The views of teenagers with obesity, their caregivers, and doctors: a plain language summary of the ACTION Teens global survey.

WHAT IS THIS SUMMARY ABOUT?: This is a summary of a research survey called ACTION Teens. In our survey, 12,987 people from 10 countries answered questions about obesity. They were: 5275 teenagers with obesity, 5389 caregivers of teenagers with obesity, and 2323 doctors who provide medical care for teenagers with obesity. WHAT WERE THE MAIN RESULTS OF THE SURVEY?: Most teenagers with obesity were worried about their weight and thought that losing weight was their responsibility. Many teenagers had already tried to lose weight. For teenagers, wanting to be more fit or in better shape was the top reason for wanting to lose weight. Some caregivers did not realize how worried their teenager was about their own weight. There were also some caregivers who were not aware of their teenager's recent attempts to lose weight. As a group, the doctors did not know the main reasons why teenagers want to lose weight. They also did not know the main reasons preventing teenagers from losing weight. WHAT DO THE RESULTS OF THE SURVEY MEAN?: Teenagers with obesity will be better supported and understood if there is better communication between teenagers, caregivers, and doctors. Clinical Trial Registration: NCT05013359 (ClinicalTrials.gov).

Misalignment among adolescents living with obesity, caregivers, and healthcare professionals: ACTION Teens global survey study.

BACKGROUND: There is limited evidence regarding the experiences, challenges, and needs of adolescents living with obesity (ALwO), their caregivers, and healthcare professionals (HCPs). OBJECTIVES: The cross-sectional, survey-based global ACTION Teens study aimed to identify perceptions, attitudes, behaviours, and barriers to effective obesity care among ALwO, caregivers of ALwO, and HCPs. METHODS: ALwO (aged 12 to <18 years; N = 5275), caregivers (N = 5389), and HCPs treating ALwO (N = 2323) from 10 countries completed an online survey (August-December 2021). RESULTS: Most ALwO perceived their weight as above normal (76% vs. 66% of caregivers), were worried about its impact on their health (85% vs. 80% of caregivers), and recently made a weight loss attempt (58%). While 45% of caregivers believed ALwO would slim down with age, only 24% of HCPs agreed. Most commonly reported weight loss motivators for ALwO were wanting to be more fit/in better shape according to ALwO (40%) and caregivers (32%), and improved confidence/social life according to HCPs (69%). ALwO weight loss barriers included lack of hunger control (most commonly reported by ALwO/caregivers), lack of motivation, unhealthy eating habits (most commonly agreed by HCPs), and lack of exercise. CONCLUSIONS: Misalignment between ALwO, caregivers, and HCPs-including caregivers' underestimation of the impact of obesity on ALwO and HCPs' misperception of key motivators/barriers for weight loss-suggests a need for improved communication and education.

[A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia]. / Nueva Variante Patogénica en el Gen NR0B1 Asociada a Hipoplasia Adrenal Congénita.

X-linked adrenal hypoplasia congenita is a rare cause of primary adrenal insufficiency. Mutations in the NR0B1 gene cause a loss of function in the DAX1 receptor, which activates genes involved in the development and function of the hypothalamic-pituitary-gonadal axis. Objective: To describe a case of adrenal hypoplasia congenita secondary to a mutation in the NR0B1 gene and identified the differential diagnoses of the pediatric patient with adrenal insufficiency and hypogonadotropic hypogonadism. Clinical Case: A 4-year-old male patient with no relevant history and from a rural area was admitted to the emergency room due to a 15-days of emesis, asthenia, adynamia, myalgia, and ataxic gait. On the physical examination, hypotension, hyponatremia, and hyperkalemia, as well as mucosal hyperpigmentation and bilateral cryptorchidism were observed, therefore, adrenal crisis was diagnosed, starting fluid resuscitation with saline solution, hydrocortisone, and fludrocortisone, which stabilized the patient. Adrenal hyperplasia congenita, innate metabolic error, and infectious or autoimmune etiology were ruled out as etiology. A clinical exome test was performed which iden tified the variant c.1275A > T; p.Arg425Ser (Transcript ENST00000378970.5) in the NR0B1 gene consistent with X-linked adrenal hypoplasia congenita. Management of the patient continued with glucocorticoids and mineralocorticoids with favorable clinical course at 7 years of follow-up. Con clusion: A novel pathogenic variant associated with X-linked adrenal hypoplasia is described. Variants in the NR0B1 gene should be a differential diagnosis in a male patient with the association of primary adrenal insufficiency and hypogonadism.

