TRANSIENT CONGENITAL HYPOPARATHYROIDISM - RESOLUTION AND RECURRENCE IN CHROMOSOME 22Q11 DELETION

Transient congenital hypoparathyroidism (TCHP), with spontaneous resol ution in infancy and subsequent recurrence in childhood, has not been associated with a specific cause. We report three patients with TCHP, initially with severe but transient neonatal hypocalcemia. During chil dhood, recurrence of hypoparathyroidism and recognition of phenotypic features suggested a diagnosis of velocardio-facial syndrome (VCFS). F eatures specific for the DiGeorge syndrome, with known clinical and ge netic overlap with VCFS, were not present except for hypoparathyroidis m. Genetic analysis confirmed chromosome 22q11 deletion in each patien t, TCHP may be the earliest specific finding in 22q11 deletion/VCFS su bgroup, with other diagnostic features emerging in later childhood, In fants with resolved TCHP need continued observation of parathyroid suf ficiency, genetic analysis, and examination for anomalies associated w ith chromosome 22q11 deletion.