| Autor: |
Valentina Orlandi, Paolo Cavarzere, Laura Palma, Rossella Gaudino, Franco Antoniazzi |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-4 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1824-7288 |
| DOI: |
10.1186/s13052-021-01004-9 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
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