scholarly journals Central precocious puberty due to hypothalamic hamartoma in neurofibromatosis type 1

HORMONES ◽  
2016 ◽  
Vol 15 (1) ◽  
pp. 144-146 ◽  
Author(s):  
Emanuele Bartolini ◽  
Stefano Stagi ◽  
Perla Scalini ◽  
Andrea Bianchi ◽  
Antonio Ciccarone ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Neurofibromatosis Type 1 ◽  
Central Precocious Puberty ◽  
Neurofibromatosis Type ◽  
Hypothalamic Hamartoma

scholarly journals Central precocious puberty due to hypothalamic hamartoma in neurofibromatosis type 1

HORMONES ◽  
2015 ◽  
Author(s):  
Emanuele Bartolini ◽  
Stefano Stagi ◽  
Perla Scalini ◽  
Andrea Bianchi ◽  
Antonio Ciccarone ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Neurofibromatosis Type 1 ◽  
Central Precocious Puberty ◽  
Neurofibromatosis Type ◽  
Hypothalamic Hamartoma

scholarly journals Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Valentina Orlandi ◽  
Paolo Cavarzere ◽  
Laura Palma ◽  
Rossella Gaudino ◽  
Franco Antoniazzi
Keyword(s):  
Genetic Analysis ◽  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Neurofibromatosis Type ◽  
Case Presentation ◽  
New Variant ◽  
Legius Syndrome ◽  
Timing Of Puberty ◽  
First Time

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.

Neurofibromatosis Type 1 and Precocious Puberty

2000 ◽  
Vol 13 (Supplement) ◽  
Author(s):  
R. Virdis ◽  
M. Sigorini ◽  
A. Laiolo ◽  
E. Lorenzetti ◽  
M.E. Street ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals PRECOCIOUS PUBERTY IN NEUROFIBROMATOSIS TYPE 1 (NF-1)

1993 ◽  
Vol 33 ◽  
pp. S88-S88
Author(s):  
R Habiby ◽  
B L Silverman ◽  
R Listernick ◽  
J Charrow
Keyword(s):  
Precocious Puberty ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study

2020 ◽  
Vol 105 (6) ◽  
pp. e2214-e2221 ◽  
Author(s):  
Claudia Santoro ◽  
Silverio Perrotta ◽  
Stefania Picariello ◽  
Martina Scilipoti ◽  
Mario Cirillo ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Neurofibromatosis Type 1 ◽  
Central Precocious Puberty ◽  
Neurofibromatosis Type ◽  
Endocrine Disorders ◽  
Optic Pathway ◽  
Oncological Treatment ◽  
Diencephalic Syndrome ◽  
Optic Pathway Gliomas

Abstract Context Up to 20% of children with neurofibromatosis type 1 (NF1) develop low-grade optic pathway gliomas (OPGs) that can result in endocrine dysfunction. Data on prevalence and type of endocrine disorders in NF1-related OPGs are scarce. Objectives The aim of the study was to determine the prevalence of endocrine dysfunctions in patients with NF1 and OPGs and to investigate predictive factors before oncological treatment. Design Multicenter retrospective study. Settings and patients Records were reviewed for 116 children (64 females, 52 males) with NF1 and OPGs followed at 4 Italian centers. Main outcome measures We evaluated endocrine function and reviewed brain imaging at the time of OPG diagnosis before radio- and chemotherapy and/or surgery. OPGs were classified according to the modified Dodge classification. Results Thirty-two children (27.6%) with a median age of 7.8 years had endocrine dysfunctions including central precocious puberty in 23 (71.9%), growth hormone deficiency in 3 (9.4%), diencephalic syndrome in 4 (12.5%), and growth hormone hypersecretion in 2 (6.2%). In a multivariate cox regression analysis, hypothalamic involvement was the only independent predictor of endocrine dysfunctions (hazard ratio 5.02 [1.802-13.983]; P = .002). Conclusions Endocrine disorders were found in approximately one-third of patients with Neurofibromatosis type 1 and OPGs before any oncological treatment, central precocious puberty being the most prevalent. Sign of diencephalic syndrome and growth hormone hypersecretion, although rare, could be predictive of optic pathway gliomas in NF1. Tumor location was the most important predictor of endocrine disorders, particularly hypothalamic involvement.

Precocious puberty in children with neurofibromatosis type 1

1995 ◽  
Vol 126 (3) ◽  
pp. 364-367 ◽  
Author(s):  
Reema Habiby ◽  
Bernard Silverman ◽  
Robert Listernick ◽  
Joel Charrow
Keyword(s):  
Precocious Puberty ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type
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