A case of familial dysalbuminemic hyperthyroxinemia with growth retardation
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.
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