Unmasking of latent hypoparathyroidism in a child with partial DiGeorge syndrome by ethylenediaminetetraacetic acid infusion.
DiGeorge syndrome is a rare congenital anomaly with a wide range of clinical manifestations. This syndrome is usually associated with hypocalcaemia resulting from primary hypoparathyroidism. We report here a case of an 8-year-old boy with partial DiGeorge syndrome who presented initially with neonatal hypocalcaemia, but was subsequently normocalcaemic. Latent hypoparathyroidism was unmasked by a diagnostic EDTA infusion resulting in hypocalcaemia without a parathyroid hormone response. We propose that EDTA infusions can be useful in the diagnosis of latent hypoparathyroidism in children.
Hasegawa
T
T
Division of Endocrinology and Metabolism, Tokyo Metropolitan Kiyose Children's Hospital, Japan.
Hasegawa
Y
Y
Yokoyama
T
T
Koto
S
S
Asamura
S
S
Tsuchiya
Y
Y
D002648:Child; D004062:DiGeorge Syndrome / Q000097:blood / Q000150:complications*; D004492:Edetic Acid; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis* / Q000209:etiology; D008297:Male
D004492:Edetic Acid