RESUMO
La hiperplasia suprarrenal congénita (HSC), es un desorden endócrino genético debido a alteraciones en la esteroidogénesis adrenal por déficit de una de las enzimas participantes en este ciclo, caracterizado por diferentes grados de alteración en la síntesis de glucocorticoides y mineralocorticoides más una sobreestimulación de la vía androgénica provocando durante el desarrollo embrionario la virilización de los genitales externos. En el 90 a 95 % de los casos la enzima más afectada es la 21 hidroxilasa y de éstas el 75% tiene déficit de aldosterona con pérdida de sal que da lugar a crisis adrenal con riesgo de vida. Se clasifica en su forma clásica y no clásica. El diagnóstico prenatal es fundamental para delinear estrategias de tratamiento perinatal. El déficit de 21-hidroxilasa es el primer diagnóstico que se plantea ante un recién nacido con genitales ambiguos y se debería iniciar terapia de reemplazo hormonal. Presentamos un caso clínico de un neonato con hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa en su forma clásica perdedor de sal.
Congenital adrenal hyperplasia (CAH) is an endocrine genetic disorder due to alterations in adrenal steroidogenesis due to a deficiency of one of the enzymes participating in this cycle, characterized by different degrees of alteration in the synthesis of glucocorticoids and mineralocorticoids plus an overstimulation of the androgenic pathway causing during the embryonic development the virilization of the external genitalia. In 90 to 95% of the cases the most affected enzyme is 21 hydroxylase and of these 75% have aldosterone deficit with salt loss that leads to adrenal crisis with life risk. It is classified in classical and non-classical form. Prenatal diagnosis is essential to delineate perinatal treatment strategies. Deficiency of 21-hydroxylase is the first diagnosis that is presented to a newborn with ambiguous genitalia and should initiate hormone replacement therapy. We present a clinical case of a neonate with congenital adrenal hyperplasia due to a deficiency of 21-hydroxylase in its classical salt-losing form.
Assuntos
Humanos , Masculino , Recém-Nascido , Recém-Nascido , Hiperplasia Suprarrenal Congênita , Oxigenases de Função MistaRESUMO
Education at the community level is indispensable for control of chronic non-communicable diseases and comprehensive patient care, with diabetes mellitus a case in point. The need is even more pronounced for type 1 diabetes, affecting children and adolescents. Families of diabetic adolescents naturally worry about vulnerability to sexually transmitted diseases, which create risks for glycemic control and the adolescent's health. We felt compelled to explore the issue of sexuality in diabetes education for adolescents, because education can do more than help maintain metabolic control; it can contribute to keeping diabetic children and adolescents on a healthy developmental curve, when combined with the other pillars of diabetes management. Accordingly, we carried out an educational intervention to increase type 1 diabetic adolescents' knowledge of sexuality and sexually transmitted infections. Participants were 20 adolescents in Camagüey Province's central clinic for type 1 diabetes patients. A six-session educational program was developed and implemented. Responses to a questionnaire before and after the program revealed that prior to the intervention only 3 of 20 participants (15%) demonstrated satisfactory knowledge of the material covered (≥ 70%), increasing to 20 (100%) after completion of the program.
