98 citations
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July 1983 in “Journal of Steroid Biochemistry” This study in the Arab population of Gaza described pseudohermaphroditism due to 17β-HSD deficiency, where individuals showed marked masculinization after puberty despite inadequate androgen proportions.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.
46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.
21 citations
,
December 1977 in “Journal of pediatric surgery” The authors concluded that most male pseudohermaphrodites should be raised as females, recommending early gender assignment and appropriate alterations to better support coping and development.
8 citations
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January 1991 in “European Urology” This study found that the 5α-steroid metabolite profile in men with inherited 5α-reductase deficiency is similar to those taking the drug finasteride, suggesting the gene affects multiple steroid substrates.