DNA LIGASE IV SYNDROME: A RARE CAUSE OF GROWTH FAILURE & HYPOGONADISM.

OBJECTIVE

DNA ligase IV syndrome is a rare genetic disorder characterized by pronounced radiosensitivity, growth failure, pancytopenia, hypogonadism, and immunodeficiency. Here, we describe a unique case of DNA ligase IV syndrome diagnosed in adulthood and review the endocrine manifestations of this rare disorder.

METHODS

We present detailed clinical, laboratory, and exam findings and review the relevant literature.

RESULTS

This patient initially presented in childhood with microcephaly, growth failure, and mild pancytopenia. At age 18, she developed secondary amenorrhea, with labs revealing hypergonadotropic hypogonadism. She was initially suspected to have Turner syndrome, but karyotype testing was normal. At age 34, genetic testing ultimately confirmed the diagnosis of DNA ligase IV syndrome.

CONCLUSION

Severe growth failure and hypogonadism are important endocrine clues to the diagnosis of DNA ligase IV syndrome. The increased availability of genetic testing and whole-exome sequencing may allow for definitive diagnosis in patients that previously went unrecognized.