We present 3 cases of congenital hyperplasia. Case lis a 5 year and 9 month old who is suffered from excessive salt craving and symptoms of precocious puberty. Case llis a 2 month old boy who has failure to thrive and frequent episode of dehydration. Case lll is a 5 year and 3 month old girl who has enlarged clitoris without salt craving since birth. All 3 cases have higher level of 17KS than normal but normal blood pressure. Serum 17 OH progesterone or urinary pregnanetriol were not checked. All patients were well responding with corticosteroid and 17 KS in 24 hour urine were decreased to normal. These patients are considered to have 21 hydroxylation defect type in congenital adrenal hyperplasia. Review of literature and references on congenital adrenal hyperplasia was attempted priefly.
Adrenal Hyperplasia, Congenital* ; Blood Pressure ; Clitoris ; Dehydration ; Failure to Thrive ; Female ; Humans ; Hydroxylation ; Hyperplasia ; Infant ; Male ; Parturition ; Pregnanetriol ; Progesterone ; Puberty, Precocious

AIMTo establish a method to determine the isotope ratios of 13C to 12C of dehydroepiandrosterone and its metabolites in urine, for detecting the source of dehydroepiandrosterone or its metabolites.

METHODSPreliminary separation of endogenous anabolic androgenic steroids could be achieved using solid phase extraction, enzymolysis and thin layer chromatography. The source of dehydroepiandrosterone and other endogenous anabolic androgenic steroids could be detected by their delta values with gas chromat ography-combustion-isotope ratio mass spectrometry.

RESULTSThe 5 values of some metabolites of dehydroepiandrosterone reduced after the administration of dehydroepiandrosterone preparation. In these cases the data indicated that exogenous anabolic androgenic steroids were administrated.

CONCLUSIONThe source of dehydroepiandrosterone or its metabolites in urine could be detected by measuring their delta values with this method.

Adult ; Androstane-3,17-diol ; urine ; Androsterone ; urine ; Chromatography, Thin Layer ; methods ; Dehydroepiandrosterone ; metabolism ; Doping in Sports ; Etiocholanolone ; urine ; Female ; Gas Chromatography-Mass Spectrometry ; methods ; Humans ; Male ; Pregnanetriol ; urine ; Substance Abuse Detection ; methods