Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome

Pallister-Hall syndrome (PHS) is characterized by hypothalamic hamartoma, b ifid epiglottis, and central or postaxial polydactyly, Familial transmissio n is autosomal dominant; isolated cases also occur. To screen for hypothala mic-pituitary dysfunction in PHS, we studied a 12 year-old boy (patient #1) , and 14 additional patients (patients #2-14: 7M, 7F; ages 4-72 yr), We per formed serial sampling of GH, LH/FSH, TSH, and cortisol from 20.00-08 00 h, At 08.00 h, we measured IGF-I, peak responses of LH and FSH after GnRH, an d cortisol after ACTH, We found that 6/7 children, including patient #1, an d 6/8 adults had low or absent spontaneous GH secretion and/or low levels o f IGF-I, Patient #1 also had accelerated pubertal development, but no other patient had abnormalities of the pituitary-gonadal axis, and none of the 1 4 patients had an abnormal thyroid or adrenal axis. We conclude that decrea sed pituitary GH secretion is common in PHS, and may exist in the absence o f other forms of endocrine dysfunction.