Genotype-phenotype associations of MKRN 3 variants in children with central precocious puberty: a…

Cohort studyJournal of pediatric endocrinology & metabolism : JPEM· Aug 2026

Genotype-phenotype associations of MKRN 3 variants in children with central precocious puberty: a single-center study from Uzbekistan.

Zamira Yusufovna Khalimova, Dilafruz Ulug'bek Qizi Uralova, Elbek Abdumannanovich Mamatkulov … Nargiza Yusufovna Khalimova

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Pediatric Endocrinology & GrowthCohort studyQ3IF 1.1

MKRN3 variants found in 21.7% of Uzbek children with central precocious puberty

Genotype-phenotype associations of MKRN 3 variants in children with central precocious puberty: a single-center study from Uzbekistan.

Zamira Yusufovna Khalimova … Nargiza Yusufovna Khalimova

Journal of pediatric endocrinology & metabolism · Aug 2026 · Q3 in Pediatrics

Purpose

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).

n = 69 Uzbek children with CPP

Results

about 1 in 5 uzbek children with CPP carried an MKRN3 variant

28.6%

Boys

18.7%

Girls

More results

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.

More results

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.

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Conclusion · 1 of 2

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.

Conclusion · 2 of 2

These findings suggest phenotypic heterogeneity and warrant confirmation in larger sequencing-based studies.

Genotype-phenotype associations of MKRN 3 variants in children with central precocious puberty: a single-center study from Uzbekistan.

Genotype-phenotype associations of MKRN 3 variants in children with central precocious puberty: a single-center study from Uzbekistan.

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