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Introduction <p>Cowden syndrome (CS) is a&#xa0;tumor predisposition syndrome caused by mutations of the <i>PTEN</i> gene associated with malignancies of the breast, thyroid, endometrium, colon, and kidney. Ovarian tumors are rare, particularly in small children.</p> Case presentation <p>We report on a&#xa0;4.3-year-old girl first seen in an external hospital who presented with premature thelarche, pubarche, accelerated growth, advanced bone age, and slight clitoral hypertrophy. Testosterone (1.58 ng/ml), androstenedione (1.24 ng/ml), and estradiol (18 pg/ml) were markedly elevated and gonadotropins suppressed. Imaging studies were inconspicuous except for increased left ovarian size. Throughout follow-up over nine months which fell within the COVID-19-pandemic and associated restrictions due to several lockdowns, hormone levels dropped continuously to prepubertal levels. After contacting our clinic for expert advice, additional MRI-imaging of the pelvis was arranged, which showed a&#xa0;solid mass in the left adnexal area that was surgically removed. Histologically, a&#xa0;mixed germ cell tumor with dysgerminoma and mature teratoma components was found. Eventually, the presence of other clinical abnormalities such as lipoma, keratosis pilaris, and macrocephaly led to the suspicion of CS, which was verified genetically.</p> Conclusion <p>We observed an initially hormonally active mixed germ cell tumor of the ovary with dysgerminoma and mature teratoma parts in a&#xa0;young girl with CS gradually losing hormonal activity over time. We hypothesize that an originally present gonadoblastoma burnt out and was overgrown by dysgerminoma.</p>

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„Burn-out“ eines hormonaktiven, gemischten Keimzelltumors bei einem 4-jährigen Mädchen mit Cowden-Syndrom

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  • 发表日期：

    2026年2月18日

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  • Daniela Habacht,
  • Vera Metzler,
  • Heidrun Boztug,
  • Leo Kager,
  • Anke Scharrer,
  • Kaan Boztug,
  • Stefan Riedl

摘要

Introduction

Cowden syndrome (CS) is a tumor predisposition syndrome caused by mutations of the PTEN gene associated with malignancies of the breast, thyroid, endometrium, colon, and kidney. Ovarian tumors are rare, particularly in small children.

Case presentation

We report on a 4.3-year-old girl first seen in an external hospital who presented with premature thelarche, pubarche, accelerated growth, advanced bone age, and slight clitoral hypertrophy. Testosterone (1.58 ng/ml), androstenedione (1.24 ng/ml), and estradiol (18 pg/ml) were markedly elevated and gonadotropins suppressed. Imaging studies were inconspicuous except for increased left ovarian size. Throughout follow-up over nine months which fell within the COVID-19-pandemic and associated restrictions due to several lockdowns, hormone levels dropped continuously to prepubertal levels. After contacting our clinic for expert advice, additional MRI-imaging of the pelvis was arranged, which showed a solid mass in the left adnexal area that was surgically removed. Histologically, a mixed germ cell tumor with dysgerminoma and mature teratoma components was found. Eventually, the presence of other clinical abnormalities such as lipoma, keratosis pilaris, and macrocephaly led to the suspicion of CS, which was verified genetically.

Conclusion

We observed an initially hormonally active mixed germ cell tumor of the ovary with dysgerminoma and mature teratoma parts in a young girl with CS gradually losing hormonal activity over time. We hypothesize that an originally present gonadoblastoma burnt out and was overgrown by dysgerminoma.