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SLC16A2における新規欠失変異を有する2人の兄弟におけるMCT8欠損症

Andrea A Arcari¹, María Eugenia Rodríguez¹, Romina Armando²

¹Division of Endocrinology, Center for Endocrinological Research 'Dr. César Bergadá' (CEDIE), Ricardo Gutiérrez Children's Hospital, Buenos Aires, Argentina.

Case reports in genetics

|December 24, 2025

要旨

Background:

Monocarboxylate transporter 8 (MCT8) deficiency, also known as Allan-Herndon-Dudley syndrome, is a rare X-linked genetic disorder resulting from pathogenic mutations in the SLC16A2 gene. MCT8 deficiency impacts the transport of thyroid hormone (TH) throughout the body. Symptoms are highly heterogeneous and often include severe neurodevelopmental delay, hypotonia in the limbs and trunk, and low body weight.

Case Presentation:

This case report describes the diagnostic journey of two brothers born 1 year and 8 months apart to nonconsanguineous parents. Both exhibited severely limited motor development, quadriparesis, and an inability to sit independently or hold their head up. Despite their significant clinical presentations, the diagnoses were delayed: 12 years and 8 months for Case 1 and 8 years and 3 months for Case 2. Genetic testing revealed that both patients carry the same novel SLC16A2 mutation, 960_995del (p.Tyr321_Ala332del). Although they displayed key clinical features of MCT8 deficiency, the TH profile of Case 1 was inconclusive, lacking the characteristic sustained elevation of triiodothyronine (T3) typically associated with MCT8 deficiency.

Conclusions:

Findings from this case report highlight the need for greater awareness of this disorder and underscore the clinical heterogeneity of MCT8 deficiency.

キーワード:

アラン・ハーンドン・ダドリー症候群 MCT8欠損症 SLC16A2 脱髄遅延発達遅延低髄鞘形成

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