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Up-to-date\u2009&gt;\u20092000 genetic tests have been performed for the diagnosis of inherited rare endocrine disorders. The major clinical entities included Congenital Adrenal Hyperplasia (CAH) due to pathogenic variants in <jats:italic>CYP21A2<\/jats:italic> gene and Multiple Endocrine Neoplasia (MEN) type 2 due to pathogenic variants in the <jats:italic>RET proto-oncogene<\/jats:italic>. Other rare and novel pathogenic variants in <jats:italic>ANOS1, WDR11, FGFR1, RNF216<\/jats:italic>, and <jats:italic>CHD7<\/jats:italic> genes were also found in patients with Congenital Hypogonadotropic Hypogonadism. Interestingly, a few patients with Disorders of Sexual Differentiation (DSD) shared rare pathogenic variants in the <jats:italic>SRD5A2<\/jats:italic>, <jats:italic>HSD17B3<\/jats:italic> and <jats:italic>HSD3B2<\/jats:italic> while patients with Glucose and Insulin Homeostasis carried theirs in <jats:italic>GCK<\/jats:italic> and <jats:italic>HNF1A<\/jats:italic> genes. Lastly, <jats:italic>MGFT<\/jats:italic> over the last few years has established an esteemed diagnostic and research program on premature puberty with emphasis on the implication of <jats:italic>MKRN3<\/jats:italic> gene on the onset of the disease and the identification of other prognosis biomarkers.<\/jats:p><jats:p>As an Endo-ERN member <jats:italic>MGFT<\/jats:italic> department belongs to this large European network and holds the same humanistic ideals which aim toward the improvements of health care for patients with rare endocrine conditions in respect to improved and faster diagnosis.<\/jats:p>","DOI":"10.1186\/s13023-024-03171-4","type":"journal-article","created":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T14:01:54Z","timestamp":1713448914000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center"],"prefix":"10.1186","volume":"19","author":[{"given":"Vassos","family":"Neocleous","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pavlos","family":"Fanis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meropi","family":"Toumba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicos","family":"Skordis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1377-211X","authenticated-orcid":false,"given":"Leonidas A.","family":"Phylactou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,4,18]]},"reference":[{"issue":"1","key":"3171_CR1","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1186\/s13023-020-01420-w","volume":"15","author":"T Eggermann","year":"2020","unstructured":"Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, et al. 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