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| 目的 通过对一例17β-羟类固醇脱氢酶3型的临床诊断及治疗过程的分析,探讨心理测试在DSD患儿诊治中的重要性。 方法 收集2024年12月在武汉儿童医院就诊的1例12岁2月染色体性别46,XY,社会性别为女性,最后确诊为17β-羟类固醇脱氢酶3型缺乏症的患者的诊治资料,分析其临床决策过程,并复习相关文献,探讨心理测试在决策过程中的作用。结果 该患者出生时即发现外生殖器似女性,阴唇肥大,按女性抚养。1岁时超声提示腹腔内存在睾丸,无子宫及卵巢。11岁开始发育,出现毛发增多,唇周胡须,声音变粗,阴蒂增长。染色体核型为46,XY。激素测定显示雄烯二酮偏高,且T/AD＜0.8。基因检测证实HSD17B3基因存在2处杂合变异。经心理评估提示存在性别焦虑。结论 46,XY 17β-羟类固醇脱氢酶3型缺乏症极其罕见且误诊率较高,内分泌评估及影像学检查后高度怀疑该病时,基因检测可进一步帮助明确诊断。由于此类患者遗传性别与社会性别不一致,到青春期又出现遗传性别发育,极易出现性别焦虑,明确诊断后需做性别心理测试和后续可能的治疗,并慎重进行性别选择。 |
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Jianhan University School of Medicine
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| Abstract: |
| Objective To explore the importance of psychological testing in the diagnosis and treatment of children with disorders of sex development (DSD) by analyzing the clinical diagnosis and treatment process of a case of 17β-hydroxysteroid dehydrogenase type 3 deficiency (17β-HSD3D). Methods The diagnostic and treatment data of a 12-year-and-2-month-old patient with social gender female, who was admitted to Wuhan Children"s Hospital in December 2024 and finally diagnosed with 17β-HSD3D, were collected. The clinical decision-making process was analyzed, and relevant literatures were reviewed to discuss the pathogenesis and the role of psychological testing in clinical treatment. Results Abnormal external genitalia were found in the patient at birth. Ultrasound at 1 year old showed intra-abdominal testes, without uterus or ovaries. Pubertal development started at 11 years old, with symptoms including increased hair growth, perioral beard, hoarse voice, and clitoral enlargement. The karyotype was 46, XY. Hormone determination showed elevated androstenedione (AD) and a testosterone (T)/AD ratio < 0.8. Genetic testing confirmed two heterozygous variants in the HSD17B3 gene. Psychological assessment indicates the presence of gender dysphoria. Conclusion 46, XY 17β-hydroxysteroid dehydrogenase type 3 deficiency is extremely rare and associated with a high rate of misdiagnosis. When the disease is highly suspected following endocrine evaluation and imaging examinations, genetic testing can further assist in confirming the diagnosis. Given the discrepancy between genetic sex and social gender in these patients, gender dysphoria is highly likely to develop. After a definitive diagnosis is established, gender psychological assessment and potential subsequent treatments are required, and gender assignment shall be made with extreme caution. |
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