Novel pathogenic variant of DICER1 in an adolescent with multinodular goiter, ovarian Sertoli–Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation
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Aleida Rivera-Hernández
Abstract
Objectives
To present a case of a new pathogenic variant of DICER1.
Case presentation
13-year-old female with non-toxic multinodular goiter and ovarian Sertoli–Leydig cell tumor, in whom a pineal parenchymal tumor of intermediate differentiation was diagnosed. Next-generation sequencing revealed a new germline mutation in the DICER1 gene (exon 16, c2488del [pGlu830Serfs*2] in heterozygosis), establishing the diagnosis of DICER1 syndrome.
Conclusions
Mutations in the DICER1 gene cause genetic predisposition to a wide spectrum of benign or malignant tumors from childhood to adulthood.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no competing of interest.
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Informed consent: Informed consent was obtained from the patient’s parents.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
References
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Articles in the same Issue
- Frontmatter
- Original Articles
- Metabolic risk factors in prepubertal and pubertal patients with overweight and obesity
- Blood pressure in girls with central precocious puberty receiving GnRH analogue therapy
- Norethindrone dosing for adequate menstrual suppression in adolescents
- Apparent diffusion coefficient (ADC) measurements and morphometric evaluation of the cranium in age-matched children with central precocious puberty
- Characteristics of vitamin D deficiency hypocalcemia inpatient admissions at a single tertiary center
- Early pregnancy exposure of maternal triglyceride levels and its effects on birth weight
- Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan
- Congenital hypothyroidism in Bogotá, Colombia: a current description (2015–2021)
- Case Reports
- Case report: mitochondrial diabetes mellitus in a Chinese family due to m.3243A>G
- Novel pathogenic variant of DICER1 in an adolescent with multinodular goiter, ovarian Sertoli–Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation
- Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees
- A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency
- The benefit of rhGH therapy in a Chinese child with 12q14 microdeletion syndrome: a case report
- Adjustment of octreotide dose given via insulin pump based on continuous glucose monitoring (CGM) in a child with congenital hyperinsulinism
