PUBERTAL DEVELOPMENT IN THE PRADER‐LABHART‐WILLI SYNDROME

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Abstract
The sexual maturation in the Prader-Labhart-Willi (PLW) syndrome was investigated in 14 patients, 10 females and 4 males. A wide variability in the pattern of pubertal development was found including delayed puberty in 5 patients and normal puberty in 4 patients; sexual precocity was also observed in 5 patients, true precocious puberty in 1 patient and incomplete sexual precocity in the form of precocious pubarche in 4 patients. In 5 patients, 3 with precocious pubarche, the appearance of the pubertal signs was followed by a delay or arrest in their future development. An LH-RH [luliberin] stimulation test was performed in 11 patients. In the 6 patients who eventually developed normal puberty, the basal levels and the peak responses of both LH [lutropin] and FSH [follitropin] were within the range of those in normal controls of the same pubertal stage. In 4 patients showing marked delay or arrest of puberty, the basal levels were normal or low and the responses of LH and FSH to LH-RH were blunted. Priming with repeated LH-RH stimulation in 1 of the male patients led to an augmented LH response, suggesting a hypothalamic hypogonadotrophism. The lack of uniformity in the pattern of sexual maturation in the PLW syndrome is probably due to a variability in the location and extent of a hypothalamic lesion, which may comprise an active process continuing beyond the perinatal period.