Publications by authors named "Monica F Stecchini"
Children diagnosed with pediatric adrenocortical tumors (pACT) have variable outcomes, and, to date, the disease lacks robust prognostic biomarkers. The prognostic potential of tumor methylation has been demonstrated in several cancers. We aimed to evaluate the pACT methylation profile and its association with disease presentation and survival.
View Article and Find Full Text PDFArticle Synopsis
- Pediatric adrenocortical tumors (pACT) show complex genomic profiles and lack clear prognostic markers and treatment options, prompting research into the Vitamin D3 receptor (VDR) for potential insights.
- A study involving 108 pediatric patients found that most pACT had low VDR expression and high methylation, particularly in more aggressive carcinomas, suggesting a link between VDR status and disease severity.
- The findings indicate that VDR hypermethylation and underexpression could serve as important predictive and prognostic biomarkers for pACT, affecting patient outcomes.
Outcomes of Patients with Central Precocious Puberty Due to Loss-of-Function Mutations in the MKRN3 Gene after Treatment with Gonadotropin-Releasing Hormone Analog.
Neuroendocrinology
July 2021
Introduction: Loss-of-function mutation of MKRN3 represents the most frequent genetic cause of familial central precocious puberty (CPP). The outcomes of gonadotropin-releasing hormone analog (GnRHa) treatment in CPP patients with MKRN3 defects are unknown.
Objective: To describe the clinical and hormonal features of patients with CPP with or without MKRN3 mutations after GnRHa treatment.
Objective: To investigate the impact of early exposure to androgen excess on gonadotropin-dependent puberty (GDP) and final height (FH) of patients with androgen-secreting adrenocortical tumors (ACT) in childhood.
Methods: Retrospective cohort study. Occurrence of GDP and achievement of FH were evaluated.
Background: Loss-of-function mutations in the imprinted gene MKRN3 represent the most common known genetic defects associated with central precocious puberty (CPP).
Methods: We report the first case of a girl carrying an MKRN3 mutation detected in childhood and followed until the development of pubertal signs.
Results: The girl was screened at the age of 4 years because of a positive family history; her sister had developed CPP at 6 years of age and was found to harbor the MKRN3 p.