IMPE2023 Free Communications Endocrinology of Sex Differences 1 (4 abstracts)
Characterization and follow-up of a cohort of thirty patients with 46,XX testicular/ovotesticular disorders of sexual development
María Celeste Mattone 1,2 , Esperanza Berensztein 1,3 , Roxana Marino 1 , María Sol Touzón 4 , María Marcela Bailez 5 , Vanina Nielsen 6 , Santiago Weller 7 , María Laura Galluzzo Mutti 8 , Juan Manuel Lazzati 1 , María Belén Martinez 9 , Valeria Bulgach 10 , Pablo César Ramírez 1 , Natalia Pérez Garrido 1 , Marta Ciaccio 1 , Alicia Belgorosky 1,2 , Gabriela Guercio 1,2 & Mariana Costanzo 1
1Servicio de Endocrinología, Hospital de Pediatría Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina. 2Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina. 32da. Unidad Académica de Histología, Departamento de Histología y Biología Celular, Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina. 4Laboratorio de Genómica, Hospital de Pediatría Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina. 5Servicio de Cirugía, Hospital de Pediatría Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina. 6Servicio de Salud Mental, Hospital de Pediatría Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina. 7Servicio de Urología, Hospital de Pediatría Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina. 8Servicio de Patología, Hospital de Pediatría Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina. 9Servicio de Pediatría, Hospital de Pediatría Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina. 10Servicio de Adolescencia, Hospital de Pediatría Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina
Background: 46,XX testicular/ovotesticular disorders of sexual development (T/OT DSD) are infrequent congenital conditions characterized by the presence of functional ovarian and testicular parenchyma or only testicular tissue in 46,XX individuals. Affected subjects present with different degrees of virilization of the external genitalia and development of Müllerian and Wolffian derivatives. Our knowledge about these conditions has been enlightened with the identification of molecular mechanisms involved in their pathogenesis and challenged with new reports on the risk of germ cell cancer.
Aim: To report the clinical presentation, characterization, and follow-up of a cohort of 30 patients with 46,XX T/OT DSD followed in one single institution.
Material and Methods: We retrospectively reviewed the registered data on the clinical presentation, biochemical findings, histological evaluation, and molecular studies.
Results: In this cohort 26 patients presented with atypical genitalia at birth that suggest DSD, 1 patient only distal hypospadias, and 3 patients typical male genitalia. Among the latter, the diagnosis was suspected in adolescence due to short stature, small testicular volume, and gynecomastia. Sex assignment was male in 21 and female in 9 patients without reports of discordant gender identity. Considering only the subjects with atypical genitalia, sex assignment in 17/26 patients was recommended before expert evaluation and without adequate studies. In 2 of these, congenital adrenal hyperplasia was incorrectly assumed. Multidisciplinary team evaluation in our institution regarding sex assignment was requested in 14 patients. Rectification of sex designation was recommended in 3 after a median of 22 days. Median external masculinization score was 8 (range 4-12). Müllerian structures were demonstrated in 19 patients by ultrasound or laparoscopic direct visualization. In all patients, biochemical evaluation revealed the presence of testicular tissue (AMH and/or Inhibin B above the female reference range, and/or hCG stimulated testosterone response). Gonadal samples reviewed showed coexistence of ovarian and testicular tissue as the most frequent finding (18/19). Gonadoblastoma was identified in 26% of the cases (5/19). Molecular studies allowed the identification of the molecular mechanism in 8 patients: presence of SRY gene was identified in 3, WT1 gene variations affecting the fourth zinc finger were detected in other 3, and 2 syndromic patients harbored complex chromosomal rearrangements.
Conclusion: 46,XX T/OT DSD is a highly heterogeneous group of conditions. Proper categorical diagnosis could rely in karyotype, clinical and biochemical findings before sex designation. Even though, we recommend programmed gonadal histologic evaluation to assess germ cell malignancy risk.
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