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R.P. RP, 13 days old boy 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 - PowerPoint PPT Presentation
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R.PR.P
RP, 13 days old boyRP, 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.PR.P
History :History :Born to a 29 years old healthy mother,
first birth39 gestational weeks, NSB, BW:3000 gr BL:51 cm.
Breast feeding.
Family history:Family history:Consanguineous marriage
R.PR.P
Physical exam: 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:Lab:
Na: 127 mEq/L K: 6.7 mEq/L
Feeding difficulties, vomitting, letargy,Feeding difficulties, vomitting, letargy,dehydration, hyponatremia, dehydration, hyponatremia, hypokalemiahypokalemia
Sepsis Gastroenteritis Pylor stenosis Cow milk (formula) allergy Lower urinerary system stenosis Salt loosing
Hyponatremai but not hyperkalemia
Just taking breast milk and severe clinical findings
hypokalemia
Hyponatremia and hyperkalemia
R.PR.P
axillary, areolar and scrotal hyperpigmentation macropenis, testes are palpable in scrotum
Physical exam: 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.
Feeding difficulties, vomitting , letargy Shock symptoms (tashicardia, filiform
pulse, low arterial tension) Hyperkalemia, hyponatremia Hyperpigmentation Gender development disorders (girls),
Macropenis (boys)
congenital adrenal hyperplasia salt wasting crisis
Congenital adrenal hyperplasia, salt wasting crisis
Serum samples for 17 Serum samples for 17 hydroxyprogesteronehydroxyprogesterone
IV fluid –electrolyte and IV fluid –electrolyte and hydrocortisone treatment should hydrocortisone treatment should be initiatedbe initiated
Congenital adrenal hyperplasia (CAH)
Deficiency of the enzymes needed for the synthesis of cortisol and aldosterone causes CAH
Ot res
Enzyme deficiencies that cause CAH:– 21 hydroxylase (CYP21A2)– 11 β hydroxylase (CYP11B1)– 3 β hydroxysteroid dehydrogenase– 17 α hydroxylase (CYP17)
““Steroidogenikc acute regulatuary protein Steroidogenikc acute regulatuary protein (StAR)”(StAR)” coding gene defects lead to lipoid adrenal hyperplasia
Congenital adrenal hyperplasia (CAH)
YENİDOĞAN DÖNEMİNDE YENİDOĞAN DÖNEMİNDE KONJENİTAL ADRENAL HİPERPLAZİKONJENİTAL ADRENAL HİPERPLAZİ
Girl with GDA and dehydration findingsBoy with DH
vomitting
Low Na, high K
High 17 OHPHigh renin
N 17 OHP N DHEAS
N 17 OHP high DHEAS
severe 21 hydroxylase def
Renal USGLow urinary system stenosis
3 β HSD def
Hydrocortisone treatGene mutation analysis
Aldosterone unresponsiveness
R.PR.PNa: 127 mEq/L ; K: 6.7 mEq/L
17-OH Progesterone:51 ng/ml (N:0.07-1.53)17-OH Progesterone:51 ng/ml (N:0.07-1.53)Renin: 719 pg/ml (N:5.2-33.4)Renin: 719 pg/ml (N:5.2-33.4)
DHEA-S: 1500 ng/dl (N:700-3000)TA: 70/50 mmHg
Severe 21 hydroxylase deficiencySevere 21 hydroxylase deficiency
Congenital adrenal hyperplasia
salt wasting crisisTreatment Treatment IV fluid therapyIV fluid therapy
20 cc/kg IV serum saline20 cc/kg IV serum salineMaintanence + deficitsMaintanence + deficits 5% dex with serum 5% dex with serum
salinesaline
IV hydrocortisone IV hydrocortisone Hydrocortisone 100-75mg/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 crisisTreatment Treatment Hydrocortisone 10-15 mg/m2/dayFludrokortisone 0.1-0.2mg/daySalt 1-2 gr/day