Description:

Disorders of Sex Development (DSD) are congenital conditions characterized by a mismatch between external appearance (masculinity or femininity) and chromosomal constitution or gonadal sex. These manifestations are related to alterations at the level of gonadal development and the urinary-genital tract, and even the reproductive-endocrine system. Among the causes of said manifestations are those of genetic origin, which are caused by chromosomal abnormalities, particularly of the sexual chromosomes, or by the appearance of genes involved in the embryonic development of the sexual organs; as well as by anomalies that generate an interruption of the synthesis of specific hormones.

Relevance:

The group of DSD linked to alterations in the number of chromosomes includes the Klinefelter syndrome (47,XXY) (KS), and the Turner syndrome (45,X) (TS). Previous reports mention that sex chromosome aneuploidies directly impact genes, transcriptional factors, and epigenetic mechanisms that delay gene expression.

Conclusions:

There are few comparative molecular studies between patients with TS or KS in the literature. These studies are essential to understand the genetic processes that are related to the development of the pathologies of patients with these conditions, and thus, contribute to the improvement of the diagnosis, treatment and medical advice of TS or KS patients, directly impacting their quality of life. This article presents an updated review of DSD associated with sexual chromosomes, specifically TS and KS.

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