Case 2
A 48 days old male child born of non consanguineous marriage presented with 2 episodes of
vomiting, excessive crying and anuria since 8 hours. He had no refusal of feeds or lethargy.
On examination, there was no evidence of dehydration and systolic blood pressure was 70
mm of Hg. His anthropometry was in the 50 th percentile for age and genitalia were normal.
He passed urine after giving Ringer lactate IV (20 ml/kg). His septic screen was negative. His
The non-salt wasting types present in males with sexual & somatic precocity within 1 st 6
months of life becoming more evident by 4-5 years of age. There may be enlargement of
penis, scrotum and prostrate with appearance of pubic hair and advanced bone age. Females
present with some degree of masculinization at birth and breast development and
menstruation does not occur in untreated cases.
The non-classic form of 21 hydroxylase deficiency presents with normal genitalia at birth in
both males and females with precocious pubarche.
2 divided doses. Patients on breast feeding require extra sodium supplementation till weaning
is established.
Prenatal diagnosis can be availed by DNA analysis and HLA genotyping of chorionic villus
sample or measurement of 17-OH progesterone in amniotic fluid. Prenatal treatment in form
of Dexamethasone by 5 th week of gestation is offered (20-25 mcg/kg maternal weight in 2-3
divided dose) followed by chorionic villus sampling to determine sex & genotype of fetus.
Dexamethasone is continued if the fetus is female. This helps to prevent the virilization.