EXACERBATION OF CYSTIC FIBROSIS IN A PREGNANT FEMALE TO MALE AFFIRMED PATIENT: A CASE REPORT

SESSION TITLE: Genetic and Developmental Disorders Case Report Posters 3 SESSION TYPE: Case Report Posters PRESENTED ON: 10/09/2023 12:00 pm - 12:45 pm INTRODUCTION: Cystic fibrosis is a genetic disease with pulmonary and extrapulmonary manifestations. With advent of novel therapies, there is an increase in median survival of patients with cystic fibrosis. This increase in lifespan is associated with developing understanding of issues around puberty, fertility, pregnancy and gender affirmation therapy in patients with cystic fibrosis. We present a unique case of exacerbation of cystic fibrosis in a pregnant male transgender patient. CASE PRESENTATION: Our patient has a history of deltaF508 homozygous cystic fibrosis on elexacaftor/tezacaftor/ivacaftor and female to male gender affirmation along with non-compliance of testosterone prior to pregnancy and 19-week pregnancy. He presented with 2-week history of cough, shortness of breath and increased sputum production. He was noticed to have significantly reduced forced expiratory volume in 1 sec (FEV1) of 1.09 liters (baseline 1.37 liters). Patient was admitted for exacerbation of cystic fibrosis. His sputum culture grew pan-sensitive acinetobacter berezinia and hemophilus influenzae and he was treated for IV meropenem. Considering history of pancreatic insufficiency, patient was deemed to be at high risk for gestational diabetes and underwent oral glucose tolerance testing. Imaging was avoided to prevent unnecessary radiation exposure to fetus. Vitamin B6 was used to provide symptomatic relief for nausea. Patient was given enoxaparin for deep venous thrombosis prophylaxis. He stayed in hospital for 14 days for intravenous (IV) antibiotic completion and his elexacaftor/tezacaftor/ivacaftor was continued during hospitalization. Since pulmonary function testing (PFT) accounts for gender of patient, it had to be considered while interpretation of results. His PFTs on discharge show FEV1 of 1.64 L and fetus was alive and healthy. DISCUSSION: Longevity in life expectancy of cystic fibrosis patients due to the availability of protein modulator therapies has led to increase in age- and treatment- related complications and an increase in complexity of care. Sex differences exist in morbidity and mortality of cystic fibrosis (CF) population; however, little is known about the impact of gender affirmation therapy and pregnancy in cystic fibrosis patients. Gender diverse youth with cystic fibrosis have unique healthcare needs. CONCLUSIONS: More research is required to understand health disparities in this population as well as aspects of gender-affirming care including hormonal therapy in setting of pregnancy in cystic fibrosis patients. REFERENCE #1: McBennett KA, Davis PB, Konstan MW. Increasing life expectancy in cystic fibrosis: Advances and challenges. Pediatr Pulmonol. 2022;57 Suppl 1(Suppl 1):S5-S12. doi:10.1002/PPUL.25733 REFERENCE #2: West NE, Kazmerski TM, Taylor-Cousar JL, et al. Optimizing sexual and reproductive health across the lifespan in people with cystic fibrosis. Pediatr Pulmonol. 2022;57 Suppl 1(Suppl 1):S89-S100. doi:10.1002/PPUL.25703 REFERENCE #3: Kidd KM, Sequeira GM, Voss R V., et al. Caring for gender diverse youth with cystic fibrosis. J Cyst Fibros. 2020;19(6):1018-1020. doi:10.1016/J.JCF.2020.03.003 DISCLOSURES: No relevant relationships by Hafsa Yasin Rana No relevant relationships by Jamie Sturgill No relevant relationships by Usama Talib No relevant relationships by Haris Zia