[A follow-up study of 10 Uyghur children with 11β-hydroxylase deficiency in the Xinjiang region].

Authors

Xiao-Yi Wang, Yan-Fei Luo, Yi-Ru Chen, Kai-Qi Wei, A-Li-Ya Abulajiang, Mi-Re-Gu-Li Maimaiti

Published in

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. Volume 28. Issue 8. Pages 972-977. Aug 15, 2026.

Abstract

To study the clinical characteristics, treatment outcomes, and CYP11B1 gene mutation spectrum in Uyghur children with 11β-hydroxylase deficiency (11β-OHD) in Xinjiang, and to explore the ethnic-specific features of genotypes and clinical phenotypes.
Clinical, laboratory, genetic, and follow-up data of 10 Uyghur children diagnosed with 11β-OHD at the Department of Pediatrics of the First Affiliated Hospital of Xinjiang Medical University from September 2015 to September 2025 were retrospectively analyzed.
The median age at diagnosis was 3.85 years; 7 patients were 46,XX (including 3 raised as males) and 3 were 46,XY; parental consanguinity was observed in 4 cases. All patients had elevated adrenocorticotropic hormone, testosterone, and 17α-hydroxyprogesterone levels. Eight children had advanced bone age. Four children had hypertension, with a median age at onset of 8.8 years. Eight distinct CYP11B1 variants were identified; homozygous variants predominated (8/10). Three novel variants were detected, among which c.715_731del (p.F239fs) was the most frequent (3/10). After glucocorticoid and symptomatic treatment, blood pressure in the 4 hypertensive patients and endocrine hormone levels in all 10 patients improved significantly (P<0.05), while the height standard deviation score for bone age showed no significant change (P>0.05).
Uyghur children with 11β-OHD in Xinjiang may have a unique CYP11B1 mutation spectrum. The high prevalence of homozygous variants likely relates to the high rate of consanguineous marriage in this population. The c.715_731del variant may represent a founder mutation. Advanced bone age and hyperandrogenemia are key clues for early diagnosis.

PMID:
42608305
Bibliographic data and abstract were imported from PubMed on 18 Aug 2026.

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