Dual-sex birth tests are often not clearly diagnosed directly through regular examinations. Fetal sex development abnormalities involve complex variations in chromosomes, glands and anatomical structures, and routine ultrasounds primarily assess physiological structures rather than gender development。
Antenatal ultrasound shows the appearance of external genitals, but double-sex behaviour is highly heterosexual. While some cases may reveal vague or atypical external genitals, in most cases ultrasounds make it difficult to distinguish between physiological variability and pathological anomalies. The chromosomal nucleus analysis is an important aid, with genetic tests of foetal cells obtained through amniotic cavities and the detection of sexual chromosomal numbers or structural anomalies. However, the normality of the chromosomes does not exclude the possibility of double sex, as some cases are caused by single gene mutations or hormonal metabolic anomalies。
Magnetic resonance imaging has a high resolution to the soft tissue and can be used to assess the presence of internal genital development, such as uterus, prostate, etc. However, there are limitations to video censorship, and certain microstructure anomalies may not be detected until after birth. The hormonal level test provides a reference basis for diagnosis by analysing indicators such as male hormones in the mother's blood or sheep water, anti-muller tube hormones, subject to a combination of multi-dimensional tests。
In case of early detection of problems in the development of the reproductive system of the foetus, referral is recommended to a medical centre with a specialist in foetal medicine. Multidisciplinary team collaboration is essential and should include geneticists, endocrinologists and paediatric surgeons. Genetic counselling helps parents to understand the spectrum and prognosis of diseases, and decision-making processes need to fully respect family cultural values and ethical considerations. After birth, hormonal testing, genetic testing and image assessment need to be improved, and individualized treatment programmes should be based on specific stratification. The psychological support of families is also essential for long-term follow-up management。
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