da Cunha Gabriela Corassa Rodrigues, de Souza Vanessa Sodré, Von Zuben Marcus, Córdoba Mara Santos, Soares Mayra Veloso Ayrimoraes, Bonadio Raphael Severino, de Oliveira Daniela Mara, de Oliveira Silviene Fabiana, Araújo Juliana Forte de Mazzeu, Pic-Taylor Aline
Universidade de Brasília, Faculdade de Ciências da Saúde, Programa de Pós-graduação em Ciências da Saúde, Brasília, DF, Brazil.
Universidade de Brasília, Faculdade de Medicina, Laboratório de Genética Clínica, Brasília, DF, Brazil.
Glob Med Genet. 2025 Feb 4;12(2):100039. doi: 10.1016/j.gmg.2025.100039. eCollection 2025 Jun.
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by the congenital absence of the uterus and vagina in females with 46, XX karyotype. The genetic etiology remains poorly understood.
We described a 29-year-old female patient with a main complaint of primary amenorrhea. The MRKHS diagnosis was confirmed, and molecular analysis revealed a 7q11.23 microduplication in the proband that was shown to be inherited from her mother. In the literature, müllerian malformations have been reported in only a few cases of 7q11.23 microduplication. However, the abnormalities observed in our patient have not been described previously. To the best of our knowledge, this is the first documented case of a patient with the coexistence of 7q11.23 microduplication syndrome and MRKHS.
DISCUSSION/CONCLUSION: Identification of the 7q11.23 duplication could suggest a new candidate region for MRKHS and add to the already described signs of 7q11.23 microduplication syndrome.
迈耶-罗基坦斯基-库斯特-豪泽综合征（MRKHS）的特征是46, XX核型的女性先天性子宫和阴道缺失。其遗传病因仍知之甚少。
我们描述了一名29岁的女性患者，主要症状为原发性闭经。MRKHS诊断得到证实，分子分析显示先证者存在7q11.23微重复，且该微重复遗传自其母亲。在文献中，仅在少数7q11.23微重复病例中报道过苗勒管畸形。然而，我们患者中观察到的异常情况此前尚未有描述。据我们所知，这是首例记录在案的同时存在7q11.23微重复综合征和MRKHS的患者。
讨论/结论：7q11.23重复的鉴定可能提示MRKHS的一个新候选区域，并补充已描述的7q11.23微重复综合征体征。
