As consequências irreversíveis do diagnóstico tardio de macroadenoma de hipófise em paciente jovem / The irreversible consequences of late diagnosis of pituitary macroadenoma in a young patient

Resumo Os tumores de hipófise representam aproximadamente 15% de todos os tumores cerebrais e dependendo do tamanho, pressionam o quiasma óptico, resultando em comprometimento da função visual que se manifesta como defeitos no campo visual, diminuição da acuidade visual e da visão das cores. O objetivo do presente estudo foi relatar um caso de macroadenoma de hipófise com compressão do quiasma óptico e defeito no campo visual, tratado inicialmente como glaucoma, levando a um diagnóstico e tratamento tardio.

Abstract Pituitary tumors represent approximately 15% of all brain tumors and depending on size, pressure optic chiasma, resulting in impaired visual func-tion that manifests itself as defective in the visual field, decreased acuity visual and color vision. The ob-jetive of the present study was to report a case of pitui-tary macroadenoma with compression of optical chiasma and visual field de-fect, initially treated as glaucoma, leading to a late diagnosis and treatment.

Estudios clínicos y genéticos en tres miembros de una familia afectados con adenomas hipofisarios aislados con prolactinomas homogéneos / Clinical and genetic studies of a three-member familial isolated pituitary adenoma with homogeneous prolactinomas

La mayoría de los adenomas hipofisarios son esporádicos, pero un 3-5% puede ocurrir en un contexto familiar y hereditario. Este es el caso de la neoplasia endocrina múltiple de tipo 1 (NEM1), complejo de Carney (CNC) y adenomas hipofisarios aislados familiares (FIPA). El FIPA es una condición infrecuente, que ocurre en un contexto familiar, no asociada a NEM t ipo1 ni CNC. Los FIPA pueden ser homogéneos (todos los adenomas tienen el mismo fenotipo) o heterogéneos (diferente fenotipo tumoral). Describimos una familia congolesa en la que dos hermanas y una prima fueron diagnosticadas a los 29, 32 y 40 años, respectivamente, con un prolactinoma (FIPA homogéneo). Las pacientes presentaron macroadenomas no invasivos al momento del diagnóstico, con buena respuesta biológica y tumoral al tratamiento con cabergolina hasta una dosis máxima de 1.5 mg/semanal. De las dos hermanas, una cursó un embarazo sin complicaciones. Durante el seguimiento de 12 años, ninguna de ellas presentó elementos clínicos o biológicos compatibles con NEM1 o CNC, por lo que dichos genes no se estudiaron. El análisis genético en dos de las pacientes permitió descartar la posibilidad de una mutación germinal del gen aryl hydrocarbon receptor interacting protein (AIP). Se considera que el 80% de los pacientes con FIPA no presentan mutación del gen AIP, por lo que se requieren futuros estudios en este tipo de familias, para poder determinar otros genes afectados involucrados en su fisiopatología.

Most pituitary adenomas are sporadic, but 3-5% can occur in a family and hereditary context. This is the case of multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and familial isolated pituitary adenomas (FIPA). FIPA is an infrequent condition that occurs in a family context, not associated with MEN type1 or CNC. FIPA kindred can be homogeneous (all adenomas affected in the family having the same tumor phenotype) or heterogeneous (different tumor phenotypes in the affected members). We describe a Congolese family in which two sisters and a cousin were diagnosed with a prolactinoma (homogenous FIPA) at the ages of 29, 32 and 40 years, respectively. The patients presented with macroadenomas at the time of diagnosis, non-invasive tumors and good biological response to cabergoline treatment (maximum dose of 1.5 mg/weekly). Of these two sisters, one went through a pregnancy without complications. Because no MEN1 and CNC clinical and biochemical features were detected during the 12-year follow-up, these genes were not investigated. The genetic analysis of the aryl hydrocarbon receptor interacting protein (AIP) was normal. As nearly 80% of patients with FIPA do not have a mutation in the AIP gene, future studies in these families are required to identify other affected genes involved in their physiopathology.

