Santos-Neto Octavio O, Mariano Marina H, Marques-de-Faria Antonia P, Andrade Juliana G R, Vieira Tarsis A P, Viguetti-Campos Nilma L, Dos Santos Ana P, Mello Maricilda P, Mazzola Tais N, Guaragna Mara S, Fabbri-Scallet Helena, Damiani Durval, Steinmetz Leandra, Ferreira Marianna R, Saito Paula A, Sievert Jean C, Maciel-Guerra Andrea T, Guerra-Junior Gil
Interdisciplinary Group for the Study of Gender Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Brazil.
Department of Medical Genetics and Genomic Medicine, FCM, UNICAMP, Campinas, Brazil.
Sex Dev. 2020;14(1-6):3-11. doi: 10.1159/000513415. Epub 2021 Mar 2.
In this study, we present 3 cases of Down syndrome (DS) associated with disorders/differences of sex development (DSD) and review the literature on this topic. Case 1: 1-year-old child with male genitalia and DS phenotype, 47,XX,+21 karyotype and testicular DSD. Case 2: 11-month-old child with male genitalia and few DS dysmorphisms, 45,X/47,XY,+21 karyotype, and mixed gonadal dysgenesis. Case 3: 4-month-old child with female genitalia and DS phenotype, 47,XY,+21 karyotype and XY complete gonadal dysgenesis. In the literature, among 188 patients, 107 (57%) had Klinefelter syndrome and 61 (33%) Turner syndrome, 12 (6%) had mixed gonadal dysgenesis, 2 (1%) had partial androgen insensitivity, 2 (1%) ovotesticular DSD, and the others had congenital adrenal hyperplasia, XY partial gonadal dysgenesis, XY complete gonadal dysgenesis, and complete androgen insensitivity (1 case each). A typical DS phenotype was found in all individuals of the revision, with the exception of one case, but DSD features were not always reported. In conclusion, the association of DS with sex chromosome DSD is the most frequently observed, whereas associations with 46,XX and 46,XY DSD is extremely rare.
在本研究中，我们报告了3例与性发育障碍/差异（DSD）相关的唐氏综合征（DS）病例，并回顾了关于该主题的文献。病例1：一名1岁儿童，具有男性生殖器和DS表型，核型为47,XX,+21，患有睾丸DSD。病例2：一名11个月大的儿童，具有男性生殖器且几乎没有DS畸形，核型为45,X/47,XY,+21，患有混合性性腺发育不全。病例3：一名4个月大的儿童，具有女性生殖器和DS表型，核型为47,XY,+21，患有XY型完全性腺发育不全。在文献中，188例患者中，107例（57%）患有克兰费尔特综合征，61例（33%）患有特纳综合征，12例（6%）患有混合性性腺发育不全，2例（1%）患有部分雄激素不敏感，2例（1%）患有卵睾型DSD，其他患者分别患有先天性肾上腺皮质增生、XY型部分性腺发育不全、XY型完全性腺发育不全和完全雄激素不敏感（各1例）。除1例患者外，所有纳入研究的个体均具有典型的DS表型，但并非总是报告有DSD特征。总之，DS与性染色体DSD的关联最为常见，而与46,XX和46,XY DSD的关联极为罕见。
