{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T08:15:25Z","timestamp":1783239325074,"version":"3.54.6"},"reference-count":23,"publisher":"Walter de Gruyter GmbH","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n To determine the frequency of selected MKRN3 variants and to investigate genotype\u2013phenotype associations in Uzbek children with central precocious puberty, with particular emphasis on sex-specific clinical, hormonal, and instrumental characteristics.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n This single-center study included 69 Uzbek children with CPP and 30 healthy controls (used primarily for assay validation). Targeted genotyping of three\n MKRN3<\/jats:italic>\n variants (c.1034G>A [p.Arg345His], c.1229G>A [p.Cys410Ter], and c.331G>T [p.Glu111Ter]) was performed using real-time PCR with TaqMan assays. Clinical, hormonal, skeletal, and ultrasonographic parameters were analyzed using non-parametric methods.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Selected\n MKRN3<\/jats:italic>\n variants were identified in 21.7\u202f% (15\/69) of this cohort of Uzbek children with CPP. The most frequent variant was c.1034G>A (13.0\u202f%), followed by c.1229G>A (8.7\u202f%); c.331G>T was not detected. Variant frequency was higher in boys (28.6\u202f%) than in girls (18.7\u202f%), without statistical significance. In girls, variant carriers had significantly smaller uterine and ovarian dimensions, larger dominant follicle diameter, and lower basal LH levels, while\u00a0bone age advancement and estradiol levels were comparable. In boys, variant carriers demonstrated higher testosterone levels, with no significant differences in gonadotropins, bone age advancement, or testicular volume.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Selected\n MKRN3<\/jats:italic>\n variants were present in 21.7\u202f% of this cohort of Uzbek children with CPP.\n MKRN3<\/jats:italic>\n -related CPP demonstrated genotype-specific morphological and endocrine features, particularly in girls. These findings suggest phenotypic heterogeneity and warrant confirmation in larger sequencing-based studies.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2026-0035","type":"journal-article","created":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T07:55:44Z","timestamp":1783238144000},"source":"Crossref","is-referenced-by-count":0,"title":["Genotype\u2013phenotype associations of\n MKRN<\/i>\n 3 variants in children with central precocious puberty: a single-center study from Uzbekistan"],"prefix":"10.1515","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3041-0268","authenticated-orcid":false,"given":"Zamira Yusufovna","family":"Khalimova","sequence":"first","affiliation":[{"name":"Republican Specialized Scientific and Practical Medical Center of Endocrinology Named After Academician Y.Kh. Turakulov , Tashkent , Uzbekistan"},{"name":"Department of Endocrinology , Pediatric Endocrinology , Tashkent State Medical University , Tashkent , Uzbekistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-8479-6629","authenticated-orcid":false,"given":"Dilafruz","family":"Ulug'bek qizi Uralova","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, Kazan Federal University, Jizzakh Branch , Jizzakh , Uzbekistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5462-8942","authenticated-orcid":false,"given":"Elbek Abdumannanovich","family":"Mamatkulov","sequence":"additional","affiliation":[{"name":"Children\u2019s National Medical Center , Tashkent , Uzbekistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-8199-1875","authenticated-orcid":false,"given":"Aziza","family":"Uktam kizi Abdullaeva","sequence":"additional","affiliation":[{"name":"Republican Specialized Scientific and Practical Medical Center of Endocrinology Named After Academician Y.Kh. Turakulov , Tashkent , Uzbekistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2756-7897","authenticated-orcid":false,"given":"Dilorom Sharipovna","family":"Kholova","sequence":"additional","affiliation":[{"name":"Republican Specialized Scientific and Practical Medical Center of Endocrinology Named After Academician Y.Kh. Turakulov , Tashkent , Uzbekistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-4562-6517","authenticated-orcid":false,"given":"Surayyo Otabekovna","family":"Mehmanova","sequence":"additional","affiliation":[{"name":"Republican Specialized Scientific and Practical Medical Center of Endocrinology Named After Academician Y.Kh. Turakulov , Tashkent , Uzbekistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-6866-6760","authenticated-orcid":false,"given":"Sevara Shuxrat qizi","family":"Anvarova","sequence":"additional","affiliation":[{"name":"Republican Specialized Scientific and Practical Medical Center of Endocrinology Named After Academician Y.Kh. Turakulov , Tashkent , Uzbekistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3260-1030","authenticated-orcid":false,"given":"Zulfiya Dadayevna","family":"Rasulova","sequence":"additional","affiliation":[{"name":"Head of the Central Consultative and Diagnostic Polyclinic No. 1 of the Main Medical Department under the Administration of the President of the Republic of Uzbekistan , Tashkent , Uzbekistan"},{"name":"Department of Therapy and Toxicology , Military Medical Academy of the Armed Forces of the Republic of Uzbekistan , Tashkent , Uzbekistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-9850-9249","authenticated-orcid":false,"given":"Nargiza Yusufovna","family":"Khalimova","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , Pediatric Endocrinology , Tashkent State Medical University , Tashkent , Uzbekistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,7,6]]},"reference":[{"key":"2026070507553687391_j_jpem-2026-0035_ref_001","doi-asserted-by":"crossref","unstructured":"Abreu, AP, Dauber, A, Macedo, DB, Noel, SD, Brito, VN, Gill, JC, et al.. 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