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Extern Conference

Extern Conference. 17 th May 2007. History. Chief complaint A 6 week-old girl was referred to our hospital with history of severe vomiting for 3 days. History. History of present illness

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Extern Conference

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  1. Extern Conference 17th May 2007

  2. History Chief complaint A 6 week-old girl was referred to our hospital with history of severe vomiting for 3 days

  3. History History of present illness 3 days before admission, she had severe vomiting and lethargy without fever, diarrhea or dysuria. She was admitted to a local hospital. Her investigation: serum electrolyte study revealed Na+ 122 mmol/l, K+ 7.1 mmol/l, Cl- 84 mmol/l, HCO3- 15 mmol/l blood sugar was 126 mg/dl.

  4. History • History of present illness • 24 hours after admission, she developed generalized tonic clonic seizure, and cyanosis but she had no bladder or bowel incontinence during convulsion. • She received initial treatment and was referred to Siriraj hospital.

  5. History • Birth history Antepartum • G2P1A0 • No maternal drug or hormonal usage • No complication of pregnancy Intrapartum • Cesarean section due to previous cesarean section • Term AGA infant, birth weight 3,200 g (P50) • Apgar score 10, 10 at 1, 5 minute • Ambiguous genitalia

  6. History • Family history : • The second child of family • Her sister is healthy. • No consanguinity • No history of ambiguous genitalia, precoccious puberty or neonatal death in her family • Drug History: • No history of drug or food allergy

  7. History • Nutrition: • Breastmilk and formula every 2 hours

  8. Physical examination • Vital signs: • T 37.5° C, pulse 131 bpm regular, BP 99/49 mmHg (P75-P90), RR 48 /min • Weight 3,600 g (P3-P10), Length 53 cm (P10-P25), Head circumference 37 cm (P50) • General appearance: • Lethargy, not pale, no jaundice, no sign of dehydration • Skin: • Mild hyperpigmentation at nipple and genitalia

  9. Physical examination • Head, eye, ear, nose and throat: • AF 2 x 2 cm. PF fingertip, no dysmorphic features • Respiratory system: • Normal breath sound, no adventitious sound • Cardiovascular system: • Normal S1 and S2, no murmur, capillary refill less than 2 seconds • Abdomen: • Soft, not tender, liver and spleen not palpable, no palpable mass

  10. Physical examination • Extremities: • No deformity • Nervous system: • Grossly intact • Genitalia: • Phallus: length 3.3 cm, width 1.2 cm • Fused labioscrotal fold with few rugae and hyperpigmentation, no palpable gonad • Single urethral opening at perineoscrotal region

  11. Problem list: 2 month-old girl with • Ambiguous genitalia without palpable gonad • Severe vomiting and lethargy for 3 days • Failure to thrive • Dehydration • Mild hyperpigmentation at nipples and genitalia • Hyponatremia, hyperkalemia and wide anion gap metabolic acidosis • Mineralocorticoid deficiency

  12. Approach to ambiguous genitalia Ambiguous genitalia Gonad palpable Gonad not palpable* Male pseudohermaphroditism True hermaphroditism Female pseudohermaphroditism

  13. Female pseudohermaphroditism • Definition • The situation where chromosomal and gonadal gender are female but the external genitalia resembling male. • Androgen excess is the key

  14. Differential diagnosis • Congenital adrenal hyperplasia (CAH) • Maternal androgen excess • Aromatase deficiency • Androgenic target hypersensitivity • Multiple congenital malformations • Unknown etiology

  15. Congenital Adrenal Hyperplasia The most common cause of ambiguity in the newborn Autosomal recessive pattern of inheritance (Mutation in chromosome 6p21.3) An enzymatic defect in adrenal steroid biosynthesis 90% of CAH caused by 21-Hydroxylase deficiency A type of primary adrenal insufficiency

  16. The adrenal gland • Adrenal cortex • Zona glomerulosa (15%) aldosterone • Zona fasciculata (75%) cortisol • Zona reticularis (10%) androgen • Adrenal medulla Renin angiotensin aldosterone system and K+ CRH and ACTH CRH and ACTH CRH and ACTH

  17. Steroid biosynthesis

  18. Congenital adrenal hyperplasia • It was classified into 3 forms • Salt wasting 21-hydroxylase deficiency (classic form) about 2/3 of all patients • Virilizing 21-hydroxylase deficiency • Non-classic 21-hydroxylase deficiency

  19. Salt wasting 21-hydroxylase deficiency • Glucocorticoids and mineralocorticoids deficiency • Salt wasting crisis since infancy (7-14 days old) • Failure to thrive, vomiting, hypotension • Cortisol deficiency stimulate the production of ACTH which cause hyperpigmentation • Androgen excess • Female infant: Ambiguous genitalia since birth, which range from fused labioscrotal folds to perineal hypospadia • Male infant: Normal genitalia, usually presented with signs and symptoms of adrenal insufficiency

