123 LATE ONSET 21-OH-DEFICIENCY (21-OHD) CAN BE MISDIAGNOSED AS “TYPICAL PREMATURE PUBARCHE” (PP) IN CHILDHOOD

Abstract

The isolated and early growth of pubic hair (PH) is often associated with slight advance in bone age (BA) and statural age (SA). Diagnosis of PP is classically made on high levels of dehydroepiandrosterone sulfate (DS). In this context, measuring only DS can be misleading, as we observed in 5 girls. The first 3 were seen at 5.5 yr for PP with normal SA ; their basal levels of DS (μg/dl) were indeed very high for age (135, 40 and 73 respectively). The last 2 girls were seen at 6-8 yr for early onset of PH (5-7 yr) and tall stature ; DS levels (63-94 and 86-158) were also very high. BA was advanced but not so drastically when reported to SA, except in girl n° 3. 21-OHD, suspected only in girl n° 5, was recognized in all girls on the systematic or retrospective (n° 1) measurement of 17-OH-progesterone (OHP) levels (ng/dl) which were variably elevated between girls (287 to 5372), but even more variable between days in each of them (ex: 87 to 2731 in n° 4). In girls n° 1, 3 and 4, OHP as well as DS were normally suppressed with Dexamethasone. Girl n° 1, misdiagnosed as PP until 16 yr, had normal menses from 12.7 yr onwards, still had high DS (362) and OHP (1246) levels at 18 yr but refused Rx. In girls n° 4 and 5, now treated for 2-3 yr, DS returned slowly to normal for age. In both girls, HLA-typing revealed the B14 antigen. In conclusion: 1) DS levels are high from a very young age in children with late onset or partial 21-OHD, in contrast to what observed in CAH newborns (Ped. Res., 1982, 16, 10); 2) Because 21-OHD can mimic the clinical and biological symptoms of “classical” PP, OHP should be measured systematically in children with PP.