20 citations
,
December 2000 in “Fertility and Sterility” This study found that the N363S variant of the glucocorticoid receptor was rare among women with PCOS and did not significantly contribute to genetic risk for PCOS or adrenal androgen excess.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
62 citations
,
August 2014 in “BMC Endocrine Disorders” This review summarizes the recent advances in molecular mechanisms influencing tissue sensitivity to glucocorticoids, emphasizing novel mutations and new information on the glucocorticoid receptor's circadian rhythm and ligand-induced repression, but reports no new results.
197 citations
,
June 2009 in “American journal of human genetics” This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
15 citations
,
April 2017 in “Hormones” This review discusses the roles of glucocorticoids and glucocorticoid receptors, and it explores potential genetic and non-genetic causes of glucocorticoid resistance or hypersensitivity syndromes, reporting no new clinical results.