A case of familial dysalbuminemic hyperthyroxinemia with growth retardation
10.3760/cma.j.cn101070-20240314-00157
- VernacularTitle:伴生长迟缓的家族性白蛋白异常性高甲状腺素血症1例
- Author:
Haixia CHANG
1
;
Zhihui LIU
;
Jinfang LYU
;
Qin LI
;
Xia WANG
Author Information
1. 河北省儿童医院儿童保健科，石家庄 050031
- Keywords:
Thyroxine;
Growth retardation;
Familial dysalbuminemic hyperthyroxinemia;
Albumin gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(10):785-788
- CountryChina
- Language:Chinese
-
Abstract:
A retrospective analysis was made on clinical data of a case of familial dysalbuminemic hyperthyroxinemia (FDH) treated at Hebei Children′s Hospital in August 2021.The patient, female, 4 years and 2 months old, was diagnosed with growth retardation.Genetic sequencing of the child and her immediate family revealed a heterozygous mutation, c.725G>A(p.R242H) in exon 7 of the albumin gene, which confirmed the diagnosis of FDH.The growth and development of the girl were monitored regularly.Early identification and diagnosis of FDH can prevent misdiagnosis or improper antithyroid medication from affecting children′s growth and development, and growth hormone therapy is effective for children with FDH who are slow growing.
