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.

Clinical practice guidelines for transsexual, transgender and gender diverse minors.

Some people, including minors, have a gender identity that does not correspond to the sex assigned at birth. They are known as trans* people, which is an umbrella term that encompasses transgender, transsexual, and other identities not conforming to the assigned gender. Healthcare units for trans* minors require multidisciplinary working, undertaken by personnel expert in gender identity, enabling, when requested, interventions for the minor and their social-familial environment, in an individualized and flexible way during the gender affirmation path. This service model also includes hormonal treatments tailored as much as possible to the individual's needs, beyond the dichotomic goals of a traditional binary model. This guide addresses the general aspects of professional care of trans* minors and presents the current evidence-based protocol of hormonal treatments for trans* and non-binary adolescents. In addition, it details key aspects related to expected body changes and their possible side effects, as well as prior counselling about fertility preservation.

Guía clínica de atención a menores transexuales, transgéneros y de género diverso / Clinical practice guidelines for transsexual, transgender and gender diverse minors

Algunas personas, también las menores de edad, tienen una identidad de género que no se corresponde con el sexo asignado al nacer. Se les conoce como personas trans*, que es el término paraguas que engloba transgénero, transexual y otras identidades no conformes con el género asignado. Las unidades de asistencia sanitaria a menores trans* requieren un trabajo multidisciplinario, realizado por personal experto en identidad de género, que permita, cuando así lo soliciten, intervenciones para el menor y su entorno sociofamiliar, de forma individualizada y flexible durante el camino de afirmación de género. Este modelo de servicio también incluye tratamientos hormonales adaptados en la medida de lo posible a las necesidades del individuo, más allá de los objetivos dicotómicos de un modelo binario tradicional. Esta guía aborda los aspectos generales de la atención profesional de menores trans* y presenta el protocolo actual basado en evidencia de tratamientos hormonales para adolescentes trans* y no binarios. Además, detalla aspectos clave relacionados con los cambios corporales esperados y sus posibles efectos secundarios, así como el asesoramiento previo sobre preservación de la fertilidad. (AU)

Some people, including minors, have a gender identity that does not correspond to the sex assigned at birth. They are known as trans* people, which is an umbrella term that encompasses transgender, transsexual, and other identities not conforming to the assigned gender. Healthcare units for trans* minors require multidisciplinary working, undertaken by personnel expert in gender identity, enabling, when requested, interventions for the minor and their social–familial environment, in an individualized and flexible way during the gender affirmation path. This service model also includes hormonal treatments tailored as much as possible to the individual's needs, beyond the dichotomic goals of a traditional binary model. This guide addresses the general aspects of professional care of trans* minors and presents the current evidence-based protocol of hormonal treatments for trans* and non-binary adolescents. In addition, it details key aspects related to expected body changes and their possible side effects, as well as prior counselling about fertility preservation. (AU)

Severe hypertrichosis in infants due to transdermic exposure to 5% and 7% topical minoxidil.

We report three cases of severe hypertrichosis in healthy infants, who did not present any type of endocrinological pathology and whose parents used topical minoxidil for the treatment of their baldness. Any type of direct application or administration of the product was ruled out. Hypertrichosis is considered to have occurred through skin-to-skin contact with the parent, and even through fomites. Given the widespread use of topical minoxidil, it is likely that this etiology of childhood hypertrichosis is underdiagnosed and that it sometimes leads to minimal forms that go unnoticed.

Recomendaciones de la Sociedad Española de Diabetes (SED) para el tratamiento farmacológico de la hiperglucemia en la diabetes tipo 2: Actualización 2018 / Spanish Diabetes Society (SED) recommendations for the pharmacologic treatment of hyperglycemia in type 2 diabetes: 2018 Update

La diabetes mellitus tipo 2 (DM2) es un problema de dimensiones globales por su alta y creciente prevalencia en todo el mundo y por los costes personales y económicos asociados a ella. Un tratamiento adecuado ha demostrado reducir la mortalidad y las complicaciones asociadas. Recientemente se han incluido nuevos conceptos en la práctica clínica habitual y en el árbol de decisión de la terapia farmacológica de la DM2. Por ello, la Sociedad Española de Diabetes (SED) encargó al Grupo de Trabajo de Consensos y Guías Clínicas actualizar el documento de 2010 «Recomendaciones para el tratamiento farmacológico de la hiperglucemia en la diabetes tipo2». Entre los aspectos novedosos se incluyen nueve características para describir a cada grupo farmacológico: eficacia, riesgo de hipoglucemia, efectos en el peso corporal, efecto demostrado en el riesgo cardiovascular, nefroprotección, limitación de uso en la insuficiencia renal, frecuencia de los efectos secundarios, complejidad y coste. Así mismo, se detallan las opciones de combinación y se desarrollan el inicio y el ajuste de las terapias inyectables disponibles

