GROWTH-HORMONE DEFICIENCY IN PATIENTS SUF FERING FROM LAURENCE-MOON SYNDROME

Background. The features of Laurence-Moon syndrome vary widely from me ntal retardation, hypogenitalism to retinopathy; the dominant one is p rogressive neurological involvement, ataxia and spastic paraplegia. Li ke Bardet-Biedl syndrome, its inheritance is autosomal recessive. This paper describes the endocrine investigation of a new family of Lauren ce-Moon syndrome subjects. Case report. The 5 patients (3 girls, 2 boy s) in this family of 12 sibs, all suffered from retinopathy, mental re tardation and firts metacarpal hypoplasia with proximal placement of t humb. All five had had spastic paraplegia since the age of 5-6 years, growth retardation and hypogonadism. Two had had seizures; only one wa s obese. Results. Four patients (2 girls, 2 boys, aged 19, 15, 18 and 19 years) had low basal plasma FSH and LH levels. They had no FSH-LH r esponse to gonadotropin-releasing hormone; their plasma testosterone a nd oestradiol concentrations were very low. The growth hormone peak in response to arginine-insulin were low in these 4 patients (1.5 ng/ml; 3.8 ng/ml; 5 ng/ml; 4.8 ng/ml). One boy and one girl were given sex s teroids for a few months, with good effect on their sexual characters. Their growth hormone levels remained low (2.9 ng/ml, 6.5 ng/ml). One boy was given FSH and LH analogues with good effects on sexual charact ers and testicle growth. He was also given growth hormone, and had a g rowth spurt of 5.5 cm after 9 months treatment. Conclusion. The hypogo nadism of Laurence-Moon patients seems to be of central origin. It is associated with growth hormone deficiency.