雄性化评分系统在46,XY性别发育异常儿童性别分配中的作用探讨
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摘要
目的探讨雄性化评分系统在评估46,XY DSD患儿生殖系统结构畸形中的应用。方法本研究采用的雄性化评分系统包括外生殖器雄性化评分(external masculinization score,EMS)和内生殖器雄性化评分(internal masculinization score,IMS),分别对416例体检男童和106例46,XY DSD患儿进行评估,联合多学科专家会诊后对性别分配结果及其相关的临床表现进行分析。结果 416例体检的男童中,415例EMS得分≥11分,1例小阴茎儿童EMS得分<11分。106例46,XY DSD患儿中,性别分配为男性者(男性组)81例,EMS中位得分为6(3,10)分,IMS中位得分为9(9,9)分;分配为女性者(女性组)25例,EMS中位得分为2(1.5,2)分,IMS中位得分为9(7,9)分。男女两组间EMS得分有统计学差异,男性组得分较高(P=0.000);两组间IMS得分无统计学差异。女性组子宫、尿生殖窦、阴道/前列腺囊的发生率和输精管缺失率明显高于男性组(P <0.05)。结论雄性化评分系统提供了一种相对客观、规范且简单易行的内外生殖管道雄性化程度评估方法,为性别分配及性别发育异常的进一步诊治提供了参考依据。
Objective To evaluate the role of masculinization score in the assessment of 46,XY disorders of sex development(DSD).Methods With a specially devised scoring system, external masculinization score(EMS) and internal masculinization score(IMS) were used for assessing 416 physical examination boys and 106 cases of 46,XY DSD. Results In physical examination boys,415(99. 8%) had EMS≥ 11. Among affected children, sex of rearing was boy(n =81) and girl(n =25). The median scores of EMS and IMS were 6(3,10),9(9, 9) and 2(15,2),9(7,9) points respectively. Statistical difference existed in inter-gender EMS score. Boy group had a higher score(P =0. 000); There was no statistical difference in inter-gender IMS score.For IMS score, the incidence of uterus, urogenital sinus, vagina/prostatic cyst and deficiency of deferent duct were higher in boy than those in girl(P < 0. 05). Conclusion EMS/IMS provides a objective, standardized and simple format of assessing the clinical features of children with 46,XY DSD.
Objective To evaluate the role of masculinization score in the assessment of 46,XY disorders of sex development(DSD).Methods With a specially devised scoring system, external masculinization score(EMS) and internal masculinization score(IMS) were used for assessing 416 physical examination boys and 106 cases of 46,XY DSD. Results In physical examination boys,415(99. 8%) had EMS≥ 11. Among affected children, sex of rearing was boy(n =81) and girl(n =25). The median scores of EMS and IMS were 6(3,10),9(9, 9) and 2(15,2),9(7,9) points respectively. Statistical difference existed in inter-gender EMS score. Boy group had a higher score(P =0. 000); There was no statistical difference in inter-gender IMS score.For IMS score, the incidence of uterus, urogenital sinus, vagina/prostatic cyst and deficiency of deferent duct were higher in boy than those in girl(P < 0. 05). Conclusion EMS/IMS provides a objective, standardized and simple format of assessing the clinical features of children with 46,XY DSD.
引文
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7 Mendonca BB,Domenice Sorahia,Amhold Ivo JP,et al.46,XY disorders of sex development(DSD)[J]. Clinical Endocrinology,2010, 70(2):173-187. DOI:10. 1111/j.1365-2265. 2008. 03392.x.
8 Tobet S,Knoll JG,Hartshorn C,et al. Brain sex differences and hormone influences:a moving experience?[J] J Neuroendocrinology, 2009, 21(4):387-392. DOI:10. 1111/j.1365-2826. 2009. 01834.x.
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10 Ahmed SF, Khwaja O, Hughes IA. The role of a clinical score in the assessment of ambiguous genitalia[J]. BJU international, 2000,85(1):120-124. DOI:10. 1046/.j. 1464-410x. 2000.00354.x.
11 Al-Jurayyan NAM. Ambiguous Genitalia,Two Decades of Experience:Clinical Management and Sex Assignment[J]. Journal of Taibah University Medical Sciences, 2010,5(1):13-20. DOI:10. 1016/S1658-3612(10)70119-0.
12 Zuffardi 0,Gargantini L,Lambiase S,et al. Presumptive mosaic origin of an XX/XY female with ambiguous genitalia[J]. Journal of Medical Genetics, 1987,24(3):177-180.
13 Cameron FJ, Montatlto J, Byrt EA, et al. Gonadal dysgenesis association between clinical features and sex of rearing[D]. Endocrine J, 1997,44(1):95-104. DOI:10. 1507/endo-crj. 44.95.
14 Lee YS,Kirk JM,Stanhope RG,et al. Phenotypic variability in 17β-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. Clinical Endocrinology,2007,67(1):20-28.DOI:10. 1016/s0084-3741(08)79196-0.
