Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1.

INTRODUCTION: It is recommended to periodically evaluate the health-related quality of life (HRQoL) in children and adolescents with type 1 diabetes mellitus (DM1). Despite this, no specific paediatric HRQoL instrument for DM1 has been validated in Spanish. OBJECTIVES: Multicentre, prospective descriptive study in children and adolescents with DM1 with the aim of carrying out cross-cultural adaptation to Spanish and evaluating the reliability and validity of the DISABKIDS chronic disease and diabetes-specific HRQoL questionnaires, using reverse translation. MATERIAL AND METHODS: Sociodemographic variables were compiled together with the most recent capillary glycated haemoglobin (HbA1c) value and HRQoL questionnaires were handed out to 200 Spanish children and adolescents with DM1 aged between 8 and 18 years of age under evaluation in 12 different hospitals. RESULTS: The mean score on the HRQoL questionnaire (patient version) for chronic disease was 80.32 (13.66), being significantly lower (P = .04) in patients with a shorter duration of the disease (≤5 years): 78.34 (13.70) vs. 82.60 (13.36). The mean score of the DM1-specific modules was: 60.81 (16.23) for disease impact and 65.59 (26.19) for treatment impact. The mean HbA1c value was 7.08 (0.79), with no differences (P > .05) noted in the mean score of the HRQoL instruments in patients with HbA1c ≤7% vs. HbA1c >7%. The Cronbach α value varied between 0.72 and 0.90. CONCLUSIONS: The Spanish versions of the DISABKIDS HRQoL instruments meet the proposed objectives of semantic equivalence and internal consistency, making it possible to periodically assess HRQoL in these patients. The good average glycaemic control presented by the patients may explain why no difference was found in the HRQoL instruments based on the HbA1c value.

Changing trends in transgender demographics and morbidity: baseline data from a Spanish cohort.

The number of transgender people who request hormone treatment is increasing worldwide. We obtained base clinical and demographic information from transgender people treated at a specialised clinic in Spain (n =484) and studied changes over time. Transgender women treated in 2009-14 were older than those treated in 2015-20 (29years vs 17years), had a lower academic level and had higher anxiolytics consumption. Transgender men treated in 2009-14 were older than those treated later (27years vs 17years) and had a lower academic level. These trends reflect favourable changes in how the transgender population is treated by society and health services.

Recomendaciones para el diagnóstico y seguimiento del feto y del recién nacido hijo de madre con patología tiroidea autoinmune / Recommendations for the diagnosis and follow up of the foetus and newborn child born to mothers with autoimmune thyroid disease

El objetivo de este documento es revisar las recomendaciones actuales en el manejo del hijo de madre con patología autoinmune tiroidea. En este 2017 se ha publicado la guía de la Asociación Americana de Tiroides para el diagnóstico y manejo de la enfermedad tiroidea durante el embarazo y el posparto. En dicha guía se establecen 97 recomendaciones y se propone un algoritmo de diagnóstico y tratamiento del hipotiroidismo gestacional. También en este último año se ha publicado una amplia revisión sobre el abordaje fetal y neonatal del hijo de madre con enfermedad de Graves. Se insiste en la trascendencia de la determinación de anticuerpos maternos frente al receptor de TSH en la segunda mitad del embarazo para estratificar adecuadamente el riesgo en el neonato

The objective of this document is to review the current recommendations in the management of the foetus and the newborn child born to mothers with autoimmune thyroid disease. In 2017, the American Thyroid Association published guidelines for the diagnosis and management of thyroid disease during pregnancy and post-partum. In this guide, 97 recommendations were made, and an algorithm for the diagnosis and treatment of gestational hypothyroidism was proposed. Also, in this last year, a wide review was been published on the foetal and neonatal approach of the child of a mother with Graves’ disease. The importance of the determination of maternal antibodies against thyrotropin receptor in the second half of pregnancy is stressed, in order to adequately stratify the risk in the neonate

[Recommendations for the diagnosis and follow up of the foetus and newborn child born to mothers with autoimmune thyroid disease]. / Recomendaciones para el diagnóstico y seguimiento del feto y del recién nacido hijo de madre con patología tiroidea autoinmune.

The objective of this document is to review the current recommendations in the management of the foetus and the newborn child born to mothers with autoimmune thyroid disease. In 2017, the American Thyroid Association published guidelines for the diagnosis and management of thyroid disease during pregnancy and post-partum. In this guide, 97 recommendations were made, and an algorithm for the diagnosis and treatment of gestational hypothyroidism was proposed. Also, in this last year, a wide review was been published on the foetal and neonatal approach of the child of a mother with Graves' disease. The importance of the determination of maternal antibodies against thyrotropin receptor in the second half of pregnancy is stressed, in order to adequately stratify the risk in the neonate.

