KBG syndrome (OMIM 148050) is a very rare genetic disorder characterized by macrodontia, distinctive craniofacial abnormalities, short stature, intellectual disability, skeletal, and neurologic involvement. Approximately 60 patients have been reported since it was first described in 1975. Recently mutations in ANKRD11 have been documented in patients with KBG syndrome, and it has been proposed that haploinsufficiency of ANKRD11 is the cause of this syndrome. In addition, copy number variation in the 16q24.3 region that includes ANKRD11 results in a variable phenotype that overlaps with KBG syndrome and also includes autism spectrum disorders and other dysmorphic facial features. In this report we present a 2½-year-old African American male with features highly suggestive of KBG syndrome. Genomic microarray identified an intragenic 154 kb deletion at 16q24.3 within ANKRD11. This child's mother was mosaic for the same deletion (present in approximately 38% of cells) and exhibited a milder phenotype including macrodontia, short stature and brachydactyly. This family provides additional evidence that ANKRD11 causes KBG syndrome, and the mild phenotype in the mosaic form suggests that KBG phenotypes might be dose dependent, differentiating it from the more variable 16q24.3 microdeletion syndrome. This family has additional features that might expand the phenotype of KBG syndrome.

RCC mortality. However, both NF-kB and HIF1a have a limitation in the variability of their predictive values, possibly due to the small patient sample size and RCC heterogeneity, and they also did not show positive predictive values for cancer recurrence.

METHODS: 553 prostate biopsies (2008)(2009)(2010)(2011)(2012)(2013) were performed at our institute. 22 patients refused biopsy. We investigated incidence and severity of PCa in 203 men diagnosed with hypogonadism (T 350 ng/dl). 42 men opted for and 162 against TRT. Biopsies were performed when indicated according to EAU guidelines.RESULTS: In T-treated patients, 42 men (20.7% of the hypogonadal group) underwent a prostate biopsy. 7/42 (16.7%) biopsies were positive. Gleason score was 6 in 5 (71.4%) and >6 in 2 (28.6%) patients. The predominant Gleason score was 3 in all 7 patients (100%). Tumor grade was II in 6 (85.7%) and II-III in 1 (14.3%) patient.In untreated hypogonadal men, 162 men (79.4% of the hypogonadal group) underwent a prostate biopsy. 84/162 (51.9%) biopsies were positive. Gleason score was 6 in 34 (40.5%) and >6 in 50 (59.5%) patients. The predominant Gleason score was 3 in 65 (77.4%), 4 in 17 (20.2%) and 5 in 2 (2.4%) patients. Tumor grade was II in 35 (41.7%), II-III in 10 (11.9%), III in 34 (40.5%) and IV in 5 (6.0%) patients.CONCLUSIONS: Testosterone treatment in hypogonadal men does not increase incidence or severity of PCa in comparison to an untreated hypogonadal control group. Hypogonadism did not protect against prostate cancer. Protective role of TRT against PCa must be discussed and considered in larger studies.

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