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Computed tomography-based radiological gynecomastia in SBMA as an independent differential diagnostic biomarker: a retrospective study.

Neurol Sci

October 2024

Department of Neurology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Hoguk-ro 807, Buk-gu, Daegu, Republic of Korea.

Article Synopsis
  • The study aimed to differentiate between spinal bulbar muscular atrophy (SBMA) and amyotrophic lateral sclerosis (ALS) using chest CT imaging, focusing on the presence and characteristics of gynecomastia.
  • A total of 15 CT images from SBMA patients, 41 from ALS patients, and 29 from a control group were analyzed, revealing significant differences in the diameter of glandular tissue associated with gynecomastia between the groups.
  • The findings indicate that SBMA patients have larger glandular tissue diameters and a higher prevalence of diffuse morphology compared to ALS and control groups, suggesting that CT imaging can help differentiate SBMA from ALS effectively.
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Background: Kennedy disease (KD) is a slowly progressive lower motor neuron degenerative disease. The prevalence of KD is unknown in India.

Aim: To describe the phenotypic and laboratory features of an Indian cohort of KD patients.

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Spinal and bulbar muscular atrophy, namely Kennedy disease, is a rare progressive neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the androgen receptor gene on the X chromosome. We assessed the clinical history, laboratory findings, functional scales and electrophysiological data, as well as the levels of luteinizing hormone, follicle-stimulating hormone and testosterone, in 157 Korean patients with genetically confirmed spinal and bulbar muscular atrophy (mean age at data collection = 56.9 years; range = 33-83 years).

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Rationale And Objectives: To evaluate the prevalence, size, and characteristics of gynecomastia on thoracic computed tomography (CT) in patients with spinal and bulbar muscular atrophy (SBMA) or amyotrophic lateral sclerosis (ALS), compared to those of patients with myasthenia gravis (as controls).

Materials And Methods: A total of 189 male patients (SBMA [n = 15]; ALS [n = 76]; control [n = 98]) who underwent thoracic computed tomography were included. The size of breast glandular tissue diameters, and characteristic of CT-depicted gynecomastia were compared.

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Rationale: Kennedy disease (KD) is also known as spinal bulbar muscular dystrophy. As KD has similar symptoms with most neuromuscular diseases, so it is difficult to make a rapid diagnosis clinically.

Patient Concerns: We report a case of a 43-year-old male with progressive limb proximal weakness without family history.

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