Complicaciones endocrinológicas del síndrome de down en pediatría: revisión de la literatura

El síndrome de Down constituye la cromosopatía más frecuente a nivel mundial y afecta 6,03 a 7,86 de cada 10.000 nacidos vivos en Colombia. Los pacientes pediátricos de este grupo poblacional presentan una mayor incidencia de complicaciones endocrinológicas comparados con la población general. El objetivo de este artículo es revisar las complicaciones endocrinológicas prevalentes en el paciente pediátrico con síndrome de Down, relacionadas con el hipocrecimiento, desarrollo puberal, patología tiroidea, diabetes mellitus, dislipidemias y obesidad; así como describir su seguimiento y tratamiento. Se realizó una búsqueda en la literatura desde agosto de 2020 hasta diciembre de 2021, en las bases de datos PubMed y Google Scholar; incluyendo un total de 44 publicaciones para la presente revisión. Se concluye que el paciente pediátrico con síndrome de Down evidencia un patrón de hipocrecimiento junto a un mayor riesgo de obesidad y sobrepeso. Adicionalmente, presenta con mayor frecuencia patología tiroidea y diabetes mellitus.

Down syndrome is the most common chromosomal disorder worldwide, affecting 6,03 to 7,86 per 10.000 live births in Colombia. Pediatric patients with Down syndrome have a higher incidence of endocrine disorders compared to the general population. The aim of this paper was to review the endocrinological manifestations prevalent in pediatric patients with Down syndrome related to small stature, pubertal development, thyroid dysfunction, diabetes mellitus, dyslipidemia, and obesity. Additionally, their follow-up and adequate treatment are described. A literature search was carried out from August 2020 to December 2021 in the PubMed and Google Scholar databases. A total of 44 publications were included for this review. It is concluded that pediatric patients with Down syndrome are more likely to have short stature and have a higher risk of obesity and overweight. In addition, thyroid dysfunction and diabetes mellitus are frequent complications.

Síndrome POEMS: desafios no diagnóstico de um caso atípico / POEMS syndrome: challenges in the diagnosis of an atypical case

Introdução: Síndrome POEMS trata de um raro evento paraneoplásico, sem relato atual na literatura sobre sua real prevalência. A maior parte dos casos ocorre em homens de meia idade; Relato do Caso: Relatamos o caso de um paciente masculino, 65 anos, admitido com queixa edema e parestesia em pernas que evoluiu para plegia, associada a hiporexia e fadiga. Investigação ambulatorial inicial evidenciou polirradiculoneuropatia inflamatória desmielinizante crônica (PIDC) de etiologia indefinida. Excluídos secundarismos para polirradiculoneuropatia inflamatória desmielinizante crônica, o paciente foi a seguir diagnosticado com hipotireoidismo primário, hipogonadismo severo, lesões hipercrômicas em pele, ascite, derrame pleural e trombocitose, além de gamopatia monoclonal IgA Lambda por imunofixação sérica. Sorologias para HIV, Sífilis e Hepatites todas negativas. Excluída a possibilidade de Mieloma Múltiplo e outras gamopatias, foi aventada a hipótese de Síndrome POEMS, sendo realizada dosagem de Fator de Crescimento Endotelial Vascular (VEGF) plasmática (425 pg/mL; VR = <96.2). O paciente passou então a preencher os critérios obrigatórios para diagnóstico, além de um maior (VEGF elevada) e vários outros menores. Trata-se de um caso atípico na medida em que, lesões ósseas, presentes em até 97% dos casos, não foram evidenciadas no paciente em questão, tornando desafiador o diagnóstico e sendo então necessário recorrer à dosagem de VEGF. O diagnóstico de síndromes raras, embora desafiante, traz ao clínico um olhar mais amplo do paciente na medida em que incrementa o raciocínio clínico. Difundir e explorar esse universo é cada vez mais necessário

Introduction: POEMS syndrome is a rare paraneoplastic event, with no current report in the literature about its real prevalence. Most cases occur in middle-aged men; Case Report: We report the case of a male patient, 65 years old, admitted with complaints of edema and paresthesia in the legs that progressed to plegia, associated with hyporexia and fatigue. Initial outpatient investigation revealed Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) of undefined etiology. Excluding secondaries for chronic inflammatory demyelinating polyradiculoneuropathy, the patient was subsequently diagnosed with primary hypothyroidism, severe hypogonadism, hyperchromic skin lesions, ascites, pleural effusion and thrombocytosis, in addition to monoclonal IgA Lambda gammopathy by serum immunofixation. All serologies for HIV, Hepatitis and syphilis were negative. Excluding the possibility of Multiple Myeloma and other gammopathies, the hypothesis of POEMS Syndrome was raised, and plasma Vascular Endotelial Growth Factor (VEGF) measurement was performed (425 pg/mL; RV = <96.2). The patient then started to fulfill the mandatory criteria for diagnosis, in addition to a major (elevated VEGF) and several other minors. This is an atypical case in that bone lesions, present in up to 97% of the cases, were not evidenced in the patient in question, making the diagnosis challenging and therefore requiring the use of VEGF dosage. The diagnosis of rare syndromes, although challenging, brings the clinician a broader view of the patient as it increases clinical reasoning. Spreading and exploring this universe is increasingly necessary

Endocrine system disturb induced by antineoplastic agents / 中国癌症杂志

Effects of antineoplastic agents on endocrine system are common, but it is difficult to identify since clinical complaints are subtle, and even more difficult to relate a particular chemotherapeutic regimen to the induced endocrine disturb. This review was organized according to the pattern of endocrine system diseases induced by antineoplastic agents, such as disorders of glucose metabolism, free water clearance, mineral metabolism, lipid metabolism and GH secretion and growth, metabolic bone diseases, adrenal dysfunction, thyroid disorders and reproductive dysfunction. Early detection and treatment of endocrine deficiency may have a significant impact on the quality and duration of life in a cancer survivor.