Catarina Carvalho, Anna Morandi, Inbal Samuk, Carlos Gine, Ramon Gorter, Maria Jose Martinez-Urrutia, Alejandra Vilanova-Sánchez
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Additionally, we investigated the presence of AG diagnosis in utero or at birth in patients with PC in the literature.</p><p><strong>Methods: </strong> The ARM-Net registry was scanned for PC cases and data on diagnosis were collected. A systematic literature search was conducted using the PubMed, EMbase, and Web-of-Science databases. Descriptive statistics was used to report data.</p><p><strong>Results: </strong> Nine patients with PC were identified in the ARM-Net registry. Five patients (55%) were diagnosed with AG, two (22%) were assigned as males and only two patients were correctly assigned as females and diagnosed with PC with respective variations of external genitalia. All patients diagnosed with AG had extensive blood testing including karyotype and hormonal studies. One of the patients who was diagnosed as a male, had surgery for pelvic cystic mass removal, which ultimately led to unaware salpingo-oophorectomy, hysterectomy, and vaginectomy. In the literature we identified 60 patients, 14 (23%) with AG, 1 with clitorolabial transposition and 1 with undeveloped vulva and vagina; 4 patients had normal anatomy. In 40 (67%) patients the anatomy of genitalia was not mentioned.</p><p><strong>Conclusion: </strong> Patients with PC are at high risk of being diagnosed with AG or even assigned the wrong gender at birth. In our series two patients were assigned as males, and consequently one of them underwent a highly mutilating surgery. A thorough physical examination together with a high index of suspicion and laboratory workup are mandatory to identify these variations, avoiding further investigations, unnecessary surgeries, and parental stress.</p>","PeriodicalId":56316,"journal":{"name":"European Journal of Pediatric Surgery","volume":null,"pages":null},"PeriodicalIF":1.5000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Anatomical Variations of the External Genitalia in Posterior Cloaca: Clinical Consequences of Misdiagnosis-A Systematic Review of the Literature and the ARM-Net Consortium Experience.\",\"authors\":\"Catarina Carvalho, Anna Morandi, Inbal Samuk, Carlos Gine, Ramon Gorter, Maria Jose Martinez-Urrutia, Alejandra Vilanova-Sánchez\",\"doi\":\"10.1055/a-2244-4551\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong> All types of cloacal malformations may be associated with anatomic variations of the external genitalia, including hypoplasia of the labia minora and enlarged clitoris; these variations could be even higher in posterior cloacas (PCs). If a careful physical examination is not performed, patients may be misdiagnosed with ambiguous genitalia (AG), leading to subsequent unnecessary testing, surgeries, or even wrong gender assignment. The aim was to analyze data of patients with PC within the ARM-Net registry, focusing on the description of the genitalia, gender assignment, and its consequences. Additionally, we investigated the presence of AG diagnosis in utero or at birth in patients with PC in the literature.</p><p><strong>Methods: </strong> The ARM-Net registry was scanned for PC cases and data on diagnosis were collected. A systematic literature search was conducted using the PubMed, EMbase, and Web-of-Science databases. Descriptive statistics was used to report data.</p><p><strong>Results: </strong> Nine patients with PC were identified in the ARM-Net registry. 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引用次数: 0
摘要
目的:所有类型的泄殖腔畸形都可能与外生殖器的解剖变异有关,包括小阴唇发育不良和阴蒂肥大;这些变异在后泄殖腔(PC)中可能更为严重。如果不进行仔细的体格检查,患者可能会被误诊为生殖器不明确,从而导致不必要的检查、手术甚至错误的性别鉴定。我们的目的是分析 ARM-Net 登记册中 PC 患者的数据,重点是生殖器的描述、性别分配及其后果。此外,我们还调查了文献中 PC 患者在子宫内或出生时被诊断出生殖器畸形(AG)的情况:方法:我们扫描了 ARM-Net 注册表中的 PC 病例,并收集了有关诊断的数据。使用 PubMed、EMbase 和 Web-of-Science 数据库进行了系统的文献检索。数据报告采用描述性统计方法:结果:ARM-Net登记处共发现9例PC患者。5名患者(55%)被诊断为AG,2名患者(22%)被诊断为男性,只有2名患者被正确地诊断为女性,并被诊断为PC,且外生殖器各不相同。所有被诊断为 AG 的患者都进行了广泛的血液检测,包括核型和激素研究。其中一名被诊断为男性的患者接受了盆腔囊性肿块切除手术,最终导致不知不觉的输卵管切除术、子宫切除术和阴道切除术。我们在文献中找到了 60 例患者,其中 14 例(23%)患有 AG,1 例患有阴蒂阴唇移位,1 例外阴和阴道未发育;4 例患者解剖结构正常。有 40 例(67%)患者未提及生殖器的解剖结构。结论 PC 患者被诊断为 AG 甚至在出生时被指定为错误性别的风险很高。在我们的系列研究中,有两名患者被指定为男性,其中一人因此接受了严重的毁损手术。要识别这些变异,必须进行彻底的身体检查、高度怀疑和实验室检查,以避免进一步的检查、不必要的手术和父母的压力。
Anatomical Variations of the External Genitalia in Posterior Cloaca: Clinical Consequences of Misdiagnosis-A Systematic Review of the Literature and the ARM-Net Consortium Experience.
Purpose: All types of cloacal malformations may be associated with anatomic variations of the external genitalia, including hypoplasia of the labia minora and enlarged clitoris; these variations could be even higher in posterior cloacas (PCs). If a careful physical examination is not performed, patients may be misdiagnosed with ambiguous genitalia (AG), leading to subsequent unnecessary testing, surgeries, or even wrong gender assignment. The aim was to analyze data of patients with PC within the ARM-Net registry, focusing on the description of the genitalia, gender assignment, and its consequences. Additionally, we investigated the presence of AG diagnosis in utero or at birth in patients with PC in the literature.
Methods: The ARM-Net registry was scanned for PC cases and data on diagnosis were collected. A systematic literature search was conducted using the PubMed, EMbase, and Web-of-Science databases. Descriptive statistics was used to report data.
Results: Nine patients with PC were identified in the ARM-Net registry. Five patients (55%) were diagnosed with AG, two (22%) were assigned as males and only two patients were correctly assigned as females and diagnosed with PC with respective variations of external genitalia. All patients diagnosed with AG had extensive blood testing including karyotype and hormonal studies. One of the patients who was diagnosed as a male, had surgery for pelvic cystic mass removal, which ultimately led to unaware salpingo-oophorectomy, hysterectomy, and vaginectomy. In the literature we identified 60 patients, 14 (23%) with AG, 1 with clitorolabial transposition and 1 with undeveloped vulva and vagina; 4 patients had normal anatomy. In 40 (67%) patients the anatomy of genitalia was not mentioned.
Conclusion: Patients with PC are at high risk of being diagnosed with AG or even assigned the wrong gender at birth. In our series two patients were assigned as males, and consequently one of them underwent a highly mutilating surgery. A thorough physical examination together with a high index of suspicion and laboratory workup are mandatory to identify these variations, avoiding further investigations, unnecessary surgeries, and parental stress.
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