Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment
Tuğba Kontbay1, Zeynep Şıklar2, Serdar Ceylaner3, Merih Berberoğlu21Şanlıurfa Training and Research Hospital, Clinic of Pediatric Endocrinology, Şanlıurfa, Turkey
2Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
3Intergen Genetic Center, Ankara, Turkey
Sotos syndrome (SS) is characterized by overgrowth, distinctive facial appearance, and learning disability. It is caused by heterozygous mutations, including deletions of NSD1 located at chromosome 5q35. While advanced bone age can occur in some cases, precocious puberty (PP) has only been reported in three cases previously. Here, we reported a case of SS diagnosed in the infancy period with central PP. The discovery of potential factors that trigger puberty is one of the central mysteries of pubertal biology. Depot gonadotropinreleasing hormone analogs constitute the first-line therapy in central PP (CPP), which has proven to be both effective and safe. In our cases, leuprolide acetate at maximum dose was not successful in controlling pubertal progression, and cyproterone acetate (CPA) was added to therapy, with successful control of pubertal progression. In some specific syndromes with PP, such as SS, treatment can be challenging. CPA may be an asset for effective treatment.
Keywords: Sotos syndrome, precocious puberty, NSD1, cyproterone acetateCorresponding Author: Tuğba Kontbay, Türkiye
Manuscript Language: English
