TLDR A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
The study identifies a rare homozygous variant, p.Arg246Gln, in the SRD5A2 gene in two siblings with 46,XY disorders of sexual development (DSD) from a nonconsanguineous Indian family. This variant causes 5α-reductase deficiency, leading to elevated testosterone-to-dihydrotestosterone ratios and male pseudohermaphroditism. Despite identical genotypes, the siblings exhibit different phenotypes, indicating additional modifying factors. The study emphasizes the importance of a multidisciplinary approach, including genetic diagnosis, hormonal evaluation, and personalized management strategies, in managing DSD cases. It also highlights the effectiveness of exome sequencing in diagnosing DSDs and suggests topical DHT treatment for improving penile length in affected individuals.
19 citations
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May 2020 in “American journal of men's health” Testosterone therapy helps boys with hormone deficiencies develop normal male characteristics and grow properly.
39 citations
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April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
50 citations
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February 2013 in “Annals of Clinical Biochemistry” Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
38 citations
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October 2014 in “Current Opinion in Endocrinology, Diabetes and Obesity” 5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
111 citations
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August 2015 in “Reviews in Endocrine and Metabolic Disorders” 5α-reductase inhibitors may cause persistent sexual dysfunction and depression, needing more research on long-term effects.
5 citations
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January 2017 in “Endocrinology” Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
218 citations
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December 2011 in “Advances in Urology” The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
