April - June 2020, Volume 16, Issue 2

Ozcabi B, Akay G, Yesil G, Uyur Yalcin E, , Kirmizibekmez H

A Case of Sotos Syndrome Caused by a Novel Variant in the NSD1 Gene: A Proposed Rationale to Treat Accompanying Precocious Puberty

Acta Endo (Buc) 2020, 16 (2): 245-249
doi: 10.4183/aeb.2020.245

Sotos syndrome is characterized by overgrowth, macrocephaly, distinctive facial features, and learning disabilities and is associated with alterations in the nuclear receptor binding SET domain protein 1 (NSD1) gene. Due to the advanced bone age, the eventual adult height is usually at the upper limit of normal. In this case report, a 6-year and 10-month old boy who presented with Sotos syndrome was described. He also had increased testicular volumes with advanced bone age. The stimulated levels of gonadotropins revealed central precocious puberty and brain magnetic resonance imaging (MRI) showed a pineal cyst. A heterozygous duplication variant [NM_022455.4:c.4560dup; p.(His1521Thrfs*9)] in the NSD1 was identified. Triptorelin acetate treatment was started. The aim was to report the novel duplication variant in the NSD-1 in a patient with Sotos syndrome accompanied by a pineal cyst and central precocious puberty, and also to discuss the rationale for treating precocious puberty.

Keywords: Central precocious puberty, GnRH analogue, NSD1 gene, Pineal cyst, Sotos syndrome.

Correspondence: Bahar Özcabi MD, Health Science University Zeynep Kamil Maternity and Children’s Diseases Training and Research Hospital, Division of Pediatric Endocrinology, Üsküdar Opr. Dr. Burhanettin Üstünel Cad. No:10, Istanbul Asya, 34668, Istanbul, Turkey, E-mail: taskinbahar79@yahoo.com