ESPE Abstracts

(DPG)-plus syndrome is a rare craniofacial anomaly. It usually occurs in combination with other craniofacial defects. The etiology of this condition remains unknown. Survivors to late childhood have either preserved pituitary function or central precious puberty. Idiopathic infantile hypercalcemia (IHH) is another rare condition that predominantly affects infants. The co-occurrence of (DPG)-plus syndrome and IIH has not been reported previously. We will also present a case report of pediatric patient with double pituitary gland-plus syndrome who was also found to have Idiopathic infantile hypercalcemia. We will also present a summary of 37 reported cases of DPG in children, and 7 summary of 7reported cases in adults. The summary tables include their age of detection of DPG, the pattern of pituitary hormone deficiency, the radiological finding of pituitary and associated brain abnormalities and summary of other associated endocrine disorders including precious puberty.

Case description: We report for the first time in medical literature, a case of a 2 years 4 months old female with (DPG)-plus syndrome and (IIH). (DPG)-plus syndrome was diagnosed in early neonatal period; she has preserved pituitary function up to the time of writing this report. Regarding IIH, she was kept on low Ca diet until the age of 2 years when hypercalcemia resolved spontaneously.

Conclusion: (DPG)-plus syndrome is a recently described entity in medical literature(1) (2). Both (DPG)-plus syndrome and IHH are rare conditions. The potential cause of the coexistence of these conditions in our patient is not fully understood. IHH can cause hypercalciuria and nephrocalcinosis if it remains unrecognized and untreated. We suggest that infants with DPG-plus syndrome should be routinely screened for IHH. Apart from pubertal disturbances, other abnormalities involving the hypothalamic-pituitary axis have not been previously described in pediatric individuals with double pituitary gland (DPG), including those with (DPG)-plus syndrome who survives to late childhood.