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INTRODUCTION: Thyroid dysfunction during gestation impacts on maternal-fetal health and may influence the neurocognitive development of the child. Thyroid physiology changes during pregnancy and requires the establishment of specific reference levels per trimester and for each population and method. The objectives of our study were to analyse thyroid function throughout pregnancy and to establish reference levels for TSH and T4L in each trimester for our population and methodology. MATERIAL AND METHODS: Prospective analytical study of 598 pregnant women from March 2018 to October 2020. TSH, T4L, T3L, ATPO and ATG were determined in all of them. A total of 151 pregnant women were excluded due to positive thyroid immunity, previous thyroid disease in treatment with levothyroxine, twin pregnancy, diagnosis of hypothyroidism and hyperthyroidism in the request or absence of some of the parameters studied, with a reference population of 447 pregnant women. RESULTS: The reference levels for TSH were 0.07-3.14mIU/L for the first, 0.66-3.21mIU/L for the second and 0.52-2.97mIU/L for the third trimester. Reference levels for T4L were 0.81-1.19ng/dL for the first, 0.71-1.07ng/dL for the second and 0.69-1.06ng/dL for the third trimester. CONCLUSIONS: The reference levels for TSH and T4L obtained in this study differ from those used for the general population, which may have led to misclassification errors and unnecessary treatment in pregnant women.
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Femenino , Humanos , Persona de Mediana Edad , Hiperandrogenismo/complicaciones , Hiperandrogenismo/diagnóstico , Tumor de Células de Leydig/complicaciones , Tumor de Células de Leydig/diagnóstico , Inmunohistoquímica/métodos , Hipertensión/complicaciones , Testosterona/análisis , Ecocardiografía Doppler , Tomografía Computarizada de Emisión/instrumentación , Tomografía Computarizada de Emisión/métodos , Cateterismo/métodos , Cateterismo , Hiperplasia/complicaciones , HiperplasiaRESUMEN
OBJECTIVE: To determine the genetic basis of dominant early-onset diabetes mellitus in two families. PATIENTS AND METHODS: Molecular analysis by PCR sequencing of the promoter, the 5' untranslated region (UTR) and exons of both GCK and HNF1A genes was carried out in two families with clinically diagnosed dominant diabetes mellitus. RESULTS: The novel HNF1A c.-154_-160TGGGGGT mutation, located in the 5' UTR, was present in several members of the two families in the heterozygous state. Interestingly, the GCK p.Y61X mutation was also identified in three members of one of the families, and two of them carried both mutations in heterozygosis. To the best of our knowledge, this is the first report of the co-inheritance of GCK and HNF1A mutations and the coexistence of maturity-onset diabetes of the young (MODY) 2, MODY 3 and unusual MODY 2-3 genotypes in the same family. CONCLUSIONS: Carriers of both GCK and HNF1A mutations manifested a typical MODY 3 phenotype and showed that the presence of a second mutation in the GCK gene apparently did not modify the clinical outcome, at least at the time of this study. Our data show that co-inheritance of MODY 2 and MODY 3 mutations should be considered, at least in some cases, for accurate genetic testing.
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Diabetes Mellitus Tipo 2/genética , Predisposición Genética a la Enfermedad , Glucoquinasa/genética , Factor Nuclear 1-alfa del Hepatocito/genética , Mutación , Regiones no Traducidas 5' , Adolescente , Adulto , Secuencia de Bases , Estudios de Casos y Controles , Niño , Femenino , Estudios de Asociación Genética , Pruebas Genéticas , Genotipo , Heterocigoto , Humanos , Masculino , Modelos Genéticos , Datos de Secuencia Molecular , Conformación de Ácido Nucleico , Linaje , Fenotipo , Reacción en Cadena de la Polimerasa , Análisis de Secuencia de ADN , Resultado del Tratamiento , Adulto JovenRESUMEN
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