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[Hirsutism: a common problem; when to consider rare causes?].

Ned Tijdschr Geneeskd

January 2025

St. Antoniusziekenhuis, Nieuwegein. Afd. Interne Geneeskunde.

Excessive hair growth is a common and distressing complaint in women. It is imperative to differentiate excessive hair growth from hirsutism with possible other signs of virilization. Hirsutism is commonly attributed to polycystic ovary syndrome (PCOS).

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Article Synopsis
  • This study analyzes 37 ovarian Sertoli-Leydig cell tumors (SLCT) with a focus on their morphology, immunohistochemistry, and molecular features, categorizing them into well, moderately, and poorly differentiated tumors.
  • High levels of sex cord markers were found, along with variable expression of other markers, and notable mutations like DICER1 (54.5%) and FOXL2 (6%) were identified, suggesting important diagnostic and predictive implications.
  • Differences in mRNA expression profiles between DICER1 and non-DICER1 tumors highlight the distinct molecular characteristics of SLCTs, indicating that well-differentiated tumors could represent a unique subtype apart from the others.
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DICER1-Related Tumor Predisposition: Identification of At-risk Individuals and Recommended Surveillance Strategies.

Clin Cancer Res

December 2024

International Pleuropulmonary Blastoma/DICER1 Registry, Children's Minnesota, Minneapolis, Minnesota.

Article Synopsis
  • DICER1-related tumor predisposition is linked to an increased risk of both benign and malignant tumors, prompting the need for guidelines on testing and imaging for affected individuals.
  • A study enrolled participants from various registries and identified 713 individuals with germline DICER1 variants, leading to the diagnosis of multiple cases of pleuropulmonary blastoma (PPB) and ovarian Sertoli-Leydig cell tumors (SLCT).
  • The findings suggest that early imaging and surveillance can help detect PPB and may lower the risk of advanced disease, leading to recommendations for earlier ovarian surveillance beginning at the detection of DICER1 variants.
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An ovarian Sertoli-Leydig cell tumor is a rare type of sex cord-stromal tumor of the ovary. Typically, it presents as abdominal pain or androgenic manifestations in women in the second to third decade of life. While cases of ovarian Sertoli-Leydig cell tumor associated with increased levels of alpha-fetoprotein are rare, they are reported to be the most common alpha-fetoprotein-producing ovarian non-germ cell tumor.

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Characteristics and prognostic implications of a cohort of 50 Sertoli-Leydig cell tumors at a single center.

Int J Gynaecol Obstet

February 2025

National Clinical Research Center for Obstetric and Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Article Synopsis
  • - The study analyzed 50 cases of Sertoli-Leydig cell tumors (SLCTs) to understand their clinical features, treatment methods, and outcomes, finding that the majority of patients were under 45 years old.
  • - Results showed that 90% of patients achieved clinical remission, with the prognosis being generally favorable for early-stage tumors, while advanced and aggressive variants experienced worse outcomes.
  • - The research suggests that fertility-sparing surgery is a viable treatment option for patients with early-stage SLCTs, with some patients successfully giving birth to healthy babies post-treatment.
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