Anhalt H, Neely E K, Hintz R L
The Brooklyn Hospital Center, New York, NY, USA.
Pediatr Rev. 1996 Jun;17(6):213-20. doi: 10.1542/pir.17-6-213.
The newborn whose genitalia are ambiguous presents a challenge to the pediatrician and the family. A clear understanding of the basis of sex differentiation and timely consultation with a pediatric endocrinologist is critical in the evaluation and determination of sex of rearing in a newborn who has ambiguous genitalia. Sex karyotype and a 17-OHP level may suffice in the initial evaluation of female pseudohermaphroditism because most patients will have virilizing CAH. If male pseudohermaphroditism is suspected on the basis of palpable gonads, we routinely obtain a karyotype, basal adrenal steroid levels, and levels of hCG-stimulated serum testosterone and DHT, then consider a testosterone treatment trial. Physicians who care for children who have ambiguous genitalia must appreciate the family's cultural, religious, and psychological needs and avoid determining sex of rearing before accurate diagnosis is reached.
生殖器模糊不清的新生儿给儿科医生和患儿家庭带来了挑战。清楚了解性别分化的基础并及时咨询儿科内分泌专家，对于评估和确定生殖器模糊不清的新生儿的抚养性别至关重要。性染色体核型和17-羟孕酮水平在女性假两性畸形的初步评估中可能就足够了，因为大多数患者会患有雄激素化先天性肾上腺皮质增生症。如果根据可触及的性腺怀疑为男性假两性畸形，我们通常会进行染色体核型分析、基础肾上腺类固醇水平检测以及人绒毛膜促性腺激素刺激后的血清睾酮和双氢睾酮水平检测，然后考虑进行睾酮治疗试验。照料生殖器模糊不清患儿的医生必须了解家庭的文化、宗教和心理需求，在做出准确诊断之前避免确定抚养性别。
