TLDR A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
The study described a novel case of female pseudohermaphroditism caused by a homozygous missense mutation in the GR gene, leading to glucocorticoid resistance. The patient, born with ambiguous genitalia, exhibited severe hypokalemia and high levels of ACTH, cortisol, androstenedione, testosterone, and 17-hydroxyprogesterone, which were inconsistent with classic congenital adrenal hyperplasia. Genetic analysis revealed a T to C substitution at nucleotide 1844 in exon 5 of the GR gene, resulting in a valine to alanine substitution at amino acid 571, significantly reducing receptor binding affinity and trans-activation activity. This case highlighted that pre- and postnatal virilization can occur in females with glucocorticoid resistance syndrome.
65 citations
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November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
