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Peer-reviewedCC BY-NC-NDUrology case reports

SRY-negative 46,XX testicular disorder of sex development: Endocrine, histologic, and molecular characterization.

  • Eugene Chang-Yu Chen1
  • Rosanna Fiallo-Scharer2
  1. 1Medical College of Wisconsin, Milwaukee, WI, USA.
  2. 2Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
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Abstract

SRY-negative 46,XX testicular disorder of sex development (DSD) is rare and often genetically unresolved. We report a child with Prader IV virilization, bilateral palpable gonads, Müllerian regression, and a 46,XX karyotype. Neonatal mini-puberty demonstrated testosterone and anti-Müllerian hormone production, supporting Leydig and Sertoli cell function. Gonadal histology demonstrated seminiferous tubules containing Sertoli cells and occasional germ cells. SRY was not detected in peripheral blood or skin fibroblasts, and targeted genetic testing identified no explanatory pathogenic variant. This case highlights the complementary roles of endocrine, histologic, and molecular evaluation in SRY-negative 46,XX testicular DSD.

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Cite

BibTeXRIS
BibTeX
@article{chen2026srynegative,
  title = {{SRY-negative 46,XX testicular disorder of sex development: Endocrine, histologic, and molecular characterization.}},
  author = {Eugene Chang-Yu Chen and Rosanna Fiallo-Scharer},
  journal = {Urology case reports},
  year = {2026},
  month = oct,
  doi = {10.1016/j.eucr.2026.103645},
  url = {https://europepmc.org/article/MED/42927047},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - SRY-negative 46,XX testicular disorder of sex development: Endocrine, histologic, and molecular characterization.
AU  - Eugene Chang-Yu Chen
AU  - Rosanna Fiallo-Scharer
PY  - 2026
DA  - 2026/10/15
JO  - Urology case reports
DO  - 10.1016/j.eucr.2026.103645
UR  - https://europepmc.org/article/MED/42927047
AB  - SRY-negative 46,XX testicular disorder of sex development (DSD) is rare and often genetically unresolved. We report a child with Prader IV virilization, bilateral palpable gonads, Müllerian regression, and a 46,XX karyotype. Neonatal mini-puberty demonstrated testosterone and anti-Müllerian hormone production, supporting Leydig and Sertoli cell function. Gonadal histology demonstrated seminiferous tubules containing Sertoli cells and occasional germ cells. SRY was not detected in peripheral blood or skin fibroblasts, and targeted genetic testing identified no explanatory pathogenic variant. This case highlights the complementary roles of endocrine, histologic, and molecular evaluation in SRY-negative 46,XX testicular DSD.
SN  - 2214-4420
ER  -