Search

To present a case of a new pathogenic variant of DICER1. 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. Mutations in the DICER1 gene cause genetic predisposition to a wide spectrum of benign or malignant tumors from childhood to adulthood. [ABSTRACT FROM AUTHOR]

Copyright of Revista Mexicana de Endocrinología, Metabolismo y Nutrición is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The Van Wyk-Grumbach syndrome (VWGS) is characterized by severe hypothyroidism, peripheral precocious puberty, delayed bone age, hyperestrogenism, prepubertal luteinizing hormone, and elevated follicle-stimulating hormone. Patients with Down syndrome have a high susceptibility and prevalence of thyroid disorders. However, the coexistence of VWGS and trisomy 21 is uncommon. We present a case of a 5-year-old Mexican girl with Down syndrome, severe autoimmune hypothyroidism, pituitary enlargement, hyperprolactinemia, peripheral precocious puberty, multiple ovarian cysts, and delayed bone age, with a clinical diagnosis of VWGS. The patient presented with a remission of these manifestations after treatment with levothyroxine. Patients with Down syndrome, precocious puberty, hyperestrogenism, prepuberal luteinizing hormone, high follicle-stimulating hormone, and delayed bone age should be evaluated with a thyroid profile due to the possibility of VWGS. [ABSTRACT FROM AUTHOR]