46 citations
,
October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
May 2021 in “Journal of Advances in Internal Medicine” A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
2 citations
,
September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.