Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature
-
Published:2020
Issue:1-6
Volume:14
Page:3-11
-
ISSN:1661-5425
-
Container-title:Sexual Development
-
language:en
-
Short-container-title:Sex Dev
Author:
Santos-Neto Octavio O., Mariano Marina H., Marques-de-Faria Antonia P., Andrade Juliana G. R.ORCID, 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
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.
Subject
Developmental Biology,Embryology,Endocrinology, Diabetes and Metabolism
Reference31 articles.
1. Ahmed SF, Achermann JC, Arlt W, Balen AH, Conway G, Edwards ZL, et al. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Clin Endocrinol (Oxf). 2011;75(1):12–26. 2. Andrade JGR, Andrade LALA, Guerra-Junior G, Maciel-Guerra AT. 45,X/46,XY ovotesticular Disorder of Sex Development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue. J Pediatr Endocrinol Metab. 2017;30(8):899–904. 3. Aydin C, Eris S, Yalcin Y, Sen Selim H. An interesting prenatal diagnosis: double aneuploidy. Case Rep Obstet Gynecol. 2013;2013:790286. 4. Bertapelli F, Agiovlasitis S, Machado MR, do Val Roso R, Guerra-Junior G. Growth charts for Brazilian children with Down syndrome: birth to 20 years of age. J Epidemiol. 2017;27(6):265–73. 5. Bianca S, Indaco L, Ingegnosi C, Giuffrida G, Papale ML, Stancanelli I, et al. Double aneuploidy mosaicism with Down-Klinefelter's syndrome. Eur J Med Genet. 2005;48(1):75–6.
|
|