Gonadal tumor development in 46,XX disorders of gonadal development.

Autor:	Costanzo M; Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina., Touzon MS; Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina.; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina., Marino R; Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina., Guercio G; Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina.; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina., Ramirez P; Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina., Mattone MC; Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina.; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina., Pérez Garrido N; Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina., Bailez MM; Servicio de Cirugía, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina., Vaiani E; Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina., Ciaccio M; Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina., Galluzzo Mutti ML; Servicio de Patología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina., Belgorosky A; Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina.; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina., Berensztein E; Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina.; 2da. Unidad Académica de Histología, Departamento de Histología y Biología Celular, Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina.
Jazyk:	angličtina
Zdroj:	European journal of endocrinology [Eur J Endocrinol] 2022 Jul 29; Vol. 187 (3), pp. 451-462. Date of Electronic Publication: 2022 Jul 29 (Print Publication: 2022).
DOI:	10.1530/EJE-22-0283
Abstrakt:	Background: Differences/disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Objective: The aim of this study is to report the histological characteristics and immunoexpression patterns of gonadal parenchyma in patients with 46,XX testicular and ovotesticular DSD, with a focus on the detection of germ cell malignancies. Design: Inclusion criteria were SRY-negative 46,XX testicular and ovotesticular DSD with available samples from gonadal biopsy or gonadectomy for the review of histological findings. Gonadal histology was assessed on hematoxylin and eosin-stained sections and immunohistochemical analysis. Histopathological criteria from the last World Health Organization classification of urogenital tumors were used to identify undifferentiated gonadal tissue, gonadoblastoma, and dysgerminoma. Results: Median age at first histological evaluation of gonadal samples was 1.46 years (range: 0.16-16 years). Totally 15 patients were classified as ovotesticular and only 1 as testicular DSD. Most individuals had bilateral ovotestes (12/15). No histological alterations were found in the ovarian parenchyma, while signs of dysgenesis were seen in all cases of testicular parenchyma. In 4/15 ovotesticular DSD, a prepubertal biopsy failed to identify ovarian parenchyma. We detected early prepubertal preinvasive and invasive malignancies in this cohort (five patients had undifferentiated gonadal tissue, five gonadoblastoma, and one dysgerminoma). Conclusion: 46,XX disorders of gonadal development are historically considered at a low risk for germ cell cancer, and the need for assessment of gonadal histology has been questioned. The finding of early germ cell malignancies in our cohort brings awareness and needs further research.
Databáze:	MEDLINE
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