ABSTRACT
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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.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Growth Hormone , Weight Loss , Colombia , EndocrinologyABSTRACT
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The exponential increase in the request for laboratory tests of 25-Hydroxyvitamin D or [25 (OH) D has ignited the alarms and generated a strong call for attention, since it may reflect deficiencies in the standardization of clinical practice and in the use non-systematic scientific evidence for decision-making in real life, which allows to analyze the indications of the test, its frequency, interpretation and even to assess the impact for health systems, especially when contrasted with the minimum or almost. No effects of the strategy of screening or supplying indiscriminately to the general population, without considering a comprehensive clinical assessment of risks and needs of people. From a purely public health impact point of view, the consequence of massive and unspecified requests is affecting most of the health systems and institutions at the global level. The primary studies that determined average population intake values have been widely used in the formulation of recommendations in Clinical Practice Guidelines, but unfortunately misinterpreted as cut points to diagnose disease and allow the exaggerated prescription of nutritional substitution. The coefficient of variation in routine tests to measure blood levels of 25 (OH) D is high (28%), decreasing the overall accuracy of the test and simultaneously, increasing both the falsely high and falsely low values. The most recent scientific evidence analyzes and seriously questions the usefulness and the real effect of the massive and indiscriminate practice of prescribing vitamin D without an exhaustive risk analysis. The available evidence is insufficient to recommend a general substitution of vitamin D to prevent fractures, falls, changes in bone mineral density, incidence of cardiovascular diseases, cerebrovascular disease, neoplasms and also to modify the growth curve of mothers' children. They received vitamin D as a substitute during pregnancy. The recommendations presented in the document are based on the critical analysis of current evidence and the principles of good clinical practice and invite to consider a rational use of 25 (OH) D tests in the context of a clinical practice focused on people and a comprehensive assessment of needs and risks. The principles of good practice suggest that clinicians may be able to justify that the results of the 25 (OH) D test strongly influence and define clinical practice and modify the outcomes that interest people and impact their health and wellness. Currently there is no clarity on how to interpret the results, and the relationship between symptoms and 25 (OH) D levels, which may not be consistent with the high prevalence of vitamin D deficiency reported. For this reason, it is suggested to review the rationale of the request for tests for systematic monitoring of levels of 25 (OH) D or in all cases where substitution is performed. Consider the use of 25 (OH) D tests within the comprehensive evaluation of people with suspicion or confirmation of the following conditions: rickets, osteomalacia, osteoporosis, hyper or hypoparathyroidism, malabsorption syndromes, sarcopenia, metabolic bone disease.
ABSTRACT
Las alteraciones endocrinológicas constituyen parte importante de la consulta pediátrica, la más frecuente es el hipotiroidismo congénito, grave problema de salud pública que requiere de diagnóstico neonatal. Los avances en el estudio molecular han permitido discernir las alteraciones en los procesos de organogénesis y hormonogénesis que lo producen. Se describen las principales alteraciones moleculares relacionadas con: diferenciación tiroidea, síntesis hormonal, hipotiroidismo central y con su acción periférica. El estudio de las alteraciones moleculares abre posibilidades interesantes, pues a partir del conocimiento preciso de los procesos fisiopatológicos y moleculares podrá realizarse en forma precoz el diagnóstico y manejo de estos pacientes, previniendo las secuelas que genera esta enfermedad.
The endocrinological disorders constitute an important percentage of the pediatric consultations. The most frequently endocrinopathy is congenital hypothyroidism, which is considered a public health problem. Newborn screening is mandatory in Mexico. The advances in the molecular field have allowed differentiating among the alterations caused by this disease with especial relevance in the organogénesis and homonogenesis. In this review, the main molecular alterations are analyzed, describing their relationship with thyroid cellular differentiation, hormonal synthesis, central origin hypothyroidism and peripheral tissues target. The study of the molecular abnormalities open new possibilities as to the precise knowledge of the physiopathological and molecular processes. A better and earlier diagnosis and management of this pathology may arise, which in turn will prevent the severe sequelae that congenital hypothyroidism causes.