A CASE OF SOTOS SYNDROME CAUSED BY A NOVEL VARIANT IN THE NSD1 GENE: A PROPOSED RATIONALE TO TREAT ACCOMPANYING PRECOCIOUS PUBERTY

Ozcabi B., Akay G., YEŞİL SAYIN G., Yalcin E. U., Kirmizibekmez H.

ACTA ENDOCRINOLOGICA-BUCHAREST, cilt.16, sa.2, ss.245-249, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Sayı: 2
  • Basım Tarihi: 2020
  • Doi Numarası: 10.4183/aeb.2020.245
  • Dergi Adı: ACTA ENDOCRINOLOGICA-BUCHAREST
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE
  • Sayfa Sayıları: ss.245-249
  • Anahtar Kelimeler: Central precocious puberty, GnRH analogue, NSD1 gene, Pineal cyst, Sotos syndrome
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.