A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty
Journal of Pediatric Endocrinology and Metabolism, vol.31, no.1, pp.95-99, 2018 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 31 Issue: 1
- Publication Date: 2018
- Doi Number: 10.1515/jpem-2017-0250
- Journal Name: Journal of Pediatric Endocrinology and Metabolism
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.95-99
- Keywords: penile pigmentation, PTEN mutation, testicular microlithiasis, COWDEN-SYNDROME, PTEN MUTATIONS, PHOSPHATASE, HAMARTOMAS
- Lokman Hekim University Affiliated: No
Abstract
© 2018 Walter de Gruyter GmbH, Berlin/Boston.Bannayan Riley Ruvalcaba syndrome (BRRS) is exceedingly rare, with only about 50 reported cases to date. We report a patient with hypoglycemia, precocious puberty and diffuse testicular microlithiasis accompanying BRRS, and think that this case is important in the light of a newly identified mutation in the PTEN gene. Close attention must be paid in terms of PTEN mutations in cases of macrocephaly and accompanying neurological and dermatological findings.