RESUMO

Complete androgen insensitivity syndrome (CAIS) is a rare condition characterized by 46,XY karyotype, female external genitalia, absence of uterus, and testes located intra-abdominally, in the inguinal ring or in the labia majora. In the present study, the frequency of testicular malignancy in prepubertal and pubertal patients with CAIS who underwent gonadectomy or gonadal biopsy were evaluated. Systematic review was performed using electronic databases according to the PRISMA-P (Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols) guidelines. The samples included 15 articles published between 1998 and 2019. From a total of 456 patients who underwent gonadectomy or gonadal biopsy, 6.14% had a premalignant lesion and most were postpubertal (82.14%). A malignant lesion was found in 1.3% and all were postpubertal. Because the risk of malignancy is very low in prepubertal patients with CAIS, gonadectomy may be delayed until puberty is complete, allowing it to progress naturally; however, close follow-up of the patient is required.

RESUMO

OBJECTIVE: Steroid measurement is a challenge in pediatric endocrinology. Currently, liquid chromatography with tandem mass spectrometry (LC-MS/MS) is considered a gold standard for this purpose. The aim of this study was to compare both LC-MS/MS and immunoassay (IA) for androgens before and after human recombinant chorionic gonadotropin (rhCG) stimulus in children with 46,XY disorders of sex development (DSD). METHODS: Nineteen patients with 46,XY DSD were evaluated; all of them were prepubertal and non-gonadectomized. Testosterone, dihydrotestosterone (DHT), DHEA and androstenedione were measured by IA and LC-MS/MS before and 7 days after rhCG injection. The correlation between IA and LC-MS/MS was analyzed by the intraclass correlation coefficient (ICC) and Spearman's rank correlation coefficient (SCC). For concordance analysis the Passing and Bablok (PB) regression and the Bland and Altman (BA) method were used. RESULTS: Testosterone showed excellent correlation (ICC = 0.960 and SCC = 0.964); DHT showed insignificant and moderate correlations as indicated by ICC (0.222) and SCC (0.631), respectively; DHEA showed moderate correlation (ICC = 0.585 and SCC = 0.716); and androstenedione had poor and moderate correlations in ICC (0.363) and SCC (0.735), respectively. Using the PB method, all hormones showed a linear correlation, but proportional and systematic concordance errors were detected for androstenedione, systematic errors for testosterone and no errors for DHEA and DHT. By the BA method, there was a trend of IA to overestimate testosterone and androstenedione and underestimate DHEA and DHT when compared to LC-MS/MS. CONCLUSION: Traditional IA should be replaced by LC-MS/MS for the androgens measurement in prepubertal children whenever is possible.

RESUMO

Este trabalho se refere a um caso de trauma perfurante no pescoço devido à chifrada de boi, em que houve fratura da cartilagem tireóide, desinserção das pregas vocais, laceração da parede posterior da hipofaringe e fratura de corpo vertebral (C4) sem lesão do canal medular.No trauma aberto de laringe, o paciente pode apresentar alterações da voz, disfagia, dispnéia, estridor, enfizema subcutâneo, hemoptise ou fratura da cartilagem tireóide, podendo evoluir com estenose, disfonia, aspiração e morte. O relato do caso é importante por ser um trauma perfurante com etiologia pouco freqüente e, apesar da gravidade, o paciente evoluiu sem seqüelas.

This report describes a case of a perforation trauma of neck caused by a bull's horns attack, with fracture of the thyroid cartilage, disinsertion of the vocal folds, laceration of the hypopharynx and fracture of the vertebral body (C4) without lesion of the medullar channel. A patient with laryngeal open trauma can show voice alterations, dysphagia, dyspnea, stridor, subcutaneous emphysema, hemoptysis, fracture of the thyroid cartilage and later with stenosis, dysphonia, aspiration and death. The relevance of this report is due to its low frequent etiology and, in spite of its graveness the patient recovered without sequels.