Management of hypoparathyroidism during pregnancy following late maternal diagnosis of DiGeorge syndrome: a case report.

backgroundHypoparathyroidism during pregnancy is an uncommon condition, particularly in nonsurgical patients. DiGeorge syndrome (22q11.2 deletion syndrome), a common microdeletion disorder, presents with highly variable features that often delay diagnosis until adulthood. In the absence of hallmark findings such as congenital heart defects or dysmorphic features, diagnosis can be missed or delayed. This case emphasizes the importance of a systematic approach for clinicians facing low calcium levels during pregnancy. Furthermore, it provides valuable guidance for managing and monitoring hypocalcemia resulting from primary hypoparathyroidism during pregnancy. CASE: We describe a 27-year-old Hispanic woman who presented in the third trimester with chronic, asymptomatic hypocalcemia. Her history included multiple unexplained second-trimester pregnancy losses. She had no prior neck surgery, autoimmune disease, or typical symptoms of hypocalcemia. Biochemical evaluation revealed low serum calcium and suppressed parathyroid hormone levels, consistent with primary hypoparathyroidism. Genetic testing confirmed a 22q11.2 microdeletion, establishing the diagnosis of DiGeorge syndrome. She was treated with moderate-dose cholecalciferol and oral calcium supplements. Activated vitamin D analogues were not needed, as endogenous 1,25-dihydroxyvitamin D levels were adequate and calcium levels remained stable with conservative therapy. With close biochemical monitoring, maternal calcium levels remained within the target range, and she delivered a healthy infant with normal neonatal calcium. However, after stopping supplements postpartum, she developed biochemical hypocalcemia and was lost to follow-up, although she remained asymptomatic.

conclusionThis case highlights the importance of evaluating persistent hypocalcemia during pregnancy, even in the absence of clinical symptoms, and considering genetic causes when acquired etiologies are excluded. The postpartum period requires continued monitoring, as hormonal shifts can unmask calcium imbalance. Early recognition of DiGeorge syndrome carries implications for reproductive counseling, neonatal screening, and long-term family planning.