Pituitary tumor resection in a patient with SARS-CoV-2 (COVID-19) infection. A case report and suggested airway management guidelines / Assistência perioperatória de paciente com infecção pelo SARS-CoV-2 (COVID-19) submetido a ressecção de tumor de hipófise urgente. Relato de caso e diretrizes para manejo de via aérea

Abstract The 2020 pandemic caused by the novel coronavirus, COVID-19, had its headquarters in China. It causes Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) and presents a broad spectrum of clinical manifestations, ranging from entirely asymptomatic through severe acute respiratory failure and death. Presuming a significant quantity of ventilator-dependent patients, several institutions strategically delayed elective surgeries. Particularly procedures performed involving the nasal mucosa, such as a transsphenoidal approach of the pituitary gland, considering the tremendous level of viral shedding. Nevertheless, critical cases demand expeditious resolution. Those situations are severe pituitary apoplexy, declining consciousness level, or risk of acute visual loss. This case presents a successful urgent perioperative management of a 47 year-old male COVID-19 positive patient who presented to the Emergency Department with a left frontal headache that culminated with diplopia, left eye ptosis, and left visual acuity loss after 5 days. Transsphenoidal hypophysectomy was uneventfully performed, and the patient was discharged from the hospital on postoperative day four. It additionally describes in detail the University of Mississippi Medical Center airway management algorithm for patients infected with the novel coronavirus who need emergent surgical attention.

Resumo A pandemia de 2020 causada pelo novo coronavírus, COVID-19, teve seu epicentro na China. Causa Síndrome Respiratória Aguda Grave pelo Coronavírus 2 (SARS-CoV-2) e apresenta um amplo espectro de manifestações clínicas, que vão desde nenhum sintoma a insuficiência respiratória aguda grave e óbito. Com a expectativa de um número significativo de pacientes dependentes de ventilador, várias instituições estrategicamente adiaram cirurgias eletivas. Esse é o caso principalmente de procedimentos envolvendo a mucosa nasal, como a via transesfenoidal para a hipófise, devido ao nível imenso de disseminação de material viral. Não obstante, casos críticos requerem resolução acelerada. Essas situações são grave apoplexia hipofisária, diminuição do nível de consciência ou risco de perda visual aguda. O presente caso relata o manejo perioperatório bem sucedido de urgência de paciente do sexo masculino de 47 anos de idade com COVID-19 que chegou ao Pronto Socorro com cefaleia frontal à esquerda que culminou com diplopia, ptose do olho esquerdo e perda de acuidade visual à esquerda após 5 dias. A hipofisectomia transesfenoidal ocorreu sem intercorrências e o paciente recebeu alta do hospital no quarto dia do pós-operatório. Adicionalmente, descrevemos em detalhe o algoritmo de manejo de via aérea da University of Mississippi Medical Center para pacientes infectados pelo novo coronavírus e que necessitam de atenção cirúrgica de emergência.

Adenoma hipofisario ectópico del seno esfenoidal persistente tras cirugía manejado con tratamiento conservador / Ectopic pituitary adenoma in the sphenoid sinus persistent after surgery managed with conservative treatment

Los adenomas hipofisarios ectópicos (EPA) constituyen un reto diagnóstico, dada su escasa prevalencia y variada presentación en la que puede incluirse un síndrome de hipersecreción de hormonas hipofisarias. La clínica suele ser larvada e inespecífica, no presentan ninguna característica radiológica diferencial y el diagnóstico habitualmente es anatomopatológico. Sin embargo, a pesar de ser tumores benignos, pueden presentar un comportamiento agresivo, con invasión ósea y difícil resección completa, por lo que un diagnóstico de sospecha precoz podría resultar en un tratamiento más eficaz y con un menor número de complicaciones. Presentamos el caso de una paciente con un adenoma hipofisario ectópico silente en el seno esfenoidal con inmunohistoquímica positiva para Hormona de crecimiento (GH) y prolactina que presentaba restos tumorales tras la intervención quirúrgica y ha sido manejada con tratamiento médico conservado, con buenos resultados.

