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