R.P t RP, 13 days old boy Complaint : Complaint : feeding difficulties, vomitting, abdominal distention Complaints began at 10 th days of life, vomitting and feeding difficulties increased since last 3 days

R.P History : Born to a 29 years old healthy mother, first birth 39 gestational weeks, NSB, BW:3000 gr BL:51 cm. Breast feeding. Family history: Consanguineous marriage

R.P Physical exam: weight :3 kg; length:51 cm Lethargic, newborn reflexes are decreased, dry skin and mucosa, filiform pulse, HR:160 /min, TA:60/45 mmHg, abdominal distention.

Lab: Na: 127 mEq/L K: 6.7 mEq/L

Feeding difficulties, vomitting, letargy, dehydration, hyponatremia, hypokalemia t Sepsis t Gastroenteritis t Pylor stenosis t Cow milk (formula) allergy t Lower urinerary system stenosis t Salt loosing Hyponatremai but not hyperkalemia Just taking breast milk and severe clinical findings hypokalemia Hyponatremia and hyperkalemia

R.P axillary, areolar and scrotal hyperpigmentation macropenis, testes are palpable in scrotum Physical exam: weight :3 kg; length:51 cm Lethargic, newborn reflexes are decreased, dry skin and mucosa, filiform pulse, HR:160 /min, TA:60/45 mmHg, abdominal distention.

t Feeding difficulties, vomitting, letargy t Shock symptoms (tashicardia, filiform pulse, low arterial tension) t Hyperkalemia, hyponatremia t Hyperpigmentation t Gender development disorders (girls), Macropenis (boys) congenital adrenal hyperplasia salt wasting crisis

Congenital adrenal hyperplasia, salt wasting crisis Serum samples for 17 hydroxyprogesterone IV fluid –electrolyte and hydrocortisone treatment should be initiated

Congenital adrenal hyperplasia (CAH) t Deficiency of the enzymes needed for the synthesis of cortisol and aldosterone causes CAH t Ot res

t Enzyme deficiencies that cause CAH: –21 hydroxylase (CYP21A2) –11 β hydroxylase (CYP11B1) – 3 β hydroxysteroid dehydrogenase –17 α hydroxylase (CYP17) “Steroidogenikc acute regulatuary protein (StAR)” t “Steroidogenikc acute regulatuary protein (StAR)” coding gene defects lead to lipoid adrenal hyperplasia Congenital adrenal hyperplasia (CAH)

YENİDOĞAN DÖNEMİNDE KONJENİTAL ADRENAL HİPERPLAZİ Girl with GDA and dehydration findings Boy with DH vomitting Low Na, high K High 17 OHP High renin N 17 OHP N DHEAS N 17 OHP high DHEAS severe 21 hydroxylase def Renal USG Low urinary system stenosis 3 β HSD def Hydrocortisone treat Gene mutation analysis Aldosterone unresponsiveness

R.P Na: 127 mEq/L ; K: 6.7 mEq/L 17-OH Progesterone:51 ng/ml (N: ) Renin: 719 pg/ml (N: ) DHEA-S: 1500 ng/dl (N: ) TA: 70/50 mmHg Severe 21 hydroxylase deficiency Congenital adrenal hyperplasia

salt wasting crisis Treatment IV fluid therapy 20 cc/kg IV serum saline Maintanence + deficits  5% dex with serum saline IV hydrocortisone Hydrocortisone mg/m2/day half of it IV bolus –Half of it in 24 hours, added to the fluid –2.day 75mg/m2/day oral –3.day 50mg/m2/day –4.day30 mg/m2/day

Salt wasting crisis Treatment Hydrocortisone mg/m2/day Fludrokortisone mg/day Salt 1-2 gr/day