A Case of Familial Abnormal Albumin Hyperthyroxinemia in a Child

Zhao W, Pi Y*, Zhang Y, Li Y and Zhang H

Department of Pediatrics, The Second Hospital of Hebei Medical University, China

^*Correspondance to: Yalei Pi 

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Abstract:

A 4-year-old girl was admitted to the Department of Pediatrics of the Second Hospital of Hebei Medical University in July 2021 because of “elevated FT4 on physical examination.” Repeated laboratory examinations and genetic testing identified the presence of a heterozygous mutation, c.725G>A (P.R218H), in exon 7 of the Albumin (ALB) gene, and the diagnosis of familial abnormal albumin hyperthyroxinemia was confirmed. The patient is currently in a good general condition and does not require pharmacologic intervention. Because cases of familial abnormal albumin hyperthyroxinemia are rarely reported in China, it is important to raise clinicians’ awareness to increase the diagnosis of this disease.

Keywords:

Familial abnormal albumin hyperthyroxinemia; Albumin gene; Thyroid binding protein

Cite the Article:

Zhao W, Pi Y, Zhang Y, Li Y, Zhang H. A Case of Familial Abnormal Albumin Hyperthyroxinemia in a Child. Ann Clin Case Rep. 2024; 9: 2608.