Probleme der verspäteten Diagnose eines unkomplizierten adrenogenitalen Syndroms (AGS) mit 21-Hydroxylase-Defekt am Beispiel eines 7jährigen Jungen

HISTORY AND CLINICAL FINDINGS: A 7.3-year-old boy was presented at out-patient clinic because of tallness and premature puberty. His height was 150.2cm (+ 4.74 standard deviation score for chronological age), body mass index 18.4 kg/m2, pubic hair stage 3 (after Tanner), testicular volume of 5.0 ml each. Bone age was accelerated by 6.5 years (SD -1.55 for height according to bone age). Expected final height was 166 cm, mean genetic target height 180 cm. INVESTIGATIONS: Basal serum concentration of 17-hydroxyprogesterone was 142.1 ng/ml (normal: < 1.9) and testosterone of 93 ng/dl (normal: < 11). 24-hour urine showed an increased excretion of pregnantriol of 8280 micrograms/d (normal < 500). Gonadotropine-releasing hormone test (GnRH), blood collected at 0 and 30 min, showed an increased rise of the serum LH concentration of 0.6 to 8.2 mU/ml (normal < 0.3 and < 3.6, respectively) and a normal FSH increase of 1.3 to 3.2 mU/ml (normal < 1.3 and < 4.0, respectively). The diagnosis of adrenogenital syndrome (AGS) with 21-hydroxylase defect was confirmed by molecular genetic testing. TREATMENT AND COURSE: The boy was treated with hydrocortisone (average dose 18.3 mg/m2 body surface area). Because of the premature puberty and the poor growth endprognosis treatment with the GnRH agonist Decapeptyl Depot, 3.75 mg every 4 weeks i.m., was started. CONCLUSION: The correct diagnosis should have been made in the neonatal period on the basis of the family history (15-year-old brother with AGS) and at the latest on correct interpretation of the clinical signs during early childhood.