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Purpose: Thyroid dysfunction in patients with Klinefelter syndrome (KS) remains an unresolved issue. Although low free thyroxine (FT4) levels within the normal range and normal thyroid stimulating hormone (TSH) levels have been reported, there is currently no data on nodular thyroid disease in this population. This study aims to evaluate the results of thyroid ultrasound (US) examinations in KS patients compared with healthy controls.
Methods: A cohort of 122 KS and 85 age-matched healthy male controls underwent thyroid US screening and thyroid hormone analysis. According to US risk-stratification systems, nodules ≥1 cm were examined by fine needle aspiration (FNA).
Results: Thyroid US detected nodular thyroid disease in 31% of KS compared to 13% of controls. No statistical differences in the maximum diameter of the largest nodules and in moderate and highly suspicious nodules were found between patients and the control group. Six KS patients and two controls with nodules underwent FNA and were confirmed as cytologically benign. In line with published data, FT4 levels were found significantly near the lower limit of the normal range compared to controls, with no differences in TSH values between the two groups. Hashimoto's thyroiditis was diagnosed in 9% of patients with KS.
Conclusions: We observed a significantly higher prevalence of nodular thyroid disease in KS compared to the control group. The increase in nodular thyroid disease is likely linked to low levels of FT4, inappropriate TSH secretion, and/or genetic instability.
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http://dx.doi.org/10.1007/s12020-023-03387-7 | DOI Listing |
Endocr Pathol
September 2025
Department of Pathology, Medical Faculty, Institute of Molecular Pathology and Immunology (IPATIMUP), i3S-Institute for Research & Innovation in Health, University of Porto, Porto, 4200-135, Portugal.
Thyroid lesions associated with DICER1 syndrome include multifocal hyperplastic and benign neoplastic proliferations (follicular nodular disease) with characteristic macrofollicular and/or intrafollicular centripetal papillary growth patterns, frequently associated with atrophic and involutional changes. There are also well-differentiated thyroid carcinomas showing intermediate-type nuclei, sometimes combining high-grade areas (tumor-in-tumor pattern) and poorly differentiated carcinomas. Here, for the first time, we describe an encapsulated follicular cell thyroid tumor showing a mixed follicular and morular growth pattern, which presented in an 11-year-old girl with follicular nodular disease and a constitutional (germline) DICER1 p.
View Article and Find Full Text PDFNiger J Clin Pract
August 2025
Department of Nuclear Medicine, Etlik City Hospital, Ankara, Turkey.
Background: This study compared the dimensions of the thyroid gland measured by the scintigraphic method with those measured by the ultrasonographic method. Additionally, the correlation between the technetium uptake level of the thyroid gland and the thyroid-stimulating hormone (TSH) values of the patient was investigated.
Aim: The aim of this study was to measure the uptake values and scintigraphic dimensions of the thyroid gland by using Technetium 99m pertechnetate and to investigate the relationship between these values in euthyroid and hyperthyroid states.
Recenti Prog Med
September 2025
Dipartimento di Medicina, chirurgia e odontoiatria, Università di Salerno, Baronissi (Salerno).
Nodular goiter is a very frequent occurrence that rarely requires surgical treatments. Only a few of these nodules are the site of carcinoma which requires surgery. It is therefore necessary to precisely determine the nature of the nodule.
View Article and Find Full Text PDFEndocr Pract
August 2025
Department of Internal Medicine and Therapeutics, University of Pavia, 27100 Pavia, Italy; Istituti Clinici Scientifici Maugeri IRCCS, Unit of Internal Medicine and Endocrinology, Laboratory for Endocrine Disruptors, 27100 Pavia, Italy. Electronic address:
Objectives: Thyroid ultrasound (US) is the cornerstone for diagnosing nodular thyroid disease, yet many US exams are prompted by nonspecific local symptoms like dysphagia or a palpable neck mass. The clinical utility of such referrals remains debated.
Methods: This multicenter retrospective study analyzed 614 patients diagnosed with thyroid nodules (TNs) via US from two endocrinology centers in Italy between December 2021 and October 2022.
Eur Thyroid J
August 2025
Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, USA.
Objective: To investigate the prevalence of endogenous normal thyroid function three years after hemithyroidectomy for low-risk differentiated thyroid cancer if a postoperative thyroid stimulating hormone increase up to 4 mIU/L is accepted.
Method: A retrospective review of a total of 162 Eastern Danish patients was conducted. Patients were initially followed-up without levothyroxine treatment after hemithyroidectomy for differentiated thyroid cancer if thyroid stimulating hormone was below 4 mIU/L, in accordance with the Danish treatment guideline.