Case Study of SBP2 Deficiency with Thyroid Hormone Data

This dataset contains supplementary material for a published medical case report on a rare genetic disorder affecting selenoprotein synthesis. The case details a 13-year-6-month-old female patient with a homozygous SECISBP2 gene mutation, presenting with specific thyroid hormone abnormalities, low selenium, and developmental delays. The material, published under CC-BY-4.0 by Karger Publishers, was last updated in March 2026.

Use Cases

• Analyzing the correlation between the c.358C>T SECISBP2 mutation and specific thyroid function test patterns (elevated free T4, low free T3, normal TSH).
• Studying the clinical presentation of SBP2 deficiency, including biochemical markers like serum selenium levels and associated neurological features.
• Serving as a reference case for diagnosing patients with similar discordant thyroid function tests and developmental delays.

Strengths

• Provides detailed, quantified clinical measurements including free T4 (25.5 ng/L), TSH (1.2 mIU/L), free T3 (2.3 ng/L), and serum selenium (14.37 µg/L).
• Includes a confirmed genetic diagnosis with a specific pathogenic variant (c.358C>T, p.Arg120Ter) in the SECISBP2 gene.
• Dataset is openly shared under a permissive CC-BY-4.0 license, facilitating reuse.

Limitations

• The dataset consists of a single case study, limiting statistical power and generalizability.
• The exact data structure (e.g., column names, row count) is not described across any platform, making programmatic analysis difficult.
• Sources conflict on row count, with one listing 1291632 (likely a file size in bytes misinterpreted as rows) and others listing 'None' or 'unknown'.

Provenance

Source

Karger Publishers, from a published medical case report.

Collection Method

Clinical case documentation including laboratory tests and genetic analysis.

Time Range

Covers a single patient case presentation.

Freshness

2026-03-25 06:55:16

Geography

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