Ectopic pituitary adenomas constitute a diagnostic challenge, given their low prevalence and varied presentation in which a pituitary hormone hypersecretion syndrome may be included. Clinical symptoms are usually latent and nonspecific, they have no differential radiological characteristics and the diagnosis is usually anatomopathological. However, despite being benign tumors, they can exhibit aggressive behavior, with bone invasion and difficult complete resection, so a diagnosis of early suspicion could result in more effective treatment and fewer complications. We present the case of a patient with a silent ectopic pituitary adenoma in the sphenoid sinus with positive immunohistochemistry for Growth Hormone (GH) and prolactin who had tumor remnants after surgery and was managed with conservative medical treatment, with good results.

Macroprolactinoma clival ectópico: una forma rara de presentación de adenoma hipofisario / Ectopic clival macroprolactinoma: a rare presentation of pituitary adenoma

Los adenomas pituitarios son los tumores hipofisarios más frecuentes siendo una entidad rara cuando se trata de adenomas ectópicos, es decir, sin conexión con la glándula pituitaria. Se cree que derivan de células residuales del tracto de migración embriológico desde la bolsa de Rathke. Su presentación clínica es muy variable porque depende de la producción hormonal y del efecto masa en estructuras adyacentes. Generalmente suponen un reto diagnóstico debido a su baja frecuencia, la clínica variable de presentación y que no presentan características específicas en las pruebas de imagen. Generalmente el diagnóstico se realiza de manera retrospectiva tras la resección quirúrgica. Presentamos el caso de un varón de 56 años que se presentó con unos valores de prolactina de 6647.5 ng/ml (2.2-17.7) con clínica de hipogonadismo aislada que se resolvió con tratamiento médico sin precisar resección quirúrgica, con una disminución de la densidad radiológica y estabilización del tamaño y sin clínica compresiva ni alteración visual.

Pituitary adenomas are the most common hypophyseal tumors being a rare entity when they are ectopic, without connection to the pituitary gland. They are thought to arise from residual cells in the migration tract from Rathke´s pouch. Its clinical presentation is variable depending on the hormonal production and the pressure effect on adjacent structures. They usually are a diagnostic challenge due to their low frequency, wide range of clinical presentation and not showing specific features on imaging techniques. The diagnosis is made usually retrospectively after surgical resection. We report the case of a 56 years old male that presented with a prolactine value of 6647.5 ng/ml (2.2-17.7) and isolated hypogonadism symptoms that resolved with medical treatment without surgery, diminishing the radiological density and stabilizing the size without having compresive symptoms nor visual disturbances.

Anticuerpos anti-estreptavidina: Confusión diagnóstica por interferencia bioquímica / Anti-estreptavidin antibodies. Diagnostic confusion by biochemical interference

Se presenta el caso de una paciente que, durante los estudios por búsqueda de fertilidad y posterior embarazo, mostraba un perfil tiroideo alterado con niveles elevados de T4 libre y TSH normal. Luego de descartar un adenoma tirotropo y ante la ausencia de sintomatología clínica de hipertiroidismo, se investigó la posibilidad de interferencias analíticas en los inmunoensayos utilizados para la medición de las hormonas. Se han descrito interferencias causadas por anticuerpos heterófilos, macro TSH, anticuerpos anti-tiroideos, biotina, y en menor medida anticuerpos anti-estreptavidina y anti-rutenio. Los análisis de la paciente se realizaron en autoanalizador cuya plataforma emplea el sistema estreptavidina-biotina que es muy susceptible a varios interferentes. Un algoritmo propuesto incluye una serie de pruebas simples de realizar e interpretar que permiten detectar o descartar la presencia de interferentes. De acuerdo al mismo, se efectuó la comparación con una plataforma analítica diferente (que no utiliza el sistema estreptavidina-biotina), diluciones seriadas, precipitación con polietilenglicol 6000 y tratamiento con micropartículas recubiertas con estreptavidina. Los resultados obtenidos confirmaron la presencia de anticuerpos anti-estreptavidina en el suero de la paciente. Ante discordancias entre las manifestaciones clínicas y los resultados de laboratorio, se debe investigar la posibilidad de interferencias metodológicas para evitar el riesgo iatrogénico potencial que implica una interpretación bioquímica errónea.

