Case reports in endocrinology · 2026
High-Risk Pregnancy Associated With Maternal Hypoparathyroidism and Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
СтатьяНазвание и аннотация: Перевод в очереди
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Huguet Isabel, Sevillano Collantes Cristina, Pérez-Olivares Martín Laura, Martínez Díaz-Guerra Guillermo
Аннотация
PURPOSE: Fatty acid oxidation disorders are inherited metabolic errors that result in deficient energy production during prolonged fasting and catabolic stress. Few cases of hypoparathyroidism (HypoPT) related to medium-chain acyl-CoA dehydrogenase (MCAD) deficiency have been reported. We present the perinatal management of a female patient previously diagnosed with MCAD deficiency due to a homozygous G985A mutation and HypoPT.
CASE PRESENTATION: A 24-year-old woman with MCAD deficiency and HypoPT presented with stage IV intrauterine growth restriction (IUGR) and preeclampsia at 28 weeks of gestation, requiring an emergency cesarean section. The fetus had been diagnosed with aortic arch hypoplasia and ventricular septal defect. Despite multidisciplinary management, the infant died at 8 months, with the underlying cardiopathy considered the most likely cause. This case highlights the challenges of managing coexisting metabolic and endocrine disorders during pregnancy.
CONCLUSIONS: In this case, although MCAD deficiency may have contributed, HypoPT and its renal complications likely played a major role in adverse maternal and fetal outcomes. To the best of our knowledge, this is the first published case describing the coexistence of MCAD deficiency and HypoPT during pregnancy.
CASE PRESENTATION: A 24-year-old woman with MCAD deficiency and HypoPT presented with stage IV intrauterine growth restriction (IUGR) and preeclampsia at 28 weeks of gestation, requiring an emergency cesarean section. The fetus had been diagnosed with aortic arch hypoplasia and ventricular septal defect. Despite multidisciplinary management, the infant died at 8 months, with the underlying cardiopathy considered the most likely cause. This case highlights the challenges of managing coexisting metabolic and endocrine disorders during pregnancy.
CONCLUSIONS: In this case, although MCAD deficiency may have contributed, HypoPT and its renal complications likely played a major role in adverse maternal and fetal outcomes. To the best of our knowledge, this is the first published case describing the coexistence of MCAD deficiency and HypoPT during pregnancy.