Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed-up?

CONCLUSION: This study emphasizes the need to identify and follow-up 45,X/46,XY patients born with normal male phenotype until adulthood, as they present similar prognosis than those born with severe genital anomalies. Currently, most patients are diagnosed in adulthood with azoospermia, consistent with our observations of decreased testicular function at the end of puberty. Early management of these patients may lead to fertility preservation strategies.
PMID: 29973376 [PubMed - as supplied by publisher]

Source: European Journal of Endocrinology - July 4, 2018 Category: Endocrinology Authors: Dumeige L, Chatelais L, Bouvattier C, De Kerdanet M, Capucine H, Esteva B, Samara-Boustani D, Zénaty D, Nicolino M, Baron S, Metz C, Catherine NS, Dupuis C, Leger J, Siffroi JP, Donadille B, Christin-Maitre S, Carel JC, Coutant R, Martinerie L Tags: Eur J Endocrinol Source Type: research