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Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature
- Source :
- Sexual Development. 14:3-11
- Publication Year :
- 2020
- Publisher :
- S. Karger AG, 2020.
-
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.
- 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
Subjects
Details
- ISSN :
- 16615433 and 16615425
- Volume :
- 14
- Database :
- OpenAIRE
- Journal :
- Sexual Development
- Accession number :
- edsair.doi.dedup.....b0c509b4d27a2e5b00d5ae95e3c43705