Endocrine Abstracts

Di George syndrome is, in 93% of cases, the result of spontaneous mutations within the chromosome 22. Environmental factors may affect its occurrence. Phenotypic characteristics of Di George syndrome in children of alcohol-abusing or treated with izotretionin mothers were described. The case of a baby with Di George sndrome born to a woman with symptomatic hyperparathyroidism during her pregnancy is presented.

Case report: A 30-year-old woman at 27 weeks of gestation was admitted to the hospital because of polyhydramnios, weakness, pain and increasing edema of lower limbs. Calcium, 14.7 mg/dl; PTH-1244 pg/ml, 25OH; vitamin D, 6.5 ng/ml, normal renal function were found in laboratory studies. An USG of neck revealed a hypoechogenic structure 20×15 mm below the lower pole of the right thyroid lobe. The diagnosis of primary hyperparathyroidism was established. Numerous bone lesions with the nature of brown tumors were found in the studies performed after birth. Scintigraphic examination confirmed the presence of enlarged parathyroid glands. Having given birth, she underwent a surgery leading to the normalization of calcium metabolism. At 31 weeks of gestation, due to the premature rupture of membranes, cesarean section was performed. The patient gave birth to her first child, female (5/5/7 point. Apgar). On the 11th day of life, diarrhea developed and electrolyte disturbances (hipocalcemia 4.4 mg/dl and hypomagnesemia 1.0 mg/dl) were observed. Genetic testing for Di George syndrome was performed because of the identified clinical features: a small typical dysmorphia, regurgitation through the nose, lack of thymus in USG, low PTH level. The diagnosis was confirmed. Genetic testing of the child’s parents did not show the presence of any mutations.

Conclusions: i) It is interesting whether chronic hypercalcemia in the mother could have an impact on the presence of mutations in the child. ii) To our knowledge, this is the first report of the coexistence of maternal Di George syndrome and primary hyperparathyroidism in a child.