2 subjects with growth retardation and hypoglycemia associated with pituitary aplasia were found to have concomitant congenital anomalies of the CVS. Subject 1, a white female, was born at 37 weeks gestation (length <3rd percentile; normal weight and head circumference [HC]) with cleft lip and palate and situs inversus; growth retardation and hypoglycemia were evident by 24 months of age. Subject 2, a white male, was born at 42 weeks gestation(normal length, weight, HC) and later diagnosed with Tetralogy of Fallot, dextrocardia and situs inversus; growth retardation, hypoglycemia, micropenis and bilateral cryptorchidism were noted during evaluation at 7 months of age, following cardiac catheterization studies. MRI in both subjects demonstrated a poorly developed sella turcica, aplasia of the pituitary gland and stalk and ectopic position of the neurohypophysis. Provocative hypothalamic-pituitary testing confirmed multiple anterior pituitary hormone deficiencies; neither child exhibited features of diabetes insipidus.

Embryologic development of the neuro- and adenohypophysis and cardiovascular system occurs simultaneously between the fourth and seventh weeks of gestation (approximately 20-50 days) yet the association of pituitary aplasia and congenital anomalies of the CVS has not been described in previous reports of sporadic and familial forms of pituitary aplasia. The clinical findings in these two subjects support a common embryologic event occurring during a critical period in the first trimester. Further, situs inversus should be considered a midline rotational event associated with an increased risk of congenital pituitary dysfunction.