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Case Reports
. 2025 Aug;51(8):e70027.
doi: 10.1111/jog.70027.

Sertoli cell tumor associated with ovarian sex cord tumor with annular tubules in a patient with 46 XY disorder of sex development and 9p24.3 deletion, case report

Tabatha Petrillo  1 , Christian Battipaglia  2   3 , Elisa Semprini  2 , Cinzia Baldessari  4 , Marta Pirola  4 , Olga Calabrese  5 , Antonino Farulla  2 , Giliana Ternelli  2 , Albino Eccher  6 , Laura Botticelli  6 , Alessandro D Genazzani  2
Affiliations
Case Reports

Sertoli cell tumor associated with ovarian sex cord tumor with annular tubules in a patient with 46 XY disorder of sex development and 9p24.3 deletion, case report

Tabatha Petrillo et al. J Obstet Gynaecol Res. 2025 Aug.

Abstract

We report a rare case involving a 22-year-old phenotypically female patient who presented to our care with primary amenorrhea and spontaneous breast development. Hormonal analysis indicated hypergonadotropic hypogonadism, and imaging revealed a hypoplastic uterus and calcified ovaries. Karyotyping was 46, XY and the presence of the SRY gene was confirmed. The patient underwent laparoscopic bilateral salpingo-oophorectomy due to the high risk of malignancy development. Histopathological analysis revealed bilateral Sertoli cell tumors and a sex cord tumor with annular tubules in the right gonad. Next generation sequencing genetic testing identified a 1.24 Mb deletion on chromosome 9p24.3, which included the DMRT1, DMRT2, and DMRT3 genes, as well as a partial deletion of KANK1. Hormonal replacement therapy was not initiated due to the potential risk of tumor recurrence, and follow-up imaging was scheduled every 6 months for the first 2 years and then annually. No recurrence was observed at 24 months.

Keywords: 9p24.3 deletion; Sertoli cell tumor; disorder of sex development; primary amenorrhea; sex cord tumor with annular tubules.

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Conflict of interest statement

The authors declare no conflict of interests for this article.

Figures

FIGURE 1
FIGURE 1
External genitalia at clinical examination showed a normal female appearance without signs of virilization or ambiguity. Hypoestrogenic features were present.
FIGURE 2
FIGURE 2
(a) Pelvic ultrasound showing a hypoplastic uterus measuring 42 × 18 × 29 mm with thin endometrium (on the left) and the left adnexa revealing a nonfunctional ovary with hyperechoic foci suggestive of calcifications (on the right). (b) 1. Laparoscopic view of the uterus and adnexa; 2. right adnexa; 3. left adnexa.
FIGURE 3
FIGURE 3
Macroscopic aspect of (a) right adnexa and (b) left adnexa; histopathological and immunohistochemical features of the right gonad. (c) Hematoxylin and eosin (H&E) stain displaying fibromatous stroma with calcifications and focal nests of tubular structures; (d) H&E stain highlighting well‐defined annular tubules, characteristic of sex cord tumor with annular tubules (SCTAT); (e) 40× microscopic enlargement showing features of Sertoli cell tumor; (f) 40× microscopic enlargement highlighting ring‐shaped tubules of SCTAT; (g) immunohistochemical staining for inhibin showing cytoplasmic positivity in sex cord‐stromal cells; (h) Calretinin immunostaining with diffuse strong positivity in tumor cells, supporting the diagnosis of a sex cord‐stromal tumor.
See this image and copyright information in PMC

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