This review provides an update on the epidemiology, pathophysiology, symptoms, diagnosis and treatment of neuroendocrine neoplasms (NENs) of the small bowel (SB). These NENs are defined as a group of neoplasms deriving from neuroendocrine cells. NENs are currently the most common primary tumors of the SB, mainly involving the ileum, making the SB the most frequently affected part of the gastrointestinal tract. SB NENs by definition are located between the ligament of Treitz and the ileocecal valve. They are characterized by small size and induce an extensive fibrotic reaction in the small intestine including the mesentery, resulting in narrowing or twisting of the intestine. Clinical manifestations of bowel functionality are related to the precise location of the primary tumor. The majority of them are non-functional NENs and generally asymptomatic; in an advanced stage, NENs present symptoms of mass effect by non-specific abdominal pain or carcinoid syndrome which appears in patients with liver metastasis (around 10%). The main manifestations of the carcinoid syndrome are facial flushing (94%), diarrhea (78%), abdominal cramps (50%), heart valve disease (50%), telangiectasia (25%), wheezing (15%) and edema (19%). Diagnosis is made by imaging or biochemical tests, and the order of request will depend on the initial diagnostic hypothesis, while confirmation will always be histological. All patients with a localized SB NEN with or without near metastasis in the mesentery are recommended for curative resection. Locoregional and distant spread may be susceptible to several therapeutic strategies, such as chemotherapy, somatostatin analogs and palliative resection.
Obesity in children and adolescents has increased exponentially around the world. Furthermore, the COVID-19 pandemic has led to a higher pediatric obesity rate. The excess adipose tissue generates a dysregulation of adiponectin, ghrelin, and leptin, among others. Metabolic alterations can develop cardiovascular disease, dyslipidemias, arterial hypertension, type 2 diabetes mellitus, nonalcoholic fatty liver disease, sleep disorders, and higher risk of COVID-19 severity. Obesity has different therapeutic approaches such as behavioral weight loss programs, pharmacologic treatments, and surgical procedures. Therefore, timely diagnosis and treatment are important to decrease the mortality in obesity among pediatric population.
La obesidad en niños y adolescentes ha aumentado exponencialmente en todo el mundo. Asimismo, la pandemia del coronavirus (COVID-19) ha conducido a una mayor tasa de obesidad pediátrica. El exceso de tejido adiposo genera una desregulación de hormonas como adiponectina, ghrelina y leptina, entre otras. Las alteraciones metabólicas pueden ocasionar enfermedad cardiovascular, dislipidemias, hipertensión arterial, diabetes mellitus tipo 2, enfermedad del hígado graso no alcohólico, trastornos del sueño y mayor riesgo de COVID-19 severo. La obesidad tiene diferentes enfoques terapéuticos, como programas conductuales de pérdida de peso, tratamientos farmacológicos y procedimientos quirúrgicos. De esta manera, el diagnóstico y el tratamiento oportuno es importante para disminuir la mortalidad asociada a la obesidad en la población pediátrica.
Disorders of sexual differentiation are congenital pathologies characterized by atypical development of genetic, gonadal, or phenotypic sex. These are caused by the alteration of any primordial phases of sexual development and may be evident at birth or in the later stage of life. Here, we present the case of a nine-year-old Peruvian school patient who has female gender assigned at birth, has no contributory antecedents and was found to have clitoromegaly and hypospadia on physical examination. In the blood tests, anti-Müllerian hormone and testosterone were found, and 46 XY karyotype and sex-determining region Y (SRY) genes were present. On abdominal ultrasound, testicles were found in the inguinal canals. The human chorionic gonadotropin (HCG) stimulation test was conducted, which allowed us to rule out defects in testosterone biosynthesis and enzyme defects in dihydrotestosterone production; the main suspected diagnosis was partial androgen insensitivity syndrome (PAIS). A multidisciplinary medical meeting was held, accepting the patient's desire to opt for the male gender, after acceptance by the parents. Thus, the patient underwent bilateral orchidopexy and genitoplasty. He is currently receiving therapy with testosterone, with an adequate response to the treatment and the molecular study confirmed the androgen-receptor gene mutation. In conclusion, we highlight the importance of a timely multidisciplinary diagnosis and management of disorders of sexual differentiation to avoid premature gender assignment and major social and family repercussions that it implies.
OBJECTIVE: In pheochromocytomas, accelerated catecholamine production can cause secondary diabetes. The gene responsible for multiple endocrine neoplasia type 2 (MEN2)-related pheochromocytomas is the RET proto-oncogene. The objective of this report is to describe a unique case of surgical remission of misdiagnosed type 2 diabetes mellitus (T2DM) in a woman with bilateral pheochromocytoma and RET proto-oncogene mutation. METHODS: Clinical examination, urinary metanephrine level, triple-phase abdominal computed tomography (CT) with adrenal protocol, positron emission tomography with 18F-fluorodeoxyglucose integrated with CT, surgical pathology, and genetic testing were performed. RESULTS: A 46-year-old woman with a 5-year history of apparent T2DM complicated by neuropathy, without a contributory family history, presented with occasional headaches, weight loss, and abdominal pain. A 24-hour urinary metanephrine of 5 mg (reference range, 0.05-1 mg) was found. Abdominal CT showed bilateral adrenal masses with <60% washout. Positron emission tomography with 18F-fluorodeoxyglucose integrated with CT showed a left solid-cystic lesion with low metabolic activity and a right nodular lesion with a higher metabolic activity, which was conclusive of bilateral pheochromocytoma. The remission of diabetes was achieved 1 year after a bilateral adrenalectomy. In addition, a multinodular goiter was found, and a fine-needle aspiration biopsy confirmed that it was a medullary thyroid carcinoma. A heterozygous pathogenic variant of the RET proto-oncogene was found and MEN2A was confirmed. CONCLUSION: This is the first report of a patient with a RET proto-oncogene mutation experiencing remission of diabetes after surgical resection of bilateral pheochromocytomas. Timely recognition and treatment of the underlying condition are important to potentially achieve diabetes remission and prevent its long-term complications.
Adrenal hemorrhage is the most common cause of adrenal mass in newborns. We present a case of a full-term male, born by cesarean section due to acute fetal distress from a mother with severe coronavirus disease 2019 (COVID-19) infection. He was diagnosed with hypoxic-ischemic encephalopathy, multifactorial shock, and early neonatal sepsis. On the seventh day of hospitalization, hemoglobin dropped and thus blood transfusion was required, and abdominal ultrasound showed bilateral adrenal hemorrhage. He developed relative adrenal insufficiency without either hemodynamic instability or electrolyte imbalances. The use of parenteral corticosteroids was not required. Follow-up ultrasonography and adrenal axis laboratory examination revealed complete resolution of adrenal hemorrhage. Neonatal adrenal hemorrhage has a wide variety of clinical manifestations. Ultrasound is preferred for both initial screening and follow-up evaluation. Adrenal insufficiency occurs rarely in neonatal adrenal hemorrhage. Treatment is usually conservative. We emphasize the importance of a timely diagnosis and clinical follow-up of adrenal hemorrhage in neonates with fetal distress born from mothers with severe COVID-19.
