174 citations
,
July 2003 in “The Journal of Clinical Endocrinology & Metabolism” This study investigated genetic and phenotypic characteristics of androgen insensitivity syndrome in individuals with a 46,XY karyotype, documenting a range from complete to partial insensitivity.
67 citations
,
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.
17 citations
,
January 2011 in “Indian journal of dermatology, venereology, and leprology” This paper describes a rare case of keratosis follicularis spinulosa decalvans in a nine-year-old girl, a condition typically more severe in males due to its X-linked inheritance.
5 citations
,
March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” This case report describes an 8-year-old boy in Saudi Arabia diagnosed with IFAP syndrome, highlighting its distinct characteristics and distinguishing features from similar conditions, and notes successful genetic confirmation of the disorder.