  20. Mineralocorticoid deficiency Salt craving Malaise Weight loss Hypotension or shock Hyponatremia Hyperkalemia Metabolic acidosis  Plasma renin activity Corticosteroid deficiency Hypoglycemia Hyponatremia Hypotension or shock Malaise Poor appetite Weight loss Nausea, vomiting Abdominal pain Salt wasting 21-hydroxylase deficiency

  21. Salt wasting 21-hydroxylase deficiency Severe clitoral hypertrophy from masculinization of the external genitalia of a 46,XX patient caused by CAH

  22. Virilizing 21-hydroxylase deficiency • Glucocorticoids deficiency but not for mineralocorticoids • No salt wasting crisis • Androgen excess • Female • Pseudohermaphroditism • Male • Precocious puberty

  23. Nonclassic 21-hydroxylase deficiency • Mild degree of hyperandrogenism • Female • PCOD, acne, hirsutism, infertility, irregular menstruation • Male • Precocious puberty, advanced bone age, accerelated growth during childhood

  24. Diagnosis of CAH • Hormonal study • 17-hydroxyprogesterone level is diagnostic • Progesterone level • Testosterone level • Cortisol level (take critical sample before treatment) • 250 mcg ACTH stimulation test in borderline case • Imaging study • Pelvic ultrasonography for gonads and female internal sex organs • Chromosomal study • To confirm gender • DNA Analysis

  25. Diagnosis of CAH

  26. Diagnosis of CAH Result pending • Hormonal study • 17-hydroxyprogesterone level is diagnostic • Progesterone level • Testosterone level • Cortisol level (take critical sample before treatment) • 250 mcg ACTH stimulation test in borderline case • Imaging study • Pelvic ultrasonography for gonads and female internal sex organs • Chromosomal study • To confirm gender in the non-palpable gonad cases • DNA Analysis 61 ng/dl (normal 7-59 ng/dl)* 20 ng/dl(normal < 10 ng/dl)* Pre-pubertal uterus with bilateral ovaries and no visualization of the testes 46, XX Result pending

  27. Treatment of adrenal crisis • Glucocorticoids replacement • Hydrocortisone 100 mg/m2/day • Fluid replacement • NSS 10-20 cc/kg in 30-60 minutes, then • 5%D/NSS to 5%D/N/2 20 cc/kg • Hypoglycemia • 2-3 cc/kg of 25% dextrose iv bolus Hydrocortisone 309 mg/m2/day 5% D/N/5 (MT+7% def)

  28. Treatment of adrenal crisis • Hyponatremia • Deficit therapy: ΔNa x 0.6 x BW • Replacement half of the deficit in 8-12 hours • MT: 2-3 mEq/kg/day • Hyperkalemia • EKG monitoring • if K+ > 6 mmol/l: kayexalate po. or by enema • if K+ > 7 mmol/l: NaHCO3 1-2 mmol/kg iv • if EKG abnormality: 10% Calcium gluconate 0.5-1 cc/kg iv in 10 minutes

  29. Maintenance treatmentin CAH • Glucocorticoids replacement • To suppress adrenal androgen • Hydrocortisone (Cortef®) (12-18 mg/m2/day1) • Mineralocorticoids replacement • To return normal electrolytes and plasma renin activity • Fludrocortisone (Florinef®) (0.05-0.3 mg/day) • NaCl supplement in infant • 1-3 g/day added to formula or foods • Beware of hypertension 1 Merke D P, Bornstein S R. Lancet 2005; 365: 2125-36

  30. Maintenance treatmentin CAH • Stress dosing • Increase hydrocortisone dosage to 3-5 folds of normal daily dosage • Same fludrocortisone dosage • Undesired effect of treatment • Excessive cortisol replacementin infancy cause short stature in adulthood • Measure weight, length, adrenal steroid level, plasma renin activity and serum electrolytes

  31. Plan: wean Cortef® to 30 mg/m2/d in three days after discharge

  32. Discharge planning • Consult urologist for surgical correction • Counseling the parents • Medical dosage adjustment in case of stress • Signs and symptoms of adrenal crisis • Signs and symptoms of cortisol excess • Puberty, growth and development • Recurrent risk and prenatal diagnosis for the next pregnancy

  33. Take home message • Newborn with ambiguous genitalia should not go home without follow up • CAH is the most common cause of female pseudohermaphroditism • Clinical presentation • Poor feeding, poor weight gain • Inactive, lethargy, vomiting • Salt losing begins in the second week of life • Follow up clinical and serum electrolytes weekly

  34. Take home message • In case of suspected adrenal insufficiency • Early diagnosis and treatment is the most important • Take the critical sample before start treatment • Serum cortisol, glucose, electrolytes • And clotted blood 5 ml centrifuge then store serum at 4˚C for hormonal study

  35. Special thanks to • ผศ. พญ. จีรันดา สันติประภพ • พญ. กานต์สุดา พิเชษสุดา

  36. Thank you for your attention

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