Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review.

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.

Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development.

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.

Gonadal response after a single-dose stimulation test with recombinant human chorionic gonadotropin (rhCG) in patients with isolated prepubertal cryptorchidism.

BACKGROUND: The evaluation of prepubertal gonadal Leydig cells secretion requires gonadotropin stimulation. Urinary hCG (human chorionic gonadotropin) is currently unavailable in many countries, however, recombinant hCG (rhCG) can be used. Our aim was to evaluate rhCG-stimulated testicular hormones in a group of patients with cryptorchidism. METHODS: We evaluated 31 prepubertal boys (age range, 0.75-9.0 years) presenting with unilateral (n = 24) or bilateral (n = 7) cryptorchidism. Patients with other genital abnormalities, previous use of hCG or testosterone or previous surgeries were excluded. Blood samples were obtained at baseline and 7 days after a single subcutaneous dose of rhCG (Ovidrel® 250 mcg) to measure the testosterone, DHT (dihydrotestosterone), AMH (anti-Mullerian hormone), and inhibin B levels. RESULTS: rhCG stimulation significantly increased testosterone levels from 10 ng/dl to 247.8 ± 135.8 ng/dl, increased DHT levels from 4.6 ± 0.8 to 32.3 ± 18.0 ng/dl, and increased the T/DHT ratio from 2.2 ± 0.4 to 8.0 ± 3.5. There was also a significant increase in inhibin B (from 105.8 ± 65.2 to 132.4 ± 56.1 pg/ml; p < 0.05) and AMH levels (from 109.4 ± 52.6 to 152.9 ± 65.2 ng/ml; p < 0.01) after the rhCG stimulation. CONCLUSIONS: In this cohort, hormonal responses can be elicited after the rhCG stimulation test, suggesting that rhCG is a promising stimulation test to replace the urinary hCG test during the evaluation of gonadal Leydig cells function. The clinical applicability and adequate performance of rhCG testing must be investigated in future studies.

CONTEXTE: L'évaluation de la sécrétion des cellules gonadiques de Leydig prépubères nécessite une stimulation par les gonadotrophines. La gonadotrophine chorionique humaine (hCG) urinaire est actuellement indisponible dans de nombreux pays; toutefois, l'hCG recombinante (rhCG) peut être utilisée. Notre objectif était d'évaluer les hormones testiculaires sous stimulation par rhCG dans un groupe de patients qui présentaient une cryptorchidie. MÉTHODES: Nous avons évalué 31 garçons prépubères (âgés de 0,75 à 9 ans) qui présentaient une cryptorchidie uni (n=24) ou bilatérale (n=7). Ont été exclus les patients avec d'autres anomalies génitales, ceux qui avaient été traités auparavant par hCG ou testostérone ou par chirurgie. Des échantillons sanguins ont été prélevés au départ et à 7 jours après une unique dose sous cutanée de rhCG (Ovidrel® 250 mcg) pour les mesures des taux de testostérone, dihydrotestostérone (DHT), hormone antimüllérienne (AMH) et inhibine B. RÉSULTATS: La stimulation par rhCG augmente de façon significative les taux de testostérone de 10 ng/dl à 247.8±135.8 ng/dl, de DHT de 4.6±0.8 à 32.3±18.0 ng/dl, et le ratio T/DHT de 2.2±0.4 à 8.0±3.5. Les taux d'inhibine B (de 105.8±65.2 à 132.4±56.1 pg/ml; p< 0.05) et d'AMH (de 109.4±52.6 to 152.9±65.2 ng/ml; p< 0.01) ont aussi été significativement augmentés après stimulation par rhCG. CONCLUSION: Dans cette cohorte, des réponses hormonales ont été obtenues après le test de stimulation par rhCG; ceci suggère que rhCG est un test de stimulation prometteur pour remplacer le test par l'hCG urinaire lors de l'évaluation de la fonction gonadique des cellules de Leydig. L'applicabilité clinique et l'évaluation adéquate de la performance du test par rhCG doivent être étudiées dans de futures études.

Trauma faringo-laríngeo aberto / External laryngopharyngeal trauma

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.