Mirkka Hiort, Julia Rohayem, Regine Knaf, Sandra Laurentino, Agnethe Berglund, Claus H Gravholt, Jörg Gromoll, Joachim Wistuba
BACKGROUND: A subtype of Disorders of Sex Development (DSD) in individuals with a 46,XX karyotype who are phenotypically male is classified as testicular DSD (46,XX TDSD). These individuals develop testes but are infertile due to germ cell loss. However, little is known about their testicular architecture. METHODS: We analyzed biopsies of four SRY positive 46,XX TDSD men for testicular architecture, Sertoli (SCs) and Leydig cells (LCs). These were compared with biopsies of men with normal spermatogenesis (NS, n=4), men with Klinefelter syndrome, 47 XXY, (KS, n=4), and men with AZF deletion (AZF, n=5)...
February 6, 2023: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation