Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report

Extremely rare cases show co-occurrence of Sjogren-Larsson syndrome (SLS) and central precocious puberty (CPP), and our understanding of it is still limited. In this case report, we reported a 9-year-old boy (weight: 20 kg; height: 120 cm) showing SLS and CPP simultaneously. The patient presented to our hospital with testicle enlargement and presence of pubic hair. SLS was diagnosed based on the presence of ichthyosis and intelligent disability, together with genetic confirmation by next-generation sequencing, which identified two pathogenic variants (c.608_609del and c.1157A>G) in the ALDH3A2 gene. The diagnosis of CPP was established based on mildly advanced bone age, ultrasonographic evidence of pubertal development, and elevated basal gonadotropin and testosterone levels. The patient subsequently received triptorelin acetate (3.75mg) for treating CPP, while merely moisturization and rehabilitation was used for treating SLS. In the follow-up, he showed growth delay, with a body height of 120 cm at age 8.5 years old and 123.5 cm at 9.5 years old.