J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-02886 | DOI: 10.4274/jcrpe.galenos.2021.2020.0273

Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment

Tuðba Kontbay¹, Zeynep Þýklar², Serdar Ceylaner³, Merih Berberoðlu^2
1Sanlýurfa Training and Research Hospital, Clinic of Pediatric Endocrinology, Sanlýurfa, Turkey
²Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey
³Intergen Genetic Center, Ankara, Turkey

Sotos syndrome 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) is reported only in three cases until now. Here, we reported a case of Sotos syndrome diagnosed at the infancy period with central precocious puberty. The discovery of potential factors that trigger puberty is one of the central mysteries of pubertal biology. Depot gonadotropin-releasing
hormone (GnRH) analogs constitute the first-line therapy in central precocious puberty (CPP), which has proven to be both effective and safe. In our cases, leuprolide acetate in maximum dose could not be successful for the control of pubertal progression, and cyproterone acetate (CPA) was added to therapy. Then, pubertal progression was controlled. In some specific syndromes with precocious puberty, such as Sotos syndrome, treatment can be challenging. Cyproterone acetate would be an asset for the benefit of treatment.

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