First reported case of Turner syndrome with Krabbe disease in a child: a case report

Turner syndrome (TS) is a congenital sex chromosome disorder. Krabbe disease (KD) is a rare autosomal recessive neurometabolic disorder. Here, we reported the first case of a child with both conditions.

A girl presenting as short stature was diagnosed with 45,X TS at the age of 9 years, showed significant height improvement with recombinant human growth hormone (rhGH) therapy, which was well-tolerated without drug-related adverse events. At age 14 years, she was hospitalized with nausea, abdominal pain, dizziness, fatigue, and weight loss, and was diagnosed with secondary adrenal insufficiency. Comprehensive evaluation ruled out TS and prior rhGH therapy as causes for secondary adrenal insufficiency, prompting consideration of other inherited metabolic disorders. Ultimately, the multidisciplinary team conducted an evaluation confirming KD through genetic testing and detection of below-normal galactocerebrosidase enzyme activity (40.6 nmol/17h/mg protein). Since her height improvement was satisfactory, rhGH therapy was temporarily discontinued. After evaluation, she was deemed ineligible for hematopoietic stem cell transplantation. We initiated hydrocortisone replacement therapy to address her adrenal insufficiency symptoms.

Overall, this case highlighted that secondary adrenal insufficiency could serve as an atypical clinical manifestation of KD. Furthermore, rhGH demonstrated satisfactory efficacy and safety in improving short stature in patient with 45,X TS.