Valentina Orlandi1, Paolo Cavarzere2, Laura Palma1, Rossella Gaudino1,3, Franco Antoniazzi1,3,4. 1. Pediatric Division, Department of Pediatrics, University Hospital of Verona, Piazzale Stefani 1, 37126, Verona, Italy. 2. Pediatric Division, Department of Pediatrics, University Hospital of Verona, Piazzale Stefani 1, 37126, Verona, Italy. paolocavarzere@yahoo.it. 3. Pediatric Clinic, Department Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy. 4. Regional Center for the diagnosis and treatment of children and adolescents rare skeletal disorders. Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
Abstract
BACKGROUND: Central precocious puberty is a condition characterized by precocious activation of the hypothalamic-pituitary-gonadal axis. It may be idiopathic or secondary to organic causes, including syndromes such as Neurofibromatosis type 1 (NF1). CASE PRESENTATION: We presented a girl of 6 years and 10 months with almost 11 café-au-lait skin macules, without other clinical or radiological signs typical of NF1, and with a central precocious puberty. Genetic analysis evidenced the new variant NM-152594.2:c.304delAp. (Thr102Argfs*19) in SPRED1 gene, which allowed to diagnose Legius syndrome. CONCLUSIONS: We report for the first time a case of central precocious puberty in a girl with Legius syndrome. The presence of central precocious puberty in a child with characteristic café-au-lait macules should suggest pediatricians to perform genetic analysis in order to reach a definitive diagnosis. Further studies on timing of puberty in patients with RASopathies are needed to better elucidate if this clinical association is casual or secondary to their clinical condition.
BACKGROUND: Central precocious puberty is a condition characterized by precocious activation of the hypothalamic-pituitary-gonadal axis. It may be idiopathic or secondary to organic causes, including syndromes such as Neurofibromatosis type 1 (NF1). CASE PRESENTATION: We presented a girl of 6 years and 10 months with almost 11 café-au-lait skin macules, without other clinical or radiological signs typical of NF1, and with a central precocious puberty. Genetic analysis evidenced the new variant NM-152594.2:c.304delAp. (Thr102Argfs*19) in SPRED1 gene, which allowed to diagnose Legius syndrome. CONCLUSIONS: We report for the first time a case of central precocious puberty in a girl with Legius syndrome. The presence of central precocious puberty in a child with characteristic café-au-lait macules should suggest pediatricians to perform genetic analysis in order to reach a definitive diagnosis. Further studies on timing of puberty in patients with RASopathies are needed to better elucidate if this clinical association is casual or secondary to their clinical condition.
Entities:
Keywords:
Legius syndrome; Neurofibromatosis type 1; Precocious puberty; Rasophaties
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