Precocious puberty in three boys with Sanfilippo A (mucopolysaccharidosis III A).

Three boys with mucopolysaccharidosis type III A (Sanfilippo) entered puberty at the ages of 5.9, 6.6 and 9.6 years. The diagnosis of central precocious puberty (GnRH-dependent) was established on the basis of pubertal levels of basal and GnRH-stimulated gonadotropins, LH and FSH. All the patients were tall from early infancy, but there was no acceleration of growth velocity or bone maturation despite advanced pubertal stage and high testosterone levels. Computerized tomography of the brain showed changes which are characteristic for Sanfilippo. This is the first time that precocious puberty has been described in Sanfilippo patients. The question of whether the precocious puberty in our Sanfilippo patients is a coincidence or is related in some way remains open.