Seguimiento del hijo de madre con patología tiroidea autoinmune. ¿Qué no debemos cribar? / Follow-up of infants born to mothers with autoinmune thyroid disease. What should not be screened?

Introducción: La patología tiroidea es un problema frecuente en las mujeres embarazadas. Su etiología suele ser autoinmune siendo la tiroiditis de Hashimoto y la enfermedad de Graves las entidades principales. A pesar de las posibles alteraciones hormonales y del paso transplacentario de anticuerpos estimulantes, la realización de un cribado neonatal específico no ha demostrado su utilidad en el neonato. Pacientes y métodos: Estudio prospectivo (noviembre de 2013-diciembre de 2016) de los hijos de madre con patología tiroidea autoinmune nacidos en un hospital universitario nivel III. Los recién nacidos se seleccionaron en maternidad. Se excluyeron los casos de asfixia perinatal. Los datos se recogieron de las historias clínicas de madres y recién nacidos. Resultados: Se incluyeron 191 recién nacidos. El 90% de las madres estaban diagnosticadas de hipotiroidismo autoinmune, de cuyos hijos solo un 5,8% tuvo alguna alteración analítica tratándose de leves ascensos de tirotropina, con normalización al mes de vida, no correlacionándose con los niveles de anti-TPO. Se diagnosticó una hipertirotropinemia transitoria que precisó tratamiento durante el primer año de vida. El 36,8% de los hijos de madre con Graves tuvo algún control analítico alterado en los primeros 7 días de vida, no diagnosticándose ningún caso de hipertiroidismo y solo una hipertirotropinemia transitoria. Conclusiones: La experiencia de nuestro centro en el manejo del cribado neonatal tiroideo muestra un elevado número de controles analíticos con un escaso rendimiento diagnóstico. No encontramos relación entre niveles de anticuerpos anti-TPO y disfunción tiroidea. Apoyamos las recomendaciones de mantener el cribado neonatal universal como única exploración en los hijos de madre hipotiroidea

Introduction: Thyroid dysfunction is a common problem in pregnant women. It is usually of an autoimmune origin, with Hashimotós thyroiditis and Graveś disease being the most common conditions. Although hormonal changes and transplacental antibody transfer may occur, specific neonatal screening has not been shown to be useful. Patients and method: A prospective study of newborns of women with autoimmune thyroid disease born at a level III university hospital (November 2013-December 2016). Neonates were selected during their stay at the maternity. Babies with perinatal asphyxia were excluded. Data were collected from the clinical histories of mothers and newborns. Results: A total of 191 neonates were included. Ninety percent of mothers had been diagnosed with autoimmune hypothyroidism. Only 5.8% of newborns had some laboratory disorder, consisting of slightly increased thyroid-stimulating hormone levels, which returned to normal at the age of one month and did not correlate to thyroid peroxidase antibody levels. Transient hyperthyrotropinemia was diagnosed in one newborn and required thyroxin treatment during the first year of life. Among newborns from mothers with Graveś disease, 36.8% had some abnormal laboratory value during the first 7 days of life, but there were no cases of hyperthyroidism and only one of transient hyperthyrotropinemia. Conclusions: Experience at our hospital in screening of newborns from hypothyroid mothers reveals a high number of laboratory controls with a poor diagnostic yield. No relationship was found between thyroid peroxidase antibody levels and thyroid dysfunction. We support the recommendations to continue testing serum thyroid-stimulating hormone and FT4 levels at 48h of life in newborns of mothers with autoimmune hypothyroidism

Follow-up of infants born to mothers with autoinmune thyroid disease. What should not be screened? / Seguimiento del hijo de madre con patología tiroidea autoinmune. ¿Qué no debemos cribar?

INTRODUCTION: Thyroid dysfunction is a common problem in pregnant women. It is usually of an autoimmune origin, with Hashimotós thyroiditis and Graves disease being the most common conditions. Although hormonal changes and transplacental antibody transfer may occur, specific neonatal screening has not been shown to be useful. PATIENTS AND METHOD: A prospective study of newborns of women with autoimmune thyroid disease born at a level III university hospital (November 2013-December 2016). Neonates were selected during their stay at the maternity. Babies with perinatal asphyxia were excluded. Data were collected from the clinical histories of mothers and newborns. RESULTS: A total of 191 neonates were included. Ninety percent of mothers had been diagnosed with autoimmune hypothyroidism. Only 5.8% of newborns had some laboratory disorder, consisting of slightly increased thyroid-stimulating hormone levels, which returned to normal at the age of one month and did not correlate to thyroid peroxidase antibody levels. Transient hyperthyrotropinemia was diagnosed in one newborn and required thyroxin treatment during the first year of life. Among newborns from mothers with Graves disease, 36.8% had some abnormal laboratory value during the first 7 days of life, but there were no cases of hyperthyroidism and only one of transient hyperthyrotropinemia. CONCLUSIONS: Experience at our hospital in screening of newborns from hypothyroid mothers reveals a high number of laboratory controls with a poor diagnostic yield. No relationship was found between thyroid peroxidase antibody levels and thyroid dysfunction. We support the recommendations to continue testing serum thyroid-stimulating hormone and FT4 levels at 48h of life in newborns of mothers with autoimmune hypothyroidism.

Fenotipos conductuales: revisión de algunos síndromes no habituales / Behavioral phenotypes: review of some uncommon syndromes

INTRODUCCIÓN: Se denomina fenotipo conductual (FC) a la conducta y perfil cognitivo asociados de modo específico a un síndrome, habitualmente de origen genético. DESARROLLO: Numerosos síndromes clásicos muestran FC asociados bien conocidos en la bilbliografía, pero existen síndromes menos conocidos que presentan FC característicos. Los FC muestran habitualmente la presencia de discapacidad intelectual y/o trastorno de espectro autista, con adición de neuroconducta y déficits neuropsicológicos específicos. Existe un número creciente de diagnósticos de síndromes genéticos con patología de neurodesarrollo debido a la difusión de técnicas de estudio como los CGH-arrays y la secuenciación masiva. El estudio de genes críticos y mutaciones específicas para establecer el correlato genotipo-fenotipo conductual en cada síndrome puede ser complicado. Se revisan diversos síndromes con FC característicos poco citados en la bibliografía, con correlatos genotipo-fenotipo interesantes y paradigmáticos. CONCLUSIONES: El FC ha perdido parte del valor diagnóstico que tenía en la época previa a la difusión de las técnicas de diagnóstico genético, pero mantiene un importante valor dentro del pronóstico y manejo individualizado

INTRODUCTION: The behavior and cognitive profile specifically associated with a syndrome, usually of genetic origin, is called behavioral phenotype (BP). DEVELOPMENT: Many classic syndromes show wellknown associated BP in the bibliography, but there are less known syndromes that have characteristic BP. These BP usually show the presence of intellectual disability and/or autism spectrum disorder, with addition of neurobehavior and specific neuropsychological deficits. There is an increasing number of diagnoses of genetic syndromes with neurodevelopmental pathology due to the diffusion of study techniques such as arrays CGH and massive sequencing. The study of critical genes and specific mutations to establish the behavioral phenotype-genotype correlate in each syndrome can be complicated. We review various characteristic BP syndromes that are poorly cited in the bibliography, with interesting and paradigmatic genotype-phenotype correlates. CONCLUSIONS: BP has lost part of the diagnostic value that it had in the days prior to diffusion of genetic diagnostic techniques, but it maintains an important value within prognosis and individualized management