1. Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature
- Author
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Leandra Steinmetz, Jean C Sievert, Paula A Saito, Octavio O Santos-Neto, Tais Nitsch Mazzola, Helena Fabbri-Scallet, Társis Paiva Vieira, Juliana Gabriel Ribeiro de Andrade, Nilma Lúcia Viguetti-Campos, Marina Mariano, Maricilda Palandi de Mello, Andréa Trevas Maciel-Guerra, Marianna Ferreira, Gil Guerra-Júnior, Mara Sanches Guaragna, Antonia Paula Marques-de-Faria, Durval Damiani, and Ana Paula Santos
- Subjects
Gynecology ,endocrine system ,Embryology ,medicine.medical_specialty ,Down syndrome ,medicine.drug_class ,Endocrinology, Diabetes and Metabolism ,Gonadal dysgenesis ,Aneuploidy ,Biology ,medicine.disease ,Androgen ,Turner syndrome ,medicine ,Congenital adrenal hyperplasia ,Disorders of sex development ,Klinefelter syndrome ,Developmental Biology - Abstract
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.
- Published
- 2020