We present the case of a patient who, during studies for fertility and subsequent pregnancy, showed an altered thyroid profile with elevated levels of free T4 and normal TSH. After ruling out a thyrotropic adenoma and in the absence of clinical symptoms of hyperthyroidism, the possibility of analytical interference in the immunoassays used to measure hormones was investigated. Interferences caused by heterophile antibodies, macro TSH, anti-thyroid antibodies, biotin, and to a lesser extent anti-streptavidin and anti-ruthenium antibodies have been described. The analysis of the patient was carried out in a self-analyzer whose platform uses the streptavidin-biotin system that is very susceptible to several interferents. A proposed algorithm includes a series of simple tests to perform and interpret that allow detecting or ruling out the presence of interferents. Accordingly, a comparison was made with a different analytical platform (which does not use the streptavidin-biotin system), serial dilutions, precipitation with polyethylene glycol 6000 and treatment with microparticles coated with streptavidin. Results obtained confirmed the presence of anti-streptavidin antibodies in the patient's serum. In the case of disagreements between clinical manifestations and laboratory results, the possibility of methodological interferences should be investigated in order to avoid the potential iatrogenic risk involved in an erroneous biochemical interpretation.

Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)

ABSTRACT Introduction Gigantism is a rare pediatric disease characterized by increased production of growth hormone (GH) before epiphyseal closure, that manifests clinically as tall stature, musculoskeletal abnormalities, and multiple comorbidities. Materials and methods Case series of 6 male patients with gigantism evaluated at the Endocrinology Service of Hospital de San José (Bogotá, Colombia) between 2010 and 2016. Results All patients had macroadenomas and their mean final height was 2.01 m. The mean age at diagnosis was 16 years, and the most common symptoms were headache (66%) and hyperhidrosis (66%). All patients had acral changes, and one had visual impairment secondary to compression of the optic chiasm. All patients underwent surgery, and 5 (83%) required additional therapy for biochemical control, including radiotherapy (n = 4, 66%), somatostatin analogues (n = 5, 83%), cabergoline (n = 3, 50%), and pegvisomant (n = 2, 33%). Three patients (50%) achieved complete biochemical control, while 2 patients showed IGF-1 normalization with pegvisomant. Two patients were genetically related and presented a mutation in the aryl hydrocarbon receptor-interacting protein (AIP) gene (pathogenic variant, c.504G>A in exon 4, p.Trp168*), fulfilling the diagnostic criteria of familial isolated pituitary adenoma. Conclusions This is the largest case series of patients with gigantism described to date in Colombia. Transsphenoidal surgery was the first-choice procedure, but additional pharmacological therapy was usually required. Mutations in the AIP gene should be considered in familial cases of GH-producing adenomas.

Adenomas hipofisarios en pacientes añosos / Pituitary adenomas in elderly patients

Se evaluó la presentación clínica, tratamiento y sus resultados durante el seguimiento prolongado de 37 pacientes mayores de 65 años con adenomas hipofisarios, y sus causas de muerte. El estudio fue retrospectivo y transversal. La prevalencia de incidentalomas fue 43% (16), macroadenomas 70.3% (26) y adenomas gigantes 16.2% (6). El fenotipo tumoral más frecuente fue el adenoma no funcionante (76%). La prevalencia de alteraciones en el campo visual y síntomas neurológicos fue 56% y 57% respectivamente. El 54% tuvo función hipofisaria normal, deficiencia parcial el 30% y panhipopituitarismo el 16%. Fueron tratados 32, 5 se perdieron en el seguimiento sin recibir tratamiento. Indicamos cirugía en 18. De los operados por vía transesfenoidal, el 23% tuvo complicaciones postquirúrgicas y el 54% mejoría del campo visual. Por vía transcraneal el 50% sufrió complicaciones post quirúrgicas y el 33% mejoró el campo visual. Durante el seguimiento (55.1 ± 48.7 meses) no observamos recrecimiento tumoral, excepto en un adenoma gigante. Cuatro pacientes operados murieron, dos por causas al tumor. Catorce no fueron operados, 11 con adenomas no funcionantes y campo visual normal fueron controlados periódicamente y 3 con adenomas funcionantes recibieron tratamiento médico. No observamos crecimiento tumoral durante el seguimiento (43.7 ± 38.1 meses). No observamos crecimiento tumoral en adenomas no funcionantes y campo visual normal, por lo que sugerimos conducta expectante y control periódico. Cuando existe alteración del campo visual, la cirugía transesfenoidal es segura y efectiva. En los adenomas secretantes y dependiendo de las comorbilidades, sería apropiado optar por tratamiento médico.

