[Problems of delayed diagnosis of an uncomplicated adrenogenital syndrome (AGS) with 21-hydroxylase defect in a 7-year-old boy].
METHODS
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.


METHODS
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.


METHODS
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.


CONCLUSIONS
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.
Frenzel
S
S
Klinik mit Poliklinik für Kinder und Jugendliche, Friedrich-Alexander-Universität Erlangen-Nürnberg.
Dörr
H G
HG
D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000188:drug therapy; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D002648:Child; D005640:Follicle Stimulating Hormone / Q000097:blood; D007987:Gonadotropin-Releasing Hormone / Q000819:agonists; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D007986:Luteinizing Hormone / Q000097:blood; D008186:Luteolytic Agents / Q000627:therapeutic use; D008297:Male; D011279:Pregnanetriol / Q000652:urine; D011629:Puberty, Precocious / Q000209:etiology; D013739:Testosterone / Q000097:blood; D013997:Time Factors; D017329:Triptorelin Pamoate / Q000627:therapeutic use
D000893:Anti-Inflammatory Agents; D008186:Luteolytic Agents; D017329:Triptorelin Pamoate; D011279:Pregnanetriol; D007987:Gonadotropin-Releasing Hormone; D013739:Testosterone; D019326:17-alpha-Hydroxyprogesterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D006854:Hydrocortisone