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两性畸形病例的性别指定

Sex Assignment in Cases of Ambiguous Genitalia.

作者信息

Mohammed Hajira, Ansari Nesa, Baig Ahmed Zafar, Alshowaikhat Joud J, Uz Zama Madiha M, Hussain Timraz Jumana, Ahmed Ruqayyah A, Samy Mohommad

机构信息

Department of Medicine and Surgery, Batterjee Medical College for Science and Technology, Jeddah, SAU.

Department of General Surgery, General Medicine Practice Program, Batterjee Medical College for Science and Technology, Jeddah, SAU.

出版信息

Cureus. 2024 Nov 29;16(11):e74730. doi: 10.7759/cureus.74730. eCollection 2024 Nov.

DOI:10.7759/cureus.74730
PMID:39735144
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11682607/
Abstract

Ambiguous genitalia is a rare disorder where it is unclear whether an infant's external genitals are male or female. This can be attributed to various internal and external etiologies, such as androgen receptor abnormalities, gonadal abnormalities (such as gonadal dysgenesis or Klinefelter syndrome where a male has an extra X chromosome), enzymatic defects, etc. Correction of such atypical genitalia requires a multidisciplinary approach, including but not limited to surgeons and therapists. It is important to keep in mind that the treatment plan is tailored according to the specific etiology that is causative of the patient's condition, along with the anticipated perioperative and postoperative complications. Islamically speaking, this topic has been addressed in various Islamic literature and disciplines, including guidelines for dealing with this medical condition. Moreover, follow-up of the patient must be done to allow smooth integration into society.

摘要

两性畸形是一种罕见的病症,婴儿的外生殖器难以明确界定为男性或女性。这可能归因于多种内部和外部病因,如雄激素受体异常、性腺异常(如性腺发育不全或克兰费尔特综合征,男性多一条X染色体)、酶缺陷等。矫正这种非典型生殖器需要多学科方法,包括但不限于外科医生和治疗师。重要的是要记住,治疗方案是根据导致患者病情的具体病因以及预期的围手术期和术后并发症量身定制的。从伊斯兰教角度来看,这个话题在各种伊斯兰文献和学科中都有涉及,包括处理这种病症的指导方针。此外,必须对患者进行随访,以使其顺利融入社会。

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1
Sex Assignment in Cases of Ambiguous Genitalia.两性畸形病例的性别指定
Cureus. 2024 Nov 29;16(11):e74730. doi: 10.7759/cureus.74730. eCollection 2024 Nov.
2
[Causes of ambiguous external genitalia in neonates].[新生儿外生殖器模糊的原因]
Srp Arh Celok Lek. 2001 Mar-Apr;129(3-4):57-60.
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Ambiguous genitalia: An overview of 7 years experience at the Children's Hospital & Institute of Child Health, Lahore, Pakistan.两性畸形:巴基斯坦拉合尔儿童医院及儿童健康研究所7年经验概述
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Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience.两性畸形患者先天性畸形的风险关联:22 年单中心经验。
J Pediatr Urol. 2018 Apr;14(2):153.e1-153.e7. doi: 10.1016/j.jpurol.2017.09.027. Epub 2017 Nov 20.
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Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients.120例儿科患者生殖器模糊的细胞遗传学与病因学
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Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature.唐氏综合征与性发育障碍的关联:三例报告及文献中188例病例回顾
Sex Dev. 2020;14(1-6):3-11. doi: 10.1159/000513415. Epub 2021 Mar 2.
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Diagnostic approach to the newborn with ambiguous genitalia.对生殖器模糊新生儿的诊断方法。
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Abnormalities of gonadal differentiation.性腺分化异常。
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Increased risk of gonadal malignancy and prophylactic gonadectomy: a study of 102 phenotypic female patients with Y chromosome or Y-derived sequences.Y 染色体或 Y 染色体衍生序列存在的表型女性患者 102 例,研究其生殖腺恶性肿瘤风险增高和预防性性腺切除术。
Hum Reprod. 2014 Jul;29(7):1413-9. doi: 10.1093/humrep/deu109. Epub 2014 May 14.
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Embryonic testicular regression sequence: a part of the clinical spectrum of 46,XY gonadal dysgenesis.胚胎睾丸退化序列:46,XY性腺发育不全临床谱系的一部分。
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本文引用的文献

1
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.对携带 NR5A1/SF-1 变异 p.Gly146Ala 的性别发育差异患者进行的基因重新分析发现了其他可能的致病变异。
PLoS One. 2023 Jul 11;18(7):e0287515. doi: 10.1371/journal.pone.0287515. eCollection 2023.
2
Ambiguous genitalia: clinical management of adult female with male assigned gender: a case report.性别不明生殖器:女性患者被指定为男性的临床管理:病例报告。
J Med Case Rep. 2021 Jul 12;15(1):362. doi: 10.1186/s13256-021-02914-2.
3
Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.青少年和成年期患有性发育差异(DSD)的性别认同障碍(GID):一项系统评价和荟萃分析。
J Pediatr Urol. 2021 Feb;17(1):39-47. doi: 10.1016/j.jpurol.2020.11.017. Epub 2020 Nov 12.
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Molecular genetics of disorders of sex development in a highly consanguineous population.高度近亲婚配人群中性别发育障碍的分子遗传学研究。
J Steroid Biochem Mol Biol. 2021 Apr;208:105736. doi: 10.1016/j.jsbmb.2020.105736. Epub 2020 Aug 9.
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Gender Identity and Assignment Recommendations in Disorders of Sex Development Patients: 20 Years’ Experience and Challenges.性别认同和性别指定建议在性发育障碍患者:20 年的经验和挑战。
J Clin Res Pediatr Endocrinol. 2020 Nov 25;12(4):347-357. doi: 10.4274/jcrpe.galenos.2020.2020.0009. Epub 2020 Mar 26.
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Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents.染色体镶嵌型混合性性腺发育不全的临床管理:新生儿和青少年的注意事项
Semin Pediatr Surg. 2019 Oct;28(5):150841. doi: 10.1016/j.sempedsurg.2019.150841. Epub 2019 Sep 19.
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The impact of culture on disclosure in differences of sex development.文化对性发育差异中信息披露的影响。
Semin Pediatr Surg. 2019 Oct;28(5):150840. doi: 10.1016/j.sempedsurg.2019.150840. Epub 2019 Sep 13.
8
What Term to Choose: Ambiguous Genitalia or Disorders of Sex Development (DSD)?该选择什么术语:生殖器模糊还是性发育障碍(DSD)?
Front Pediatr. 2019 Jul 30;7:316. doi: 10.3389/fped.2019.00316. eCollection 2019.
9
A Clinical Approach to Diagnosis of Ambiguous Genitalia.两性畸形诊断的临床方法
J Indian Assoc Pediatr Surg. 2019 Jul-Sep;24(3):162-169. doi: 10.4103/jiaps.JIAPS_70_18.
10
Initial assessment of a child with suspected disorder of sex development.对疑似性发育障碍儿童的初步评估。
J Pak Med Assoc. 2019 May;69(5):711-717.