Heinrich U E, Bettendorf M, Vecsei P
Children's Hospital, Heidelberg, Germany.
J Steroid Biochem Mol Biol. 1993 Apr;45(1-3):83-5. doi: 10.1016/0960-0760(93)90126-h.
We observed a boy with ambiguous genitalia and normal testes. Steroid analyses performed during newborn age surprisingly were inconclusive basally and after hCG stimulation, but showed an insufficient testosterone response. Possibly during the early postnatal period the 3 beta-HSD activity in peripheral tissues may have been sufficient to substitute for the deficient 3 beta-HSD activity in the adrenal and gonads. In contrast at 11 and 22 months basal as well as ACTH stimulated levels of 17OHPreg, DHEA and testosterone were typical for a 3 beta-HSD defect.
我们观察到一名患有生殖器模糊但睾丸正常的男孩。新生儿期进行的类固醇分析令人惊讶地发现，基础状态下以及人绒毛膜促性腺激素（hCG）刺激后结果均不明确，但显示睾酮反应不足。可能在出生后早期，外周组织中的3β-羟类固醇脱氢酶（3β-HSD）活性足以替代肾上腺和性腺中缺乏的3β-HSD活性。相比之下，在11个月和22个月时，基础状态以及促肾上腺皮质激素（ACTH）刺激后的17α-羟孕烯醇酮（17OHPreg）、脱氢表雄酮（DHEA）和睾酮水平具有3β-HSD缺陷的典型特征。