Type 2 diabetes mellitus (DM2) has become a problem of global dimensions by their high and growing prevalence worldwide and the personal and economic costs associated with it. Correct treatment can reduce mortality and associated complications. New concepts have recently been included in routine clinical practice and have changed the algorithm of DM2 pharmacological therapy. Therefore, the Spanish Society of Diabetes (SED) entrusted to the Working Group of Consensus and Clinical Guidelines an update of the 2010 document Recommendations for Pharmacological Treatment of Hyperglycemia in Diabetes type2. Novel aspects include nine characteristics to describe each drug group: efficiency, the risk of hypoglycemia, effects on body weight, the demonstrated effect in cardiovascular risk, nephroprotection, limitation of use in renal insufficiency, the rate of secondary effects, complexity and costs. Additionally, the document details combination options, and develop the start and adjustment of available injectable therapies

Spanish Diabetes Society (SED) recommendations for the pharmacologic treatment of hyperglycemia in type 2 diabetes: 2018 Update. / Recomendaciones de la Sociedad Española de Diabetes (SED) para el tratamiento farmacológico de la hiperglucemia en la diabetes tipo 2: Actualización 2018.

Type 2 diabetes mellitus (DM2) has become a problem of global dimensions by their high and growing prevalence worldwide and the personal and economic costs associated with it. Correct treatment can reduce mortality and associated complications. New concepts have recently been included in routine clinical practice and have changed the algorithm of DM2 pharmacological therapy. Therefore, the Spanish Society of Diabetes (SED) entrusted to the Working Group of Consensus and Clinical Guidelines an update of the 2010 document Recommendations for Pharmacological Treatment of Hyperglycemia in Diabetes type2. Novel aspects include nine characteristics to describe each drug group: efficiency, the risk of hypoglycemia, effects on body weight, the demonstrated effect in cardiovascular risk, nephroprotection, limitation of use in renal insufficiency, the rate of secondary effects, complexity and costs. Additionally, the document details combination options, and develop the start and adjustment of available injectable therapies.

Consenso sobre tratamiento con insulina en la diabetes tipo 2 / Consensus on insulin treatment in type 2 diabetes

No disponible

Factores de riesgo cardiovascular en adolescentes escolarizados (RIVACANGAS) / Cardiovascular risk factors in scholars (RIVACANGAS)

Antecedentes y objetivo: La hipertensión arterial (HTA) en niños y adolescentes y las estrategias de prevención cardiovascular están poco estudiadas en ese grupo de edad. El objetivo del estudio es conocer los factores de riesgo cardiovascular (RCV) en una muestra de adolescentes. Sujetos y métodos: Estudio observacional transversal de una muestra de adolescentes de 12 a 17años (n=630), realizado entre octubre de 2014 y febrero de 2015 en 4 centros escolares de Cangas do Morrazo (Pontevedra). Variables sociodemográficas: edad, sexo, antecedentes personales y familiares de HTA y diabetes (DM). Variables antropométricas: índice de masa corporal (IMC) (kg/m2), perímetro de cintura (cm), índice cintura/talla (ICT); presión arterial sistólica (PAS) y diastólica (PAD) (mmHg). Resultados: Se seleccionaron 295 mujeres y 335 hombres. Edad media: 13,8±1,4años. El 68% sin patologías. Patologías relacionadas con RCV: hipercolesterolemia (7,1%), enfermedad cardiovascular (1,7%), HTA (0,8%), diabetes (0,3%). IMC medio: 22,0±3,8, mayor en hombres (22,4±3,8 vs 21,0±3,2; p<0,01). Sobrepeso (IMC>P85) 23,3%, mayor en mujeres (27,6% vs 19,7%; p<0,05). Obesidad: 7%. El 63,8% PAS>P90 y el 23,7% PAD>P90. El perímetro de cintura se correlaciona de forma positiva con la edad (r=0,1669; p<0,0001) y es mayor entre los hombres (75,4±10,9 vs 72,9±8,9; p<0,01). El 27,1% perímetro de cintura >P75 y el 7,5%, >P90. Un total de 84 (13,3%) adolescentes presentaron 2 factores de RCV (sobrepeso+otro). Conclusiones: Pese a su corta edad, más del 10% de los escolares tiene 2 factores de RCV. Más del 50% presentaron valores anormales de PAS, el 20%, sobrepeso, y casi el 25%, valores anormales de perímetro de cintura (AU)

Background and aim: The current guidelines for treatment of high blood pressure do not include any section dedicated to hypertension in children and adolescents or to cardiovascular disease (CVD) prevention strategies in that age group. Our study was aimed at identifying cardiovascular risk factors (CVRFs) in an adolescent sample. Subjects and methods: A cross-sectional study of a sample of adolescents aged 12 to 17years (n=630), conducted from October 2014 to February 2015 in four schools in Cangas do Morrazo (Pontevedra). Sociodemographic variables: age, sex, personal and family history of hypertension and diabetes (DM). Anthropometric variables: body mass index (BMI, kg/m2), waist circumference (WC, cm), waist/height index (WHI), blood pressure (mmHg). Results: The study sample consisted of 295 female and 335 male adolescents (mean age: 13.8±1.4). CVR-related conditions: hypercholesterolemia (7.1%), CVD (1.7%), hypertension (0.8%) and diabetes (0.3%). BMI (22.0±3,8) was higher in males (22.4±3.8 vs. 21.0±3.2; P<.01). Overweight was greater in females (27.6% vs. 19.7%; P<.05). Seven percent of subjects were obese, 63.8% had systolic BP >P90 and 23.7% had diastolic BP >P90. Waist circumference positively correlated with age (r=0.1669; P<.0001) and was greater in males (75.4±10.9 vs. 72.9±8.9; P<0.01); 27.1% of adolescents had a waist circumference >P75, and 7.5% >P90. Eighty-four (13.3%) adolescents had two CVRFs (overweight+another). Conclusions: Despite their young age, more than 10% of school children had two CVRFs. Abnormal SBP levels were seen in more than 50%, 20% were overweight, and only 75% had normal waist circumference values (AU)

Cardiovascular risk factors in scholars (RIVACANGAS). / Factores de riesgo cardiovascular en adolescentes escolarizados (RIVACANGAS).

BACKGROUND AND AIM: The current guidelines for treatment of high blood pressure do not include any section dedicated to hypertension in children and adolescents or to cardiovascular disease (CVD) prevention strategies in that age group. Our study was aimed at identifying cardiovascular risk factors (CVRFs) in an adolescent sample. SUBJECTS AND METHODS: A cross-sectional study of a sample of adolescents aged 12 to 17years (n=630), conducted from October 2014 to February 2015 in four schools in Cangas do Morrazo (Pontevedra). Sociodemographic variables: age, sex, personal and family history of hypertension and diabetes (DM). Anthropometric variables: body mass index (BMI, kg/m2), waist circumference (WC, cm), waist/height index (WHI), blood pressure (mmHg). RESULTS: The study sample consisted of 295 female and 335 male adolescents (mean age: 13.8±1.4). CVR-related conditions: hypercholesterolemia (7.1%), CVD (1.7%), hypertension (0.8%) and diabetes (0.3%). BMI (22.0±3,8) was higher in males (22.4±3.8 vs. 21.0±3.2; P<.01). Overweight was greater in females (27.6% vs. 19.7%; P<.05). Seven percent of subjects were obese, 63.8% had systolic BP >P90 and 23.7% had diastolic BP >P90. Waist circumference positively correlated with age (r=0.1669; P<.0001) and was greater in males (75.4±10.9 vs. 72.9±8.9; P<0.01); 27.1% of adolescents had a waist circumference >P75, and 7.5% >P90. Eighty-four (13.3%) adolescents had two CVRFs (overweight+another). CONCLUSIONS: Despite their young age, more than 10% of school children had two CVRFs. Abnormal SBP levels were seen in more than 50%, 20% were overweight, and only 75% had normal waist circumference values.

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.