{
    "abstract": "Non-syndromic primary ovarian insufficiency due to ovarian dysgenesis in 46,XX patients is an uncommon finding in the general population, even though several monogenic variants have been reported as causative factors. Here, we describe a 15-year-old patient diagnosed with gonadal dysgenesis possibly due to the interaction of three potentially pathogenic variants of genes involved in ovarian maturation, namely ",
    "authors": [
        {
            "affiliation": "Department of Pediatrics, Azienda Ospedaliera San Gerardo, Universit\u00e0 degli Studi di Milano Bicocca, Fondazione Monza e Brianza per il Bambino e la Sua Mamma, Monza, Italy.",
            "firstname": "Alessandro",
            "initials": "A",
            "lastname": "Cattoni"
        },
        {
            "affiliation": "Department of Pediatrics, Azienda Ospedaliera San Gerardo, Universit\u00e0 degli Studi di Milano Bicocca, Fondazione Monza e Brianza per il Bambino e la Sua Mamma, Monza, Italy.",
            "firstname": "Alice",
            "initials": "A",
            "lastname": "Spano"
        },
        {
            "affiliation": "Department of Pediatrics, Azienda Ospedaliera San Gerardo, Universit\u00e0 degli Studi di Milano Bicocca, Fondazione Monza e Brianza per il Bambino e la Sua Mamma, Monza, Italy.",
            "firstname": "Anna",
            "initials": "A",
            "lastname": "Tulone"
        },
        {
            "affiliation": "Department of Gynecology and Obstetrics, Azienda Ospedaliera San Gerardo, Fondazione Monza e Brianza per il Bambino e la Sua Mamma, Monza, Italy.",
            "firstname": "Annalisa",
            "initials": "A",
            "lastname": "Boneschi"
        },
        {
            "affiliation": "Department of Pediatrics, Azienda Ospedaliera San Gerardo, Universit\u00e0 degli Studi di Milano Bicocca, Fondazione Monza e Brianza per il Bambino e la Sua Mamma, Monza, Italy.",
            "firstname": "Nicoletta",
            "initials": "N",
            "lastname": "Masera"
        },
        {
            "affiliation": "Department of Pediatrics, Azienda Ospedaliera San Gerardo, Universit\u00e0 degli Studi di Milano Bicocca, Fondazione Monza e Brianza per il Bambino e la Sua Mamma, Monza, Italy.",
            "firstname": "Silvia",
            "initials": "S",
            "lastname": "Maitz"
        },
        {
            "affiliation": "Molecular Biology Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Auxologico Italiano, Cusano Milanino, Italy.",
            "firstname": "Anna Maria",
            "initials": "AM",
            "lastname": "Di Blasio"
        },
        {
            "affiliation": "Department of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Milan, Italy.\nDepartment of Clinical Sciences and Community Health, University of Milan, Milan, Italy.",
            "firstname": "Luca",
            "initials": "L",
            "lastname": "Persani"
        },
        {
            "affiliation": "Molecular Biology Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Auxologico Italiano, Cusano Milanino, Italy.\nDepartment of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Milan, Italy.",
            "firstname": "Fabiana",
            "initials": "F",
            "lastname": "Guizzardi"
        },
        {
            "affiliation": "Department of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Milan, Italy.",
            "firstname": "Raffaella",
            "initials": "R",
            "lastname": "Rossetti"
        }
    ],
    "conclusions": null,
    "copyrights": "Copyright \u00a9 2020 Cattoni, Spano, Tulone, Boneschi, Masera, Maitz, Di Blasio, Persani, Guizzardi and Rossetti.",
    "doi": "10.3389/fendo.2020.540683\n10.1093/humrep/dex089\n10.1056/NEJMcp0808697\n10.1007/s00404-010-1815-4\n10.1007/s10815-014-0342-9\n10.1016/j.mce.2015.05.005\n10.1111/j.1399-0004.2009.01359.x\n10.1038/nmeth0410-248\n10.1038/nprot.2015.123\n10.1093/nar/gky1016\n10.1016/j.tem.2008.08.002\n10.1093/molehr/gah056\n10.1097/GME.0000000000000340\n10.1186/s13048-018-0413-0\n10.1111/cge.13486\n10.1016/j.tem.2018.07.002\n10.1210/jc.2014-2761\n10.1007/s12020-017-1459-2\n10.1093/humrep/dew271\n10.1086/519496\n10.1093/humrep/dem278\n10.1056/NEJMoa0806228",
    "journal": "Frontiers in endocrinology",
    "keywords": [
        "FIGLA gene",
        "NOBOX gene",
        "NR5A1 gene",
        "antimullerian hormone (AMH)",
        "fertility",
        "gene variants",
        "gonadal dysgenesis (GD)",
        "primary ovarian insufficiency (POI)"
    ],
    "methods": null,
    "publication_date": "2020-10-27",
    "pubmed_id": "33101191\n28505269\n19196677\n21188402\n25227694\n25960166\n20345472\n8178824\n20354512\n26633127\n30371827\n18805020\n15044608\n25314148\n29914564\n30474133\n30078697\n25514101\n29067606\n27836978\n17701902\n17940071\n19246354",
    "results": null,
    "title": "The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report.",
    "xml": "<Element 'PubmedArticle' at 0x788502dbbbf0>"
}