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). Three of the five children had stature below the fifth percentile for age. Their growth hormone (GH) response to provocation was defective, and computed tomographic (CT) scanning revealed empty sellae in all of them. All the children were obese (body mass index [BMI] > 95th percentile for age). Three had hypercholesterolemia. Their basal serum testosterone concentration and testosterone response to 3-day human chorionic gonadotropin (HCG) stimulation were significantly lower than the levels in 12 age-matched obese normal children. Testosterone secretion failed to respond to HCG therapy for 4 weeks. Both basal gonadotropin levels (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.
Soliman
A T
AT
Department of Pediatrics, Royal Hospital, Muscat, Oman.
Rajab
A
A
AlSalmi
I
I
Asfour
M G
MG
D000293:Adolescent; D002648:Child; D004652:Empty Sella Syndrome / Q000150:complications*; D005837:Genitalia, Male / Q000503:physiopathology*; D006128:Growth; D006728:Hormones / Q000097:blood; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology*; D007849:Laurence-Moon Syndrome / Q000145:classification / Q000150:complications* / Q000503:physiopathology*; D008297:Male; D013739:Testosterone / Q000378:metabolism*
D006728:Hormones; D013739:Testosterone