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Updated: Jan 15, 2026

A Novel Method: Super-selective Adrenal Venous Sampling
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X-linked Adrenal Hypoplasia Congenita Patients Exhibiting Phenotypic Variability

In Hwa Jeong, Sae Jin Kim, Jae Ho Yoo

    Clinical Laboratory
    |October 13, 2025
    PubMed

    Insights

    X-linked adrenal hypoplasia congenita (X-AHC) is a rare genetic disorder. This study identifies a novel NR0B1 gene variant causing X-AHC with varied symptoms, including normal pubertal development in some cases.

    Area of Science:

    • Genetics
    • Endocrinology
    • Pediatrics

    Background:

    • X-linked adrenal hypoplasia congenita (X-AHC) is a hereditary disorder.
    • It results from pathogenic NR0B1 gene variants, leading to primary adrenal insufficiency and hypogonadotropic hypogonadism.
    • Four male patients from three families were diagnosed with X-AHC.
    Abstract

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