Author

Ya-Nan Zhang

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Case report Open access Sep 2026

Extended genotype–phenotype spectrum of 17α-hydroxylase/17,20-lyase deficiency: a nine-case series featuring a novel mutation, suspected TART-like lesions, and multisystem involvement

Context 17α-hydroxylase/17,20-lyase deficiency (17-OHD), a rare congenital adrenal hyperplasia driven by biallelic CYP17A1 variants, shows extensive clinical and molecular heterogeneity; data on rare phenotypes and genotype–phenotype patterns are scarce. Objective To characterize clinical, hormonal, gonadal pathologica...

He-Meng Chong, Yu-Tong Fu, Xuan Zhang et al. · Frontiers in Endocrinology · 0 citations

Sep 2026

A rare germline TXNIP missense mutation may contribute to the genesis of Familial ovarian mature teratoma in human.

Findings establish TXNIP as the first functional candidate susceptibility gene for this phenotype and connect inherited susceptibility to ubiquitin-dependent protein turnover, GLUT1-driven metabolic reprogramming, and PI3K/mTOR-dominant follicular signaling.

Ya-Nan Zhang, Yan Li, Ya-Kun Liu et al. · Molecular and Cellular Endoc... · 0 citations