Etiology, histology, and long-term outcome of bilateral testicular regression: a large Belgian series

STUDY QUESTION What is the long-term outcome of individuals born with bilateral testicular regression (BTR) in relation to its underlying etiology?SUMMARY ANSWER Statural growth and pubertal development are adequate with incremental doses of testosterone replacement therapy (TRT); however, penile growth is often suboptimal, especially in those with a suspected genetic etiology (i.e. heterozygous DHX37 variants) or a micropenis at birth.WHAT IS KNOWN ALREADY BTR is a rare and poorly understood condition. Although a vascular origin has been postulated, heterozygous missense variants in DHX37 hav... Mehr ...