RASopathies, such as Noonan, Costello, and cardio-facio-cutaneous syndromes, are developmental disorders caused by mutations in rat sarcoma–mitogen-activated protein kinase pathway genes. Mutations that cause Noonan syndrome have been associated with delayed puberty. Here we report 4 patients with either Costello or cardio-facio-cutaneous syndrome who developed precocious puberty, suggesting complex regulation of the hypothalamic–pituitary–gonadal axis and the timing of puberty by the rat sarcoma–mitogen-activated protein kinase pathway. Additional study of the timing of puberty among patients with RASopathies is warranted to ascertain the incidence of delayed and precocious puberty in these conditions and to examine genotype–phenotype correlations, which may provide insight into pathways that regulate the timing of puberty.
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December 2016
Case Report|
December 01 2016
RASopathies Are Associated With Delayed Puberty; Are They Associated With Precocious Puberty Too?
Daniëlle C.M. van der Kaay, MD;
aDivisions of Endocrinology and
Address correspondence to Daniëlle C.M. van der Kaay, MD, PhD, Haga Hospital/Juliana Children’s Hospital, Division of Pediatrics, Leyweg 275, 2545 CH The Hague, The Netherlands. E-mail: d.vanderkaay@hagaziekenhuis.nl
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Bat-Sheva Levine, MD;
Bat-Sheva Levine, MD
bDivision of Endocrinology, Boston Children’s Hospital, Boston, Massachusetts; and
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Daniel Doyle, MD;
Daniel Doyle, MD
cDivision of Endocrinology, Nemours Alfred I. Dupont Hospital for Children, Wilmington, Delaware
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Roberto Mendoza-Londono, MD;
Roberto Mendoza-Londono, MD
aDivisions of Endocrinology and
dClinical and Metabolic Genetics, The Hospital for Sick Children, and
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Mark R. Palmert, MD
Mark R. Palmert, MD
aDivisions of Endocrinology and
eDepartments of Pediatrics and
fPhysiology, The University of Toronto, Toronto, Ontario, Canada;
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Address correspondence to Daniëlle C.M. van der Kaay, MD, PhD, Haga Hospital/Juliana Children’s Hospital, Division of Pediatrics, Leyweg 275, 2545 CH The Hague, The Netherlands. E-mail: d.vanderkaay@hagaziekenhuis.nl
POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
Pediatrics (2016) 138 (6): e20160182.
Article history
Accepted:
August 09 2016
Citation
Daniëlle C.M. van der Kaay, Bat-Sheva Levine, Daniel Doyle, Roberto Mendoza-Londono, Mark R. Palmert; RASopathies Are Associated With Delayed Puberty; Are They Associated With Precocious Puberty Too?. Pediatrics December 2016; 138 (6): e20160182. 10.1542/peds.2016-0182
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