Endocrine Abstracts

We report a case of a 20-year-old male with a clinical profile of Gorlin-Goltz syndrome with delayed puberty. This 20-year-old man had learning disablitiy, macrocephaly and multiple jaw cysts. His other clinical features included agenesis of the carpus callosum, obesity and multiple cutaneous lesions suggestive of angiolipomata. His pubertal development was delayed although a LHRH test done at the age of 16 showed a normal response. Radiological features included macrocephaly, cystic areas in the left mandible, metaphysial widening and several discrete areas of bone sclerosis in the long bones. These features are thought to be most consistent with Gorlin-Goltz syndrome. Genetic tests for Bannanyan-Riley-Ruvalcaba (PTEN mutation) and Soto’s (NSD1 mutation) were negative. An initial test for PTCH mutation, which is positive in 60–85% of patients with Gorlin-Goltz syndrome, was negative in our case but we are awaiting the results of the comparative genomic hybridization studies.

This case report documents a rare manifestation of a rare disease. We have found only one case of hypogonadism in Gorlin-Goltz syndrome reported in the literature. We are unaware of any other reports of delayed puberty associated with this syndrome. We feel that it is important to look for gonadal changes and a lag in pubertal development in this patient group.