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Analysis of institutional authors

Gea-Izquierdo, ECorresponding Author

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September 12, 2025
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Diabetic Nephropathy, Retinopathy, and Functional Hypogonadism in a Patient with MODY10: A Case Report

Publicated to: Medicina-Lithuania. 60 (5): 830- - 2024-05-01 60(5), DOI: 10.3390/medicina60050830

Authors:

Ruiz-Urbaez, R; Villagómez-Estrada, MV; Reyes-Silva, C; Quishpe-López, D; Males-Maldonado, D; Salazar-Vega, J; Gea-Izquierdo, E
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Affiliations

Dr Jose Eleuterio Gonzalez Hosp, Unit Endocrinol - Author
Eugenio Espejo Hosp, Unit Endocrinol & Diabet - Author
Eugenio Espejo Hosp, Unit Genet - Author
Pontif Catholic Univ Ecuador, Fac Med - Author
Rey Juan Carlos Univ, Maria Zambrano Program European Union - Author
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Abstract

(1) Background and objectives: Maturity-onset diabetes of the young (MODY) is a group of diabetes caused by gene defects related to insulin secretion. MODY1, MODY2, and MODY3 are the most common and account for approximately 80% of all cases. Other types are relatively rare. This study describes the clinical, analytical, and genetic characteristics of a patient with MODY10, and diabetic nephropathy, retinopathy, and functional hypogonadism diagnosis. (2) Materials and methods: A clinical case was analyzed and whole exome generation sequencing (WES) was used to detect mutations related to a monogenic variant. (3) Results: A seventeen-year-old male patient, who was diagnosed with apparent type 1 diabetes at the age of eight was started with insulin therapy. He came to the emergency room with glycemic decompensation, facial, and lower limb edema. During his evaluation, he had near-nephrotic range proteinuria of 2902 mg/24 h, a kidney ultrasound showing mild pyelocalyceal dilation, proliferative diabetic retinopathy, and was also diagnosed with functional hypogonadotropic hypogonadism. These comorbidities improved with adequate glycemic control. WES showed missense variant c.94G>A (p.Gly32Ser) in the INS gene, according to Clinvar corresponding to MODY10. It was a de novo variant not reported in his parents. (4) Conclusions: Monogenic diabetes (MD) is rare and MODY10 is among the less frequent types. MODY should be suspected in patients with type 1 phenotype with negative autoimmunity even in the absence of a family history of diabetes. To the best of our knowledge, we present here the first patient with these phenotypic traits of MODY10 reported in Latin America.
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Keywords

Glomerular hyperfiltrationHypogonadismIns geneMaturity-onset diabetes of the young (mody)NephropathyOnsetPredictionRetinopathy

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Medicina-Lithuania due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2024 there are still no calculated indicators, but in 2023, it was in position 78/332, thus managing to position itself as a Q1 (Primer Cuartil), in the category Medicine, General & Internal.

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2026-04-17:

  • WoS: 2
  • Scopus: 2
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Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2026-04-17:

  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 9 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

    It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

    • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
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    Leadership analysis of institutional authors

    This work has been carried out with international collaboration, specifically with researchers from: Ecuador; Mexico.

    There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: Last Author (Gea Izquierdo, Enrique).

    the author responsible for correspondence tasks has been Gea Izquierdo, Enrique.

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