15 Mendonca B, B, Inacio M, Arnhold 1J, et al. Male pseudohermaphroditism due to 17(3-hydroxy steroid dehydrogenase-3 deficiency. Diagonosis, psychological evaluation and management. Medicine(Baltimore), 2000,79(5):299-309.DOI:10. 1097/00005792-200009000-00003.
16 BB Mendonca, M Inacio, EM Costa,et al. Male pseudo-hermaphroditism due to 5 a-reductase 2 deficiency:Diagonosis,psychological evaluation and management. Medicine(Baltimore),1996,75(1):64-76. DOI:10. 1097/00005792-199603000-00003.
17 BB Mendonca. Male pseudo-hermaphroditism due to 5α-reductase2 deficiency:outcome of a Brazilian cohort. Endocrindogist,2003,13(3):201-204. DOI:10. 1097/01. ten.0000 081675.43801.42.
2 Aaronson LA, Aaronson AJ. How should we classify intersex disorders?[J]. J P Urol, 2010, 6(5):443-446. DOI:10.1016/j. jpurol. 2010.04. 008.
3 Ahmed SF,Achermann JC,Arlt W,et al. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development[J]. Clinical Endocrinology,2011,75(1):12-26. DOI:10. 1111/j. 1365-2265.2011.04076. x.
4 Lee PA,Nordenstrom A,Houk CP,et al. Global disorders of sex development update since 2006:perceptions,approach and care[J]. Hormone Research in Paediatrics,2016, 85(3):158-180.
5 De Paula GB,Barros BA,Carpini Stela,et al. 408 cases of genital ambiguity followed by single multidisciplinary team during 23 years:etiologic diagnosis and sex of rearing[J].International Journal of Endocrinology,2016,2016(5):1-9.DOI:10.1155/2016/4963574.
6 Palmer BW,Wisniewski AB,Schaeffer TL,et al. A model of delivering multi-disciplinary care to people with 46 XY DSD[J]. Journal of Pediatric Urology, 2012,8(1):7-16. DOI:10.1016/j. jpurol. 2011.08.013.
7 Mendonca BB,Domenice Sorahia,Amhold Ivo JP,et al.46,XY disorders of sex development(DSD)[J]. Clinical Endocrinology,2010, 70(2):173-187. DOI:10. 1111/j.1365-2265. 2008. 03392.x.
8 Tobet S,Knoll JG,Hartshorn C,et al. Brain sex differences and hormone influences:a moving experience?[J] J Neuroendocrinology, 2009, 21(4):387-392. DOI:10. 1111/j.1365-2826. 2009. 01834.x.
9 Hrabovszky Z, Huston JM. Androgen imprinting of the brain in animal models and humans with intersex disorders:review and recommendations[J]. J Urology,2002,168(5):2142-2148. DOI:10. 1016/S0022-5347(05)64338-8.
10 Ahmed SF, Khwaja O, Hughes IA. The role of a clinical score in the assessment of ambiguous genitalia[J]. BJU international, 2000,85(1):120-124. DOI:10. 1046/.j. 1464-410x. 2000.00354.x.
11 Al-Jurayyan NAM. Ambiguous Genitalia,Two Decades of Experience:Clinical Management and Sex Assignment[J]. Journal of Taibah University Medical Sciences, 2010,5(1):13-20. DOI:10. 1016/S1658-3612(10)70119-0.
12 Zuffardi 0,Gargantini L,Lambiase S,et al. Presumptive mosaic origin of an XX/XY female with ambiguous genitalia[J]. Journal of Medical Genetics, 1987,24(3):177-180.
13 Cameron FJ, Montatlto J, Byrt EA, et al. Gonadal dysgenesis association between clinical features and sex of rearing[D]. Endocrine J, 1997,44(1):95-104. DOI:10. 1507/endo-crj. 44.95.
14 Lee YS,Kirk JM,Stanhope RG,et al. Phenotypic variability in 17β-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. Clinical Endocrinology,2007,67(1):20-28.DOI:10. 1016/s0084-3741(08)79196-0.
15 Mendonca B, B, Inacio M, Arnhold 1J, et al. Male pseudohermaphroditism due to 17(3-hydroxy steroid dehydrogenase-3 deficiency. Diagonosis, psychological evaluation and management. Medicine(Baltimore), 2000,79(5):299-309.DOI:10. 1097/00005792-200009000-00003.
16 BB Mendonca, M Inacio, EM Costa,et al. Male pseudo-hermaphroditism due to 5 a-reductase 2 deficiency:Diagonosis,psychological evaluation and management. Medicine(Baltimore),1996,75(1):64-76. DOI:10. 1097/00005792-199603000-00003.
17 BB Mendonca. Male pseudo-hermaphroditism due to 5α-reductase2 deficiency:outcome of a Brazilian cohort. Endocrindogist,2003,13(3):201-204. DOI:10. 1097/01. ten.0000 081675.43801.42.