Síndrome de Turner: del nacimiento a la edad adulta / Turner syndrome: From birth to adulthood

INTRODUCCIÓN: El síndrome de Turner es definido por un conjunto de rasgos fenotípicos característicos resultantes de la alteración completa o parcial del cromosoma X. PACIENTES Y MÉTODOS: Estudio descriptivo retrospectivo en el que se analiza el diagnóstico, la evolución y la situación actual de pacientes controladas en los últimos 40 años de síndrome de Turner en un hospital terciario (Bizkaia) mediante revisión de historias clínicas y encuestas telefónicas. RESULTADOS: Estudiamos 45 mujeres, con edad media actual de 22,95 años (rango 2-38) y edad media de diagnóstico de 4,71 años. El 63% presentaron mosaicismo en su cariotipo. El motivo de consulta más frecuente fue talla baja (54%), objetivándose un incremento de diagnóstico prenatal en los casos más recientes. Han recibido tratamiento con hormona de crecimiento el 72%, y el 26% además recibieron oxandrolona. En el 69% de las pacientes la talla final alcanzada fue baja. Han presentado fallo gonadal el 66%, recibiendo la mayoría tratamiento hormonal sustitutivo. Tres pacientes han tenido descendencia con óvulo de donante. El seguimiento de las 31 pacientes adultas es llevado a cabo fundamentalmente por endocrinología (37,5%) y/o ginecología (34,4%). En el ámbito psicosocial han precisado ayuda durante la escolarización el 22%, alcanzando el 80% estudios de nivel medio-alto. Dos pacientes han fallecido, una por disección de aneurisma aórtico y la otra paciente, con múltiples patologías, por insuficiencia respiratoria. Comentarios: La talla baja es el motivo más frecuente de consulta en pacientes con síndrome de Turner. En la mayoría de los casos el cariotipo es mosaico. Las manifestaciones clínicas más frecuentes son talla baja y fallo gonadal. El 80% consiguen realizar estudios de nivel medio-alto. En la edad adulta el seguimiento es irregular y en ocasiones escaso, siendo claramente mejorable

BACKGROUND: Turner syndrome is characterized by a great variability of clinical manifestations caused by a total or partial loss of X-chromosome. PATIENTS AND METHODS: A retrospective, descriptive study of the diagnosis, course, and current status of patients with Turner syndrome followed up at our section over the past 40 years, based on review of medical records supplemented with a telephone survey. RESULTS: Forty-five female patients with a current mean age of 22.95 years (range 2-38) and a mean age at diagnosis of 4.71 were included. Sixty-three percent of them showed a mosaic karyotype. Short stature was the most common reason for consultation (54%), with increased prenatal diagnosis in most recent cases. Seventy-two percent have been treated with growth hormone, together with oxandrolone in 26%. Final stature was short in 69% of patients. Gonadal failure was found in 66%; most of whom received replacement therapy. Three patients achieved pregnancy by oocyte donation. The 31 adult patients are mainly monitored by the endocrinology (37.5%) and/or gynecology (34.4%) departments. As regards psychosocial aspects, 22% required support during school, and 80% completed middle to high level education. Two patients died, one due to dissecting aortic aneurysm and the other one, who had multiple pathological conditions, from respiratory failure. CONCLUSIONS: Short stature is the main cause of diagnosis in patients with Turner syndrome; most cases show genetic mosaicism. The most common clinical manifestations include short stature and gonadal failure. Eighty percent of patients complete middle or high education. In adulthood, follow-up is irregular, sometimes scarce, and clearly improvable

Turner syndrome: From birth to adulthood.

BACKGROUND: Turner syndrome is characterized by a great variability of clinical manifestations caused by a total or partial loss of X-chromosome. PATIENTS AND METHODS: A retrospective, descriptive study of the diagnosis, course, and current status of patients with Turner syndrome followed up at our section over the past 40 years, based on review of medical records supplemented with a telephone survey. RESULTS: Forty-five female patients with a current mean age of 22.95years (range 2-38) and a mean age at diagnosis of 4.71 were included. Sixty-three percent of them showed a mosaic karyotype. Short stature was the most common reason for consultation (54%), with increased prenatal diagnosis in most recent cases. Seventy-two percent have been treated with growth hormone, together with oxandrolone in 26%. Final stature was short in 69% of patients. Gonadal failure was found in 66%; most of whom received replacement therapy. Three patients achieved pregnancy by oocyte donation. The 31 adult patients are mainly monitored by the endocrinology (37.5%) and/or gynecology (34.4%) departments. As regards psychosocial aspects, 22% required support during school, and 80% completed middle to high level education. Two patients died, one due to dissecting aortic aneurysm and the other one, who had multiple pathological conditions, from respiratory failure. CONCLUSIONS: Short stature is the main cause of diagnosis in patients with Turner syndrome; most cases show genetic mosaicism. The most common clinical manifestations include short stature and gonadal failure. Eighty percent of patients complete middle or high education. In adulthood, follow-up is irregular, sometimes scarce, and clearly improvable.