CHARGE syndrome with hypothyroidism: a case report

Background: CHARGE syndrome (CS) is a rare genetic disorder caused by mutations in the CHD7 gene. CS is characterized by a spectrum of disorders, including coloboma, heart malformations, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities and/or deafness. Additionally, some patients with CS may have some type of endocrine disorder, which affects their development.

Case Description: We report the case of a 6-month-old female infant diagnosed with CS and congenital hypothyroidism who presented with various features, including a crooked smile, anemia, auricular deformity and auditory abnormalities of the right ear, atrial septal defect and patent ductus arteriosus, and severe growth retardation. Whole-exome sequencing and mitochondrial genome sequencing showed a heterozygous mutation of the CHD7 gene (c.2377-1G>A [NM_017780.4]) and a heterozygous DUOXA2 gene mutation (c.413dup[p.Tyr138Ter]). The patient was provided oral supplementation of levothyroxine, rehabilitation training, and feeding with a high-energy density formula and complementary foods. Furosemide, hydrochlorothiazide, and digoxin tablets were also administered for pulmonary hypertension. When the patient was 14 months old, she showed improved growth, and language development was better than before, but these continued to be delayed compared to healthy peers..

Conclusions: This case highlights the importance of an early genetic diagnosis and intervention not only for CS but also for other endocrine disorders. Additionally, as a multi-system disease, CS requires the efforts of doctors from multiple disciplines for its successful treatment.