neurofibromatosis type 1 (NF1), Sturge-Weber syndrome, and tuberous sclerosis). Although it is frequently idiopathic, it might also be secondary to organic causes, such as central nervous system tumors, injury of the central nervous system, genetic conditions or syndromes (e.g. CPP is due to a precocious activation of the hypothalamic-pituitary-gonadal axis. It is possible to distinguish a central precocious puberty (CPP), GnRH-dependent, from a peripheral precocious puberty (PPP), GnRH-independent.
Clinically, PP causes early development of secondary sexual characteristics, rapid bone maturation, increased growth velocity, behavioral changes, inappropriate physical aspect for the chronological age, and reduction in adult height. Precocious puberty (PP) is a condition characterized by the appearance of pubertal signs before age 8 for girls and age 9 for boys and is 8 times more frequent in females than in males. 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. 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.
We report for the first time a case of central precocious puberty in a girl with Legius syndrome. (Thr102Argfs*19) in SPRED1 gene, which allowed to diagnose Legius syndrome. Genetic analysis evidenced the new variant NM-152594.2:c.304delAp.
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.
It may be idiopathic or secondary to organic causes, including syndromes such as Neurofibromatosis type 1 (NF1). Central precocious puberty is a condition characterized by precocious activation of the hypothalamic-pituitary-gonadal axis.
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