EMPTY SELLAE, IMPAIRED TESTOSTERONE SECRETION, AND DEFECTIVE HYPOTHALAMIC-PITUITARY GROWTH AND GONADAL AXES IN CHILDREN WITH BARDET-BIEDL SYNDROME

We evaluated growth parameters and hypothalamic-pituitary-gonadal and growth functions in five children with Bardet-Biedl syndrome (BBS). Th ree of the five children had stature below the fifth percentile for ag e. Their growth hormone (GH) response to provocation was defective, an d computed tomographic (CT) scanning revealed empty sellae in all of t hem. All the children were obese (body mass index [BMI] > 95th percent ile for age). Three had hypercholesterolemia. Their basal serum testos terone concentration and testosterone response to 3-day human chorioni c gonadotropin (HCG) stimulation were significantly lower than the lev els in 12 age-matched obese normal children. Testosterone secretion fa iled to respond to HCG therapy for 4 weeks. Both basal gonadotropin le vels (luteinizing hormone [LH] and follicle-stimulating hormone [FSH]) and gonadotropin responses to LH-releasing hormone (LHRH) stimulation were normal and did not differ among the two study groups. It appears that primary hypogonadism is a cardinal feature of BBS, and it may be accompanied by hypothalamic and pituitary abnormalities. Copyright (C ) 1996 by W.B. Saunders Company