Januś, D.; Kujdowicz, M.; Kaleta, K.; Możdżeń, K.; Radliński, J.; Taczanowska-Niemczuk, A.; Kiszka-Wiłkojć, A.; Maślanka, M.; Górecki, W.; Starzyk, J.B. Ultrasound–Histopathological Presentation of Thyroid and Ovary Lesions in Adolescent Patients with DICER1 Syndrome: Case Reports and Literature Overview. Children2024, 11, 403.
Januś, D.; Kujdowicz, M.; Kaleta, K.; Możdżeń, K.; Radliński, J.; Taczanowska-Niemczuk, A.; Kiszka-Wiłkojć, A.; Maślanka, M.; Górecki, W.; Starzyk, J.B. Ultrasound–Histopathological Presentation of Thyroid and Ovary Lesions in Adolescent Patients with DICER1 Syndrome: Case Reports and Literature Overview. Children 2024, 11, 403.
Januś, D.; Kujdowicz, M.; Kaleta, K.; Możdżeń, K.; Radliński, J.; Taczanowska-Niemczuk, A.; Kiszka-Wiłkojć, A.; Maślanka, M.; Górecki, W.; Starzyk, J.B. Ultrasound–Histopathological Presentation of Thyroid and Ovary Lesions in Adolescent Patients with DICER1 Syndrome: Case Reports and Literature Overview. Children2024, 11, 403.
Januś, D.; Kujdowicz, M.; Kaleta, K.; Możdżeń, K.; Radliński, J.; Taczanowska-Niemczuk, A.; Kiszka-Wiłkojć, A.; Maślanka, M.; Górecki, W.; Starzyk, J.B. Ultrasound–Histopathological Presentation of Thyroid and Ovary Lesions in Adolescent Patients with DICER1 Syndrome: Case Reports and Literature Overview. Children 2024, 11, 403.
Abstract
Background:
DICER1, cancer predisposition syndrome (CPS), seems to escape timely diagnosis in pediatric patients.
Case report 1:
A 16-year-old female patient was referred to the endocrinology ward due to a large goiter. Her medical history indicated normal sexual maturation, with menarche occurring at 13.5 years. Over the past 2.5 years, she developed pronounced androgenic symptoms, including a deepened male voice, facial, back and neckline acne, hirsutism, and menstrual irregularities leading to secondary amenorrhoea.
A thyroid ultrasound identified a multinodular goiter with cystic-solid lesions containing calcifi-cations. An abdominal ultrasound identified a 5.7x6.9 cm solid mass in the right adnexal region, displacing the uterus to the left. Histopathological examination confirmed a Sertoli-Leydig cell tumor. The patient was subjected to total thyroidectomy. Histopathology revealed benign follicular cell-derived neoplasms. Thyroid follicular nodular disease was diagnosed bilaterally.
DNA analysis using NGS, confirmed by the Sanger method, revealed a pathogenic heterozygotic variant c.2953>T [p.Gln985*] in exon 18 of DICER1 gene.
Case report 2:
A 12-year-old male patient was admitted to the pediatric surgery unit due to a 33 ml goiter. A month prior to admission, the patient discovered a palpable nodule in his neck, accompanied by hoarseness. An ultrasound revealed a multinodular goiter. Molecular analysis revealed a pathogenic heterozygotic variant c.2782C>T [p.Gln928Ter] in exon 17 of DICER1 gene. Subsequently, a total thyroidectomy was performed, and histopathological examination revealed thyroid follicular nodu-lar disease bilaterally.
Conclusion:
Multinodular goiter, although rare in pediatric population, when accompanied by characteristic ultrasound and histopathological features, and by additional features such as androgen excess,
warrants exclusion of DICER1 syndrome.
Medicine and Pharmacology, Endocrinology and Metabolism
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.