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PITUITARY APIASIA IN AN 11 YEAR OLD GIRL: BIOCHEMICAL AND RADIOLOGICAL EVALUATION

An 11 year old girl presented with short stature. Panhypopituitarism was diagnosed and replacement therapy was started with thyroxine, cortisol, and growth hormone treatment, which resulted in catch-up growth. We obtained the following hormonal data: 1) undetectable growth hormone secretion after arginine-insulin (<0.8 ng/ml), 2) no prolactin rise after TRF and chlorpromazine (<2 ng/ml); 3) no TSH rise after TRF (<1.0 μIU/ml), 4) no LH, FSH rise after LRF. When LRF was given 0.025 ug/kg IV every 2 hours for 5 days (Valk, JCEM 53, 184, 1981) LH remained <3.5 m IU/ml and FSH was undetectable. A 5-d ACTH infusion caused a modest rise of plasma cortisol (<0.2 to 8.8 ug/dl), consistent with secondary adrenal insufficiency. Posterior pituitary function and adrenomedullary function were normal. The thyroid responded normally to exogenous TSH. Aldosterone secretion increased upon upright posture and on a low salt diet. Skull radiography showed a shallow sella turcica. Cerebral computed tomography did not identify the pituitary gland and suggested hypoplasia of the right carotid artery. This was confirmed by a a technetium scan of the brain, which showed asymmetric cerebral blood flow. In conclusion, this patient had biochemical and radiological evidence of absence of the pituitary gland. Thus, although she survived without treatment until age 11, she appears to have the syndrome of congenital pituitary aplasia described by Blizzard (J. Ped. 48, 782, 1956). Pituitary vascular insufficiency is a possible cause of this patient's pituitary aplasia.