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Fetal and Pediatric Pathology Volume 43, 2024 - Issue 2
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Case Report

Early Diagnosis of 46,XX Testicular Difference of Sexual Development: Unusual Presentation with Increased Nuchal Translucency

Miguel Saraivaa Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de Santo António, Porto, PortugalCorrespondence[email protected]
View further author information
,
Vera M. F. Santosb Department of Medical Genetics, Centro Hospitalar Universitário de Coimbra, Coimbra, PortugalView further author information
,
Lina Ramosb Department of Medical Genetics, Centro Hospitalar Universitário de Coimbra, Coimbra, PortugalView further author information
,
Fabiana Ramosb Department of Medical Genetics, Centro Hospitalar Universitário de Coimbra, Coimbra, PortugalView further author information
,
Joana Serra-Caetanoc Pediatric Endocrinology, Diabetes and Growth Unit, Centro Hospitalar Universitário de Coimbra, Coimbra, PortugalView further author information
,
Rita Cardosoc Pediatric Endocrinology, Diabetes and Growth Unit, Centro Hospitalar Universitário de Coimbra, Coimbra, PortugalView further author information
,
Isabel Dinisc Pediatric Endocrinology, Diabetes and Growth Unit, Centro Hospitalar Universitário de Coimbra, Coimbra, PortugalView further author information
&
Alice Mirantec Pediatric Endocrinology, Diabetes and Growth Unit, Centro Hospitalar Universitário de Coimbra, Coimbra, PortugalView further author information
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Pages 176-181 | Received 29 Sep 2023, Accepted 18 Oct 2023, Published online: 30 Oct 2023

References

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  • Hughes IA, Houk C, Ahmed SF, Lee PA, Society LWPE. Consensus statement on management of intersex disorders. J Pediatr Urol. 2006;2(3):148–62. doi:10.1016/j.jpurol.2006.03.004.
  • Delachapelle A, Hortling H, Niemi M, Wennstroem J. XX sex chromosomes in a human male: first case. Acta Med Scand. 1964;175(s412):SUPPL 412:25–412:28. doi:10.1111/j.0954-6820.1964.tb04630.x.
  • Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, McElreavey K, New MI. Clinical, hormonal and cytogenetic evaluation of 46, XX males and review of the literature. J Pediatr Endocrinol Metab. 2005;18(8):739–48. doi:10.1515/jpem.2005.18.8.739.
  • Terribile M, Stizzo M, Manfredi C, Quattrone C, Bottone F, Giordano DR, Bellastella G, Arcaniolo D, De Sio M. 46, XX testicular disorder of sex development (DSD): a case report and systematic review. Medicina. 2019;55(7):371. doi:10.3390/medicina55070371.
  • Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46, XX male syndrome, compared with 47, XXY Klinefelter patients. J Clin Endocrinol Metab. 2007;92(9):3458–65. doi:10.1210/jc.2007-0447.
  • Chen T, Tian L, Wu F, Xuan X, Ma G, Tang R, Lu J. Clinical and genetic analysis in males with 46, XX disorders of sex development: a reproductive centre experience of 144 cases. Andrologia. 2019;51(4):e13232. doi:10.1111/and.13232.
  • De Domenico R, Faraci M, Hyseni E, Di Prima FA, Valenti O, Monte S, Giorgio E, Renda E. Increased nuchal traslucency in normal karyotype fetuses. Journal of Prenatal Medicine. 2011;5(2):23–6.
  • Manuel M, Katayama PK, Jones HW. The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am J Obstet Gynecol. 1976;124(3):293–300. doi:10.1016/0002-9378(76)90160-5.
  • Carcavilla A, Alonso M, Ezquieta B, García-Galloway E, Barrio R, Nistal M. An XX male with an intratubular undifferentiated germ cell neoplasia. Fertil Steril. 2008;90(5)2005. :e3–e5. doi:10.1016/j.fertnstert.2008.07.001.
  • Osaka A, Ide H, Matsuoka K, Iwahata T, Kobori Y, Ban S, Okada H, Saito K. SRY-positive 46, XX testicular disorder of sexual development with Leydig cell tumor. Am J Mens Health. 2020;14(5):1557988320970071. doi:10.1177/1557988320970071.

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