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OR05-1 Testicular Magnetic Resonance Imaging (MRI) Findings and Predictive Factors of Gonadal Neoplasia in Complete Androgen Insensitivity Syndrome

INTRODUCTION: Complete Androgen Insensitivity Syndrome (CAIS) is characterized by a complete external genitalia appearance and testicular development in 46,XY individuals carrying inactivating mutations in the AR gene. Prophylactic gonadectomy versus saving gonads has been debatable in CAIS manageme...

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Autores principales: Carvalho, Filomena Marino, Coelho, Fernando Morbeck Almeida, Costa, Elaine Maria Frade, Craveiro, Flora Ladeira, Dantas, Patricia Perola, Domenice, Sorahia, Mendonca, Berenice Bilharinho, Viana, Publio Cesar Cavalcante, Batista, Rafael Loch
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625321/
http://dx.doi.org/10.1210/jendso/bvac150.1265
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author Carvalho, Filomena Marino
Coelho, Fernando Morbeck Almeida
Costa, Elaine Maria Frade
Craveiro, Flora Ladeira
Dantas, Patricia Perola
Domenice, Sorahia
Mendonca, Berenice Bilharinho
Viana, Publio Cesar Cavalcante
Batista, Rafael Loch
author_facet Carvalho, Filomena Marino
Coelho, Fernando Morbeck Almeida
Costa, Elaine Maria Frade
Craveiro, Flora Ladeira
Dantas, Patricia Perola
Domenice, Sorahia
Mendonca, Berenice Bilharinho
Viana, Publio Cesar Cavalcante
Batista, Rafael Loch
author_sort Carvalho, Filomena Marino
collection PubMed
description INTRODUCTION: Complete Androgen Insensitivity Syndrome (CAIS) is characterized by a complete external genitalia appearance and testicular development in 46,XY individuals carrying inactivating mutations in the AR gene. Prophylactic gonadectomy versus saving gonads has been debatable in CAIS management, mainly due to the absence of an accurate biomarker for testicular germ cell tumors (GCT). OBJECTIVE: to cross the preoperative pelvic MRI data with the histological gonadal findings from CAIS patients who underwent prophylactic gonadectomy to identify predictive factors of GCT development. METHODS: We evaluated 30 gonads from 15 CAIS patients with proven AR mutation. All performed pelvic MRI before gonadectomy through the same MRI machine and were included in the MRI data analysis. Three blinded radiologists specialized in urology performed image analysis. The immunohistochemical markers PLAP, c-KIT, OCT3/4, SALL4, ER, alpha-inhibin, CD99, and calretinin were performed. RESULTS: Nine (60%) performed gonadectomy after puberty (>16 years old). We identified one case of classical seminoma and one case of Sertoli cell neoplasia (at 18 and 19 years of age, respectively). Overall, the prevalence of neoplasia was 13.3%. No case of premalignant intratubular germ cell neoplasia was detected.Histological data revealed a high prevalence of benign lesions (n=12; 80%). Leydig Cell Hyperplasia (67%), stromal fibrosis (53%), Sertoli Cell nodules (47%), hamartomatoums nodules (40%) and paratesticular cysts (67%) which are more frequent after puberty (p<.01). MRI detected heterogeneity in all cases harboring hamartomatoums nodules, Sertoli cell nodules, and testicular neoplasia. Benign lesions were bilateral in all cases. Regarding the MRI data, the presence of testicular cystic mass (by tumoral necrosis) on MRI and tumor size (higher among malignancies) correlated with malignancy (p=.008 and p=.03, respectively), whereas gonadal location (inguinal/abdominal), presence of solid nodules, T2WI and postcontrast features, nodule diffusion restriction, and presence of perigonadal cysts did not. Chronological age >16 years was associated with malignancy with a 4.3 OR (1.6–11.69). CONCLUSION: Pelvic MRI is sensitive to detect gonadal nodules in CAIS patients, regardless of the gonad position, but most nodules are benign. Testicular malignancy should be suspicious in the presence of testicular cystic mass and large testis size in CAIS patients >16 years old. Presentation: Saturday, June 11, 2022 11:30 a.m. - 11:45 a.m.
