67 citations
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April 1988 in “The Journal of Clinical Endocrinology & Metabolism” This study describes a family with X-linked gynecomastia and undervirilization in men, finding a subtle androgen receptor abnormality that may not always lead to infertility despite androgen resistance.
46 citations
,
July 1988 in “Journal of The American Academy of Dermatology” This review discusses various skin lesions associated with endocrinologic disorders such as Cushing's syndrome and adrenal insufficiency, and it reports no new clinical results.
January 1995 in “Adolescent and pediatric gynecology” This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.
1 citations
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January 2008 in “touchREVIEWS in Endocrinology” Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
65 citations
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December 1986 in “The Journal of Clinical Endocrinology & Metabolism” This study concluded that a 26-year-old woman had autosomal dominantly inherited hereditary cortisol insensitivity, leading to increased adrenocortical cortisol and androgen secretion, which caused clinical symptoms unlike in her male relatives.