Silent calcium deficiency during pregnancy leads to DiGeorge diagnosis
Woman diagnosed with genetic disorder after years of hidden symptoms
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A 27-year-old woman’s “silent” calcium deficiency due to hypoparathyroidism during pregnancy led to the surprise diagnosis of DiGeorge syndrome, a genetic disorder that had gone undetected for nearly three decades. Despite having no physical symptoms of low calcium, the woman’s persistent blood test results allowed doctors to catch the underlying condition in time to manage her pregnancy safely using simple oral supplements.
The case underscores a critical lesson for maternal health: even when a patient feels perfectly fine, persistent laboratory abnormalities like hypocalcemia (low calcium) require a deep dive into potential genetic causes.
“This case highlights the importance of evaluating persistent hypocalcemia during pregnancy, even in the absence of clinical symptoms, and considering genetic causes,” researchers wrote in “Management of hypoparathyroidism during pregnancy following late maternal diagnosis of DiGeorge syndrome: a case report,” which was published in the Journal of Medical Case Reports.
Understanding hypoparathyroidism and calcium balance
Hypoparathyroidism occurs when the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH), which normally helps maintain calcium and phosphorus balance in the body. It is uncommon in pregnancy, and there are no clear treatment guidelines, particularly because most published cases involve women who previously had neck surgery.
In the report, the researchers describe the case of a 27-year-old Hispanic woman who was referred to Jacobi Medical Center in the Bronx, New York, at 32 weeks of pregnancy for persistent hypocalcemia. She had experienced three second-trimester miscarriages over two years. Her hypocalcemia was silent, with no symptoms such as cramps or tingling, and no history of seizures or heart problems.
Her physical examination was normal, with no neck scars or signs of hypocalcemia. Blood tests repeatedly showed low calcium, even after correcting for albumin, the most abundant protein in blood. Further blood testing showed low PTH, confirming primary hypoparathyroidism. This means hypoparathyroidism was caused by a problem within the parathyroid glands.
The woman was also born with only one kidney and had a history of learning difficulties and anxiety. This led doctors to suspect DiGeorge syndrome, also called 22q11.2 deletion syndrome. Genetic testing confirmed the loss of a small piece of chromosome 22.
DiGeorge syndrome affects about 1 in 3,000 to 6,000 births, but symptoms can be mild, which often delays diagnosis. Hypoparathyroidism is common in these patients because the parathyroid glands are underdeveloped.
The patient was treated with oral calcium and vitamin D3, which helps the body absorb calcium from food. Activated vitamin D was not needed because her body was already producing enough of the active form. Her calcium stayed in the target range. She delivered a healthy baby by cesarean section, and the newborn’s calcium levels were within normal.
After delivery, she was advised to continue supplements, but she stopped them. This led to low calcium, but she was lost to follow-up, “raising concerns about long-term stability and the need for ongoing management,” the investigators noted.
This case highlights the need for continued follow-up, as hormonal changes after birth can lead to calcium imbalances. “Calcium requirements increase during pregnancy,” the researchers wrote. “Regular monitoring and dosage adjustments are essential to prevent complications.”
“Early recognition of DiGeorge syndrome carries implications for reproductive counseling, neonatal screening, and long-term family planning,” they concluded.
