RECURRENT FEVER IN A 17-MONTH-OLD MALE BORN VIA ASSISTED REPRODUCTIVE TECHNOLOGY

Abstract

Introduction While assisted reproductive technology using third-party gamete donors has enabled many live births, the industry remains largely unregulated in testing for heritable diseases. We present the case of a 17-month-old male, born to a same-sex couple via oocyte donation, who developed recurrent fevers with new onset of generalized lymphadenopathy (LAD). Case Description A 17-month-old male presented with 7 months of intermittent fever ranging from 2 days to 2 months and new onset LAD, most prominent in the cervical node, with presumptive diagnosis of periodic fever adenitis pharyngitis aphthous ulcer (PFAPA) syndrome. However, the fevers were responsive to empiric oral antibiotics, which suggested an infectious rather than auto-inflammatory etiology. Dihydrorhodamine (DHR) flow cytometry revealed an oxidative burst pattern consistent with X-linked chronic granulomatous disease (X-CGD) confirmed by genetic testing. Cervical lymph node biopsy and culture grew Serratia marcescens. The patient was referred for bone marrow transplant. Discussion Regulations regarding gamete donation by the FDA solely encompass screening for infectious agents. The American Society for Reproductive Medicine has practice guidelines recommending a thorough family history and genetic testing as indicated. Yet, there remains considerable variability in screening practices among fertility centers. Expanded carrier screening is available for genetic disorders but this would increase the cost of screening and potentially shrink the available gamete donor pool. A solution balancing the rare but devastating outcome of having a child with a genetic disorder with the downside of expanded screening is needed to prevent such cases in the future.