[Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia].

Background: Hypohidrotic ectodermal dysplasia (HED) is a genetic skin condition presenting as hypohidrosis, hypodontia, and hypotrichosis, resulting in an important burden for affected families. The most common form of HED has an X-linked inheritance and female carriers have the option of prenatal or preimplantation genetic testing (PGT) to avoid transmission of the disease. A combined PGT for a mutation in EDA gene and aneuploidies in a Mexican carrier of X-linked HED is reported. Materials and Methods: Ovarian stimulation and assisted reproduction procedures were performed in a private academic medical center. PGT for a novel c.707-1G>A (rs886039466) mutation in EDA gene and chromosomal aneuploidies was performed by massive parallel and Sanger sequencing. Results: In the first PGT, the transfer of two blastocysts did not result in a pregnancy. An accumulative stimulation approach was decided to improve pregnancy chances for a second PGT procedure. Three ovarian stimulations were performed and 10 blastocysts coming from fresh and vitrified oocytes were genetically analyzed. A single embryo transfer produced a healthy non-carrier euploid girl. Discussion: PGT combining aneuploidy and mutation analyses is an alternative for female carriers of X-linked and other Mendelian disorders in Latin-American countries. In the era of genomic and personalized medicine, medically assisted reproduction techniques, such as PGT, are shifting from only infertility to preventive genetics.

[Comparison fracture risk calculated by FRAX tool]. / Comparación del riesgo de fractura calculado con la herramienta FRAX con y sin densitometría ósea en un gruop de mujeres mexicanas.

BACKGROUND: The FRAX tool allows calculate the 10 year probability of fracture risk in men and women. OBJECTIVE: To compare the 10 years fracture risk calculated with the FRAX tool using or not bone densitometry. MATERIAL AND METHODS: A prospective, cross-sectional, open a comparative study was done with 40-80-year-old women, who were evaluated with bone densitometry. To calculate the fracture risk the FRAX tool was used with and without bone densitometry in each patient. Both results were compared with Mann-Whitney U test. RESULTS: The mean age was 54.2 ± 8.7 years. The median of the FRAX calculated risks without using bone densitometry was for major fracture 2.4 (1-12) and hip 0.3 (0-5.2). The calculated risks using bone densitometry was for major fracture 2.3 (1.2-11) and for hip 0.2 (0-3.6), without statistically significant differences among them. The calculated T score with FRAX was -1.0 (-2.7 ± 1.9). CONCLUSIONS: The results obtained with the FRAX tool using or not bone densitometry were similar. These findings will allow using this instrument in a greater number of patients.