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spelling pubmed-96253212022-11-14 OR05-1 Testicular Magnetic Resonance Imaging (MRI) Findings and Predictive Factors of Gonadal Neoplasia in Complete Androgen Insensitivity Syndrome Carvalho, Filomena Marino Coelho, Fernando Morbeck Almeida Costa, Elaine Maria Frade Craveiro, Flora Ladeira Dantas, Patricia Perola Domenice, Sorahia Mendonca, Berenice Bilharinho Viana, Publio Cesar Cavalcante Batista, Rafael Loch J Endocr Soc Pediatric Endocrinology INTRODUCTION: Complete Androgen Insensitivity Syndrome (CAIS) is characterized by a complete external genitalia appearance and testicular development in 46,XY individuals carrying inactivating mutations in the AR gene. Prophylactic gonadectomy versus saving gonads has been debatable in CAIS management, mainly due to the absence of an accurate biomarker for testicular germ cell tumors (GCT). OBJECTIVE: to cross the preoperative pelvic MRI data with the histological gonadal findings from CAIS patients who underwent prophylactic gonadectomy to identify predictive factors of GCT development. METHODS: We evaluated 30 gonads from 15 CAIS patients with proven AR mutation. All performed pelvic MRI before gonadectomy through the same MRI machine and were included in the MRI data analysis. Three blinded radiologists specialized in urology performed image analysis. The immunohistochemical markers PLAP, c-KIT, OCT3/4, SALL4, ER, alpha-inhibin, CD99, and calretinin were performed. RESULTS: Nine (60%) performed gonadectomy after puberty (>16 years old). We identified one case of classical seminoma and one case of Sertoli cell neoplasia (at 18 and 19 years of age, respectively). Overall, the prevalence of neoplasia was 13.3%. No case of premalignant intratubular germ cell neoplasia was detected.Histological data revealed a high prevalence of benign lesions (n=12; 80%). Leydig Cell Hyperplasia (67%), stromal fibrosis (53%), Sertoli Cell nodules (47%), hamartomatoums nodules (40%) and paratesticular cysts (67%) which are more frequent after puberty (p<.01). MRI detected heterogeneity in all cases harboring hamartomatoums nodules, Sertoli cell nodules, and testicular neoplasia. Benign lesions were bilateral in all cases. Regarding the MRI data, the presence of testicular cystic mass (by tumoral necrosis) on MRI and tumor size (higher among malignancies) correlated with malignancy (p=.008 and p=.03, respectively), whereas gonadal location (inguinal/abdominal), presence of solid nodules, T2WI and postcontrast features, nodule diffusion restriction, and presence of perigonadal cysts did not. Chronological age >16 years was associated with malignancy with a 4.3 OR (1.6–11.69). CONCLUSION: Pelvic MRI is sensitive to detect gonadal nodules in CAIS patients, regardless of the gonad position, but most nodules are benign. Testicular malignancy should be suspicious in the presence of testicular cystic mass and large testis size in CAIS patients >16 years old. Presentation: Saturday, June 11, 2022 11:30 a.m. - 11:45 a.m. Oxford University Press 2022-11-01 /pmc/articles/PMC9625321/ http://dx.doi.org/10.1210/jendso/bvac150.1265 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Pediatric Endocrinology
Carvalho, Filomena Marino
Coelho, Fernando Morbeck Almeida
Costa, Elaine Maria Frade
Craveiro, Flora Ladeira
Dantas, Patricia Perola
Domenice, Sorahia
Mendonca, Berenice Bilharinho
Viana, Publio Cesar Cavalcante
Batista, Rafael Loch
OR05-1 Testicular Magnetic Resonance Imaging (MRI) Findings and Predictive Factors of Gonadal Neoplasia in Complete Androgen Insensitivity Syndrome
title OR05-1 Testicular Magnetic Resonance Imaging (MRI) Findings and Predictive Factors of Gonadal Neoplasia in Complete Androgen Insensitivity Syndrome
title_full OR05-1 Testicular Magnetic Resonance Imaging (MRI) Findings and Predictive Factors of Gonadal Neoplasia in Complete Androgen Insensitivity Syndrome
title_fullStr OR05-1 Testicular Magnetic Resonance Imaging (MRI) Findings and Predictive Factors of Gonadal Neoplasia in Complete Androgen Insensitivity Syndrome
title_full_unstemmed OR05-1 Testicular Magnetic Resonance Imaging (MRI) Findings and Predictive Factors of Gonadal Neoplasia in Complete Androgen Insensitivity Syndrome
title_short OR05-1 Testicular Magnetic Resonance Imaging (MRI) Findings and Predictive Factors of Gonadal Neoplasia in Complete Androgen Insensitivity Syndrome
title_sort or05-1 testicular magnetic resonance imaging (mri) findings and predictive factors of gonadal neoplasia in complete androgen insensitivity syndrome
topic Pediatric Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625321/
http://dx.doi.org/10.1210/jendso/bvac150.1265
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