DISORDERS OF SEXUAL DEVELOPMENT
Disorders of Sex Development (DSD) are congenital conditions that are characterized by the mismatch of the external appearance of masculinity or femininity with the chromosomal constitution or gonadal sex, or by ambiguity or intermediate condition between phenotypes Male and female anatomical sex in an individual. The clinical phenotype is variable in presentation with a broad clinical spectrum ranging from genital ambiguity to attenuated forms such as mild hypospadias or unilateral cryptorchidism. Clinical classification in patients is difficult because the phenotypes are similar or almost identical and may have several etiologies.
Given the lack of clarity of the term, there is no certainty of the incidence of the conditions included. However, it has been estimated that its individual incidence is approximately 1 in 4,500-5,500 (4) and when considering all genital congenital anomalies, including cryptorchidism and hypospadias, the incidence can be from 1: 200 to 1: 300 (5) .
Although the genes involved in the activation of the testicular or ovarian differentiation pathways are known; In some cases this information is not sufficient to explain the particular phenotype of a patient. Different reports have shown that inactivating mutations (20%) of the genes involved in the pathways of sexual differentiation may be responsible for the altered phenotype. However, very little is known about the contribution epigenetic mechanisms can have in triggering these clinical pictures. Since 2015, the Institute of Human Genetics under the leadership of Dr. Adriana Rojas in conjunction with the Urology group of the Hospital Universitario San Ignacio have been implementing a research project funded by COLCIENCIAS in which the main objective is the genetic characterization And epigenetics of patients with disorders of sexual development. In this study cytogenetic and genetic studies are being complemented with transcriptional regulation of the expression of genes involved with sexual differentiation.
In Colombia, there are currently only two multidisciplinary care groups for patients with DDS, one of which is based at the San Ignacio University Hospital. This group consists of: urologists, endocrinologists, pediatric endocrinologists, geneticists, nurses and psychiatrists.
Within the framework of this project, two postgraduate and undergraduate students have participated with the completion of their degree work:
Mónica Molina: Cytogenetic Characterization of Patients with Sexual Development Disorders. Undergraduate Thesis / Bacteriology Program. PUJ.
Mary García Acero: Genetic and Epigenetic Characterization of Patients with Sexual Development Disorders. Promotion Work -Specialization in Clinical Genetics. PUJ.
YOUNG RESEARCHER: MARY GARCÍA ACERO. GENETIC AND EPIGENETIC CHARACTERIZATION OF NR5A1, SRY, SOX9, WNT4 AND DAX1 GENES IN PATIENTS WITH SEX DEVELOPMENTAL DISORDERS IN COLOMBIAN POPULATION.
Research Assistant: Laura Rey.
INSTITUTO DE GENÉTICA HUMANA
FACULTAD DE MEDICINA