal hyperplasia • P450 oxidoreductase deficiency
  3. 3. DISORDER GENE AFFECTED AND CHOROMOSOME SIGN AND SYMP. THERAPEUTIC MEASURES 21 Hydroxylase Deficiency ,classic form CYP21 6p21.3 Glucocorticoids deficiency Mineralocorticoid deficiency (salt –wasting crisis) Ambiguous genitalia in females Postnatal virilization in males and females Glucocorticoids replacement Mineralocorticoids +sodium chloride supplements Vaginoplasty and clitoral recession Suppression with glucocorticoids 21-Hydroxylase deficiency ,non classic form CYP21 6p21.3 Asymptomatic ,precocious adrenarche ,hirsutism,acne,menstrual irregularity ,infertility Suppression with glucocorticoids 11beta- hydroxylase deficiency CYP11B1 8q24.3 Glucocorticoids deficiency Ambiguous genitalia in females Postnatal virilization in males and females Hypertension Glucocorticoids replacement Vaginoplasty and clitoral recession Suppression with glucocorticoids Suppression with
  4. 4. DISORDER AFFECTED GENE AND CHROMOSOME SIGN AND SYMPTOMS THERAPEUTIC MEASURES 3beta- hydroxysteroid dehydrogenase deficiency ,classic form HSD3B2 1p13.1 Glucocorticoids deficiency Mineralocorticoid deficiency (salt –wasting crisis) Ambiguous genitalia in females and males Precocious adrenarche ,disordered puberty Glucocorticoids replacement Mineralocorticoids +sodium chloride supplements Surgical correction + sex hormone replacement Suppression with glucocorticoids 17alpha- hydroxylase/17, 20-lyase deficiency CYP17 10q24.3 Cortisol deficiency Ambiguous genitalia in males Sexual infantilism Glucocorticoids administration Orchidopexy or removal of intraabdominal testes ,sex hormone replacment Sex homone replacement Suppression with
  5. 5. DISORDER AFFECTED GENE AND CHROSOME SIGN AND SYMPTOMS THERAPEUTIC MEASURES Congenital lipoid adrenal hyperplasi a STAR 8p11.2 Glucocorticoids deficiency Mineralocorticoid deficiency (salt –wasting crisis) Ambiguous genitalia in males Poor pubertal development or premature ovarian failure in females Glucocorticoids replacement Mineralocorticoids +sodium chloride supplements Orchidopexy or removal of intraabdominal testes,sex hormone replacement Estrogen replacement P450 oxidoredu ctase deficiency POR 7q11.3 Glucocorticoids deficiency Ambiguous genitalia in males and females Maternal virilization ANTLEY BIXLER SYNDROME Glucocorticoids replacement Surgical correction of genitals and sex hormone replacement
  6. 6.  CLASSIC 21- HYDROXYLASE DEFICIENCY  GLUCOCORTICOIDS  ( For children) Dose = Hydrocortisone 10 – 20 mg/m sq./day in three divided dose .  For adults Prednisolone 5-7.5 mg daily in two divided dose .
  7. 7.  Look for signs of Iatrogenic Cushing’s Syndrome  rapid weight gain  Hypertension  pigmented striae  osteopenia .  Male with testicular adrenal rests requires higher doses of dexamethasone to suppress corticotrophin .  Treatment is not indicated in asymptomatic children non classic 21-hydroxylase deficiency .
  8. 8.  MINERALOCORTICOIDS  Supplemental mineralocorticoid  (0.1 – 0.2 mg of fludrocortisone daily )  sodium chloride  (17 – 34 mmol od sodium chloride daily in addition to glucocorticoids treatment ).  Breast milk or infant formulas ( sodium contents 8mmol per litre ) is insufficient to compensate sodium losses .
  9. 9.  Monitor Plasma renin activity levels or direct renin immunoassays .  Signs of inadequate dose  Hypotension  Hyperkalemia  elevated renin levels  Signs of overdose  Hypertension  Edema  Tachycardia  suppresses plasma renin activity .  Adjustment dose is 0.05 – 0.1 mg .
  10. 10.  Surgical correction
  11. 11.  Prenatal genetic counselling is advised for all affected females .  Maternally administered dexamethasone reduces genital ambiguity in affected females foetuses .  Dose =20ug per kg /day .  Long term safety of prenatal treatment remains uncertain.  No congenital malformations have been attributable to such therapy
  12. 12.  ALGORITHM FOR DECISIONS PERTAINING TO THE PRENATAL DIADNOSIS AND TREATMENT OF 21 HYDROXYLASE DEFEICIENCY ....
  13. 13. Both parents carrier Pregnancy test (<6 week of gestation ) Positive Begin dexamethasone Chronic villus sampling Fetal sex Male-stop Dexa. Female long term follow up
  14. 14. CYP21 GENOTYPE Affected Unaffected Continue dexa. Stop dexa. Confrim diagnosis postnatally long term follow up
  15. 15. DISORDER AFFECTED GENE AND CHROMOSOME SIGNS AND SYMPTOMS LABORATORY FINDINGS THERAPEUTIC MEASURES 21- Hydroxylase deficiency, classic form CYP21 6p21.3 Glucocorticoid deficiency ↓ Cortisol ↑ACTH ↑↑ Baseline and ACTH stimulated 17- hydroxyprogesterone Glucocorticoid (hydrocortisone) replacement Mineralocorticoid deficiency (salt-wasting crisis) Hyponatremia Hyperkalaemia ↑ Plasma renin Mineralocorticoid (fludrocortisone) Replacement sodium chloride supplementation Ambiguous genitalia in females ↑ Serum androgens Vaginoplasty and clitoral recession Postnatal virilisation in males and females ↑ Serum androgens Suppression with glucocorticoids 21- Hydroxylase Deficiency nonclassic form CYP21 6p21.3 May be asymptomatic precocious adrenarche hirsutism acne menstrual Irregularity infertility ↑ Baseline and ACTH-stimulated 17 hydroxyprogesterone ↑ Serum androgens Suppression with glucocorticoids

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