Resumen

MONTERO CAMACHO, Geraldine et al. Disorders of sex development with ambiguous genitalia in patients of genetics institute of La Paz - Bolivia. Period 2002-2012 clinical - genetic study. SCIENTIFICA [online]. 2014, vol.12, n.1, pp. 12-18. ISSN 1813-0054.

Introduction: Sexual differentiation is controlled complex, dynamic and genetically process leading to the formation of the male or female phenotype. Disorders of sexual differentiation (TDS) are due to a congenital condition, due to genetic defects, chromosomal, or phenotypic gonadal occurring during different stages of sexual differentiation. Objective: To investígate the genetic and clinical presentation of TDS in patients of the Institute of Genetics (IG) La Paz - Bolivia in the period 2002 -2012. Method and materials: The medical records belonging to patients with TDS or with ambiguous genitalia were reviewed. A total of 121 medical records were reviewed. 56 were discarded due to lack of data, not related to the subject diagnosis and absence of medical history. Results: The most frequent clinical features of ambiguous genitalia were: micropenis 5296, 32.396 hypospadias, undecended testes 30.896,18.596 clitoral hypertrophy. Found TDS: TDS 46, XY 47.696, TDS, XX 4096. TDS whit chromosomal abnormalities: Turner syndrome 6.296, Klinefelter syndrome 1.596, and chimerism 3-196. The sex assigned-karyotype discordance occurred in 30.796 of cases: individuáis with karyotype 46, XX male considered, individuáis 46, XY female considered, and cases of mosaicism. TDS had a frequency of 3-996 of all medical consultation in the Genetics Institute. Conclusión: TDS are a common congenital condition in our population, affecting the physical, psychological and social aspects of the patient who has it. So it is essential to know and diagnose for optimal treatment shall be multidisciplinary.

Palabras llave : Disorders of sex developmentl; ambiguous genitalia.