Clinical presentation, treatment and its results were evaluated during long-term follow-up of 37 patients older than 65 years with pituitary adenoma. Causes of death were also evaluated. It was a retrospective and cross-sectional study. Prevalence of incidentalomas was 43% (16), macroadenomas 70.3% (26) and giant adenomas 16.2% (6). The most frequent tumor phenotype was the non-functioning adenoma (76%). The prevalence of visual field defects and neurological symptoms was 56% and 57% respectively. We found normal pituitary function in 54%, partial deficiency in 30% and panhypopituitarism in 16%. Thirty-two patients were treated, 5 were lost to follow-up without receiving treatment. Surgery was indicated in 18. Of those operated by trans-sphenoidal approach, 23% had postsurgical complications and 54% improved the visual field. By trans-craneal approach, 50% had post-surgical complications and 33% visual field improvement. During follow-up (55.1 ± 48.7 months) no tumor regrowth was observed, except in a giant adenoma. Four operated patients died, two due to causes related to tumor. Fourteen were not operated, 11 with non-functioning adenoma and normal visual field were periodically controlled and 3 with secreting adenomas received medical treatment. No tumor growth was observed during follow-up (43.7 ± 38.0 months). We did not observe tumor progression in elderly patients with non-functioning adenoma and normal visual field, so we suggest watchful approach and periodic control. When there are visual field defects, trans-sphenoidal surgery can be considered safe and effective. In secreting adenomas and depending on the associated comorbidities, medical treatment would be the appropriate approach.

Pituitary adenomas in elderly patients

Clinical presentation, treatment and its results were evaluated during long-term follow-up of 37 patients older than 65 years with pituitary adenomas. Causes of death were also evaluated. It was a retrospective and cross-sectional study. Prevalence of incidentalomas was 43% (16), macroadenomas 70.3% (26) and giant adenomas 16.2% (6). The most frequent tumor phenotype was the non-functioning adenoma (76%). The prevalence of visual field defects and neurological symptoms was 56% and 57%, respectively. We found normal pituitary function in 54%, partial deficiency in 30% and panhypopituitarism in 16%. Thirty-two patients were treated, 5 were lost to follow-up without receiving treatment. Surgery was indicated in 18. Of those operated by trans-sphenoidal approach, 23% had postsurgical complications and 54% improved the visual field. By trans-craneal approach, 50% had post-surgical complications and 33% visual field improvement. During follow-up (55.1 ± 48.7 months) no tumor regrowth was observed, except in a giant adenoma. Four operated patients died, two due to causes related to tumor. Fourteen were not operated, 11 with non-functioning adenomas and normal visual field were periodically controlled, and 3 with secreting adenomas received medical treatment. No tumor growth was observed during follow-up (43.7 ± 38.1 months). We did not observe tumor progression in elderly patients with non-functioning adenomas and normal visual field, so we suggest watchful approach and periodic control. When there are visual field defects, trans-sphenoidal surgery can be considered safe and effective. In secreting adenomas and depending on the associated comorbidities, medical treatment would be the appropriate approach.

Se evaluó la presentación clínica, tratamiento y sus resultados durante