Recomendaciones para el uso de la hormona de crecimiento humana recombinante en pacientes pediátricos de talla baja en Colombia / Recommendations for treatment with recombinant human growth hormone in pediatric patients in Colombia

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Abstract In Colombia there are no guidelines for diagnosis and management of patients with short stature and for the use of recombinant human growth hormone, mainly caused by the diversity of training centers in pediatric endocrinology. In response to this situation, the Asociación Colegio Colombiana de Endocrinología Pediátrica leds the first colombian short stature expert committee in order to standardize the use of human recombinant growth hormone. This work had the participation and endorsement of a consortium of clinical experts representing the Sociedad Colombiana de Pediatría, Secretaría Distrital de Salud de Bogotá- Subred Integrada de Servicios de Salud Suroccidente, Fundación Universitaria Sanitas, Universidad de los Andes and some public and private health institutions in the country, in addition to the participation of methodological experts from the Instituto Global de Excelencia Clínica Keralty. By reviewing the literature and with the best available evidence, we proposed to unify definitions, a diagnostic algorithm, biochemical and dynamic tests with their reference parameters, a description of the considerations about growth hormone use among the indications approved by regulatory agency for medications and food in Colombia and finally a proposal for an informed consent and a medication fact sheet available for parents and patients.

Becker's Nevus Syndrome in a Pediatric Female Patient.

Becker's nevus syndrome is part of the epidermal nevus syndromes and has been described with a phenotype that includes Becker's nevus, ipsilateral breast hypoplasia, and variable skeletal malformations. It is more frequent in males than in females (5 : 1) but is more relevant in females. The diagnosis is clinically based and the skin lesion must be present and no other numbered criteria have been established, but with more criteria being present the possibility of the diagnosis is higher. Regarding the treatment of breast hypoplasia, the use of antiandrogen medication has demonstrated adequate clinical response in a dose of 50 mg/day of spironolactone.

Deficiencia de 3-beta-hidroxiesteroide deshidrogenasa: una causa rara de hiperplasia adrenal congénita / 3-beta-hydroxysteroid dehydrogenase deficiency: a rare cause of congenital adrenal hyperplasia

Resumen: la hiperplasia adrenal congénita corresponde a un grupo de enfermedades heredadas con defectos enzimáticos que pueden comprometer la biosíntesis del cortisol. La deficiencia de la enzima 3β-hidroxiesteroide deshidrogenasa tipo 2 es una causa rara de este defecto en la que el desarrollo genital masculino se encuentra alterado y presenta una virilización leve en las mujeres afectadas. En humanos se han descrito dos isoenzimas, la tipo I y la tipo II, codificadas por los genes HSD3B1 y HSD3B2, respectivamente, con una distribución tisular específica.Los programas de tamización de la hiperplasia adrenal congénita reportan elevación paradójica de la 17-hidroxiprogesterona secundaria al efecto periférico de la 3β-hidroxiesteroide deshidrogenasa tipo 1, isoenzima de la 3β-hidroxiesteroide deshidrogenasa tipo 2, que tiene una constante de Michaelis menor con el sustrato.A pesar de la baja prevalencia el estudio de este defecto ha tenido importantes avances en cuanto a la información molecular y el diagnóstico hormonal, datos que han sido respaldados por la identificación de la alteración genética y han disminuido la posibilidad del sobrediagnóstico; evento que se estaba presentado frecuentemente con los puntos de cortes establecidos inicialmente para el diagnósticode la enfermedad, sobre todo en sus formas leves.

Abstract: the congenital adrenal hyperplasia corresponds to a group of inherited diseases with enzyme defects that alter the cortisol biosynthesis. The 3β-hydroxysteroid dehydrogenase type 2 deficiency is a rare cause of this defect, where the male genital development is altered but little virilization in affected women is present. In humans two isoenzymes have been described, type I and type II, coded by HSD3B2 and HSD3B1 genes, respectively, and with specific tissuedistribution. The screening programs to congenital adrenal hyperplasia report paradoxical elevation of 17-hydroxyprogesterone secondary to peripheral effect of 3β-hydroxysteroid dehydrogenase type 1, an isoenzyme of 3β-hydroxysteroid dehydrogenase type 2. Type 1 has a lower Michaelis constant with the substrate; additional condition that relates with the paradoxical effect of the 17-hydroxyprogesterone.Besides the low prevalence, the study of this defect has had important progress about molecular information and hormonal diagnosis, data that has been confirmed with the identification of genetic alteration in the described gene, reducing the possibility of overdiagnosis; an event that was showing frequently with the initially cut-point stablished especially for milder forms of the disease.

Metabolismo mineral y óseo: visióngeneral y sus métodos de medición / Bone and mineral metabolism: overview and methods of measurement

Resumen: las concentraciones plasmáticas de calcio, fósforo y magnesio dependen del balance neto del depósito mineral óseo y su resorción, la absorción intestinal y la excreción renal. Estos iones son importantes para muchas funciones biológicas y celulares como la señalización intracelular, la transmisión neural y la contracción muscular. Las principales hormonas que regulan la homeostasis de estos procesos son la hormona paratiroidea (PTH), la calcitonina, la 1,25-dihidroxi vitamina D y el factor de crecimiento fibroblástico-23 (FGF- 23). A través de sus acciones e interacciones sobre el hueso, el riñón y el tracto gastrointestinal las hormonas calciotrópicas (la hormona paratiroidea, la calcitonina y los metabolitos de la vitamina D, especialmente la 1,25-dihidroxi vitamina D) actúan para mantener la calcemia dentro de un rango normal, lo que permite el funcionamiento óptimo de muchos procesos fisiológicos dependientes de calcio. Los avances en las técnicas de análisis de los diferentes componentes del metabolismo mineral y óseo son útiles en la comprensión de su papel en la salud y la enfermedad. En este artículo se ofrece una revisión de los aspectos fisiológicos, clínicos y analíticos de estos protagonistas en el metabolismo óseo y mineral.

Abstract: the plasma concentrations of calcium, phosphate, and magnesium are dependent on the net balance of bone mineral deposition and resorption, intestinal absorption, and renal excretion. These ions are important for many biologic and cellular functions such as intracellular signaling, neural transmission, and muscle contraction. The principal hormones regulating the homeostasis of these processes are parathyroid hormone (PTH), calcitonin, 1.25-dihydroxy vitamin D and fibroblast growth factor-23 (FGF-23). Through their actions on bone, kidney and the gastrointestinal tract, the calciotropic hormones (parathyroid hormone, calcitonin, and vitamin D metabolites, especially the 1.25-dihydroxy vitamin D) act to maintain serum calcium within a normal range, that allows the optimally function of many calcium-requiring physiological functions. The improved procedures for the assays of different components of mineral and bone metabolism are useful in understanding their role in health and disease. This paper provides a review of the physiology, clinical and analytic aspects of these protagonists in bone and mineral metabolism.

Hipotiroidismo adquirido en niños / Acquired hypothyroidism in childhood

El hipotiroidismo es una de las enfermedades endocrinas más frecuentes, sus manifestacionesse explican por la producción insuficiente de hormonas tiroideas o por su acción inadecuada en los órganos blanco. Según la causa, el hipotiroidismo se puede clasificar comocongénito o adquirido, y se puede originar de forma primaria en la glándula tiroidea por defectosen la síntesis y liberación hormonal, o de forma secundaria por alteraciones centrales en el eje hipotálamo-hipófisis-tiroides. La etiología y las características clínicas del hipotiroidismo en niñosy adolescentes difieren en parte de las presentadas en los adultos; por ello, es fundamental identificarlas manifestaciones particulares de la disfunción tiroidea durante la edad pediátrica, para lograr un diagnóstico y tratamiento oportunos, los cuales son esenciales para la prevención delas múltiples complicaciones, especialmente las secuelas neurológicas devastadoras y el retraso en el desarrollo. En este artículo se revisarán las principales características del hipotiroidismo adquirido en niños y adolescentes, planteándose a partir de un enfoque clínico simple y útil parala práctica médica general.

Hypothyroidism is one of the most frequent endocrine diseases; its signs and symptoms are explained by the inadequate production of thyroid hormones or their inadequate action in target tissues. According to the cause, hypothyroidism can be classified as congenital or acquired. It can arise as a primary dysfunction of the thyroid gland, in which there is a defect in thyroid hormone synthesis and hormonal release, or by a central defect from the hypothalamic-pituitary-thyroid axis.The etiology and clinical presentation of hypothyroidism in children and adolescents substantially differ from that in adults. Therefore, the identification of the specific clinical manifestations of thyroid dysfunction in childhood is fundamental to achieve an early diagnosis and treatment, which are essential to prevent multiple complications, especially devastating nervous system damage, anddevelopment delay. The aim of this review article is to describe the main characteristics of acquiredhypothyroidism in pediatric age, through a simple clinical approach, useful to the daily general medical practice.