A New Compound Heterozygous Frameshift Mutation in the Type II 3 Beta-Hydroxysteroid Dehydrogenase Gene Causes Salt-Wasting 3 Beta-HSD Deficiency Congenital Adrenal Hyperplasia

    January 1996 in “ The Journal of Clinical Endocrinology & Metabolism ”
    L Zhang, Hala Sakkal-Alkaddour, Ying Chang, Xuan Yang, Songya Pang
    TLDR A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
    The study identified a new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene in a Pakistani female child with salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia. The child exhibited symptoms such as clitoral enlargement and salt-wasting adrenal crisis, and was treated with hormonal replacement therapy. Genetic analysis revealed a single nucleotide deletion at codon 318 in one allele and two nucleotide deletions at codon 273 in the other allele, leading to frameshift mutations and truncated proteins. These mutations were inherited from her parents and were also found in her siblings and paternal cousins, suggesting a familial pattern of the disorder. The study concluded that these genetic mutations caused the salt-wasting condition in the patient and likely affected her deceased siblings and cousins.
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