Journal of pediatric endocrinology & metabolism : JPEM · 2026
Genotype-phenotype associations of MKRN3 variants in children with central precocious puberty: a single-center study from Uzbekistan.
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Khalimova Zamira Yusufovna, Ulug'bek Qizi Uralova Dilafruz, Mamatkulov Elbek Abdumannanovich, Uktam Kizi Abdullaeva Aziza, Kholova Dilorom Sharipovna, Mehmanova Surayyo Otabekovna, Anvarova Sevara Shuxrat Qizi, Rasulova Zulfiya Dadayevna, Khalimova Nargiza Yusufovna
Аннотация
OBJECTIVES: To determine the frequency of selected MKRN3 variants and to investigate genotype-phenotype associations in Uzbek children with central precocious puberty, with particular emphasis on sex-specific clinical, hormonal, and instrumental characteristics.
METHODS: This single-center study included 69 Uzbek children with CPP and 30 healthy controls (used primarily for assay validation). Targeted genotyping of three MKRN3 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.
RESULTS: Selected MKRN3 variants were identified in 21.7 % (15/69) of this cohort of Uzbek children with CPP. The most frequent variant was c.1034G>A (13.0 %), followed by c.1229G>A (8.7 %); c.331G>T was not detected. Variant frequency was higher in boys (28.6 %) than in girls (18.7 %), without statistical significance. In girls, variant carriers had significantly smaller uterine and ovarian dimensions, larger dominant follicle diameter, and lower basal LH levels, while bone 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.
CONCLUSIONS: Selected MKRN3 variants were present in 21.7 % of this cohort of Uzbek children with CPP. MKRN3-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.
METHODS: This single-center study included 69 Uzbek children with CPP and 30 healthy controls (used primarily for assay validation). Targeted genotyping of three MKRN3 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.
RESULTS: Selected MKRN3 variants were identified in 21.7 % (15/69) of this cohort of Uzbek children with CPP. The most frequent variant was c.1034G>A (13.0 %), followed by c.1229G>A (8.7 %); c.331G>T was not detected. Variant frequency was higher in boys (28.6 %) than in girls (18.7 %), without statistical significance. In girls, variant carriers had significantly smaller uterine and ovarian dimensions, larger dominant follicle diameter, and lower basal LH levels, while bone 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.
CONCLUSIONS: Selected MKRN3 variants were present in 21.7 % of this cohort of Uzbek children with CPP. MKRN3-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.