Bergougnoux A, Gaspari L, Soleirol M, Servant N, Soskin S, Rossignol S, Wagner-Mahler K, Bertherat J, Sultan C, Kalfa N, Paris F
Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France.
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France.
Endocr Connect. 2023 Nov 8;12(12). doi: 10.1530/EC-23-0267. Print 2023 Dec 1.
Although hyperandrogenism is a frequent cause of consultation in adolescent girls, more severe forms with virilization must lead to suspicion of 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. We performed gene mutation screening by Sanger sequencing (all patients) and by next-generation sequencing (NGS) in patient #4. 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. This work underlines the importance of considering the hypothesis of 46,XY DSD in adolescent girls with unexplained virilization at puberty.
尽管高雄激素血症是青春期女孩前来咨询的常见原因，但出现更严重的男性化症状时必须怀疑肾上腺或卵巢肿瘤。然而，这些症状也可能提示46,XY性发育障碍（DSD）。在此，我们描述了四名因青春期男性化前来就诊的青春期女孩，我们诊断她们患有46,XY DSD。我们通过桑格测序法（对所有患者）和二代测序法（对患者4）进行基因突变筛查。我们在患者1和患者2中鉴定出新的杂合NR5A1基因变异，在患者3中鉴定出纯合SRD5A2基因缺失。患者4在儿童期被诊断为完全性雄激素不敏感；然而，由于青春期出现不寻常的男性化症状，我们通过二代测序法完成基因分析，结果显示有两个杂合HSD17B3变异。这项工作强调了对于青春期出现不明原因男性化的青春期女孩，考虑46,XY DSD这一假设的重要性。
