Study of first -degree relatives of Cuban patients with congenital adrenal hyperplasia
Keywords:
Congenital adrenal hyperplasia, prenatal diagnosis, genetic counseling, family.Abstract
Introduction: The study of first-line relatives of patients with congenital adrenal hyperplasia (CAH) enriches the clinical and genetic characterization of the entity in Cuba and offers tools for genetic counseling and prenatal diagnosis.
Objectives: To identify clinical elements related to the entity in their first-degree relatives. Perform the molecular characterization of known mutations and, finally, the detection of patients and carriers.
Material and Methods: A descriptive, cross-sectional and observational study was conducted; based on point mutations found in previous research' in 31 patients. First-degree relatives of these patients were questioned in order to identify clinical manifestations and reproductive history related to CAH. Molecular research was carried out through a protocol based on polymerase chain reaction for the detection of five point mutations (Intron 2 (g.655C/A>G), Deletion 8pb, Q318X (g.1994C>T), I172N and P30L). Finally, 17 hydroxyprogesterone was determined in order to detect cases or possible carriers, which was done after molecular screening.
Results: The most frequent elements found were infertility, spontaneous abortions and hirsutism, although in low percentages. The diagnosis of allele carriers with severe mutations in relatives of the classical forms was established. The most frequent mutations observed were Intron 2 and Q318X.
Conclusions: The results obtained allow for personalized, differentiated and comprehensive genetic counselling, taking into account the needs and peculiarities of each family.Downloads
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