In adolescent girls, virilization at puberty may reveal a 46,XY disorder of sexual development.

OBJECTIVE: Although hyperandrogenism is a frequent cause of consultation in adolescent girls, more severe forms with virilization must lead to suspect an adrenal or ovarian tumor. However, they may also reveal a 46,XY disorder of sexual development (DSD). Here, we describe four adolescent girls referred for pubertal virilization and in whom we diagnosed a 46,XY DSD.

METHODS: We performed gene mutation screening by Sanger sequencing and by next generation sequencing (NGS) in one patient.

RESULTS: We identified new heterozygous NR5A1 gene variants in patients #1 and #2 and a homozygous SRD5A2 gene deletion in patient #3. Patient #4 received a diagnosis of complete androgen insensitivity in childhood; however, due the unusual pubertal virilization, we completed the gene analysis by NGS that revealed two heterozygous HSD17B3 variants.

CONCLUSION: This work underlines the importance to consider the hypothesis of 46,XY DSD in adolescent girls with unexplained pubertal virilization.