J Korean Pediatr Soc.  1978 Sep;21(9):614-621.

Two cases of salt losing form of congenital adrenal hyperplasia

• Park KC
• Chun HJ
• Shin MJ
• Kang SC

Abstract

We experienced 2 case of losing form of congenital adrenal hyperplasia which were regarded to be sucessfully controlled with hormonal replacement, DOCA and hydrocortisone. Case 1 was a 40 days-old male infant who had hyperpigmented phallus, scrotal rugae and nipples but whose phallus seemed to be normal in size and shape. He was admitted at the age of 40 days because of diarrhea, when he revealed in severely dehydrated stated with hyponatrema but responded well to fluid replacement over 2 days. On second admission, he was presented in lethargic state with severe dehydration because of vomiting and diarrhea for 9 days, Which was impressed chlincally as pyloric stenosis. Serum electrolytes revealed hyponatremai an dhyperkalemia. Urinary 17-KS level was increased up to 7.5mg/24 hrs urine. Five days after the replacement of DOCA and hydrocortisone, urinary 17-KS level was markedly diminished to 0.4mg/24hrs and serum electroytes because normal in range. Family history revealed his elder brother(male) expired at the age of one month because of severe diarrhea and dehydration, but had normal external genitalia. Case 2 was a 2 months old male infant whose phallus was unusually large for his age up to 4 cm in length, whose genitalia as well as his nipples were also hyperpigmented. This case was brought to Emergency Room in moderately dehydrated state because of diarrhea and vomiting. The family history of 2 siblings who were expired at 20 days and 2 months of age respectively hand malformed ambiguous genitalia with downward urethral openings and regarded as male at birth. Serum sodium was 104 mEq/L and serum potassium was 6. 2mEq/L. Urinary 17-KS was 8.4 mg/24hrs urine. During the correction of fluid and electrolytes as well as hormonal replacement with DOCA and hydrocortisone, Case I had adrenal crisis which was precipitated while withholding the hormonal replacement because of phlebitis complcated with sepsis. This crisis was well corrected with the emergency replacement with Soluco tef, fluid and electroly in 2 days. Both cases were maintained in good general condition for 1-2 months with DOCA, and hydrocortisone replacement therapy.

MeSH Terms

Adrenal Hyperplasia, Congenital*
Dehydration
Desoxycorticosterone Acetate
Diarrhea
Disorders of Sex Development
Electrolytes
Emergencies
Emergency Service, Hospital
Genitalia
Hand
Humans
Hydrocortisone
Infant
Male
Nipples
Parturition
Phlebitis
Potassium
Pyloric Stenosis
Sepsis
Siblings
Sodium
Vomiting
Electrolytes
Hydrocortisone
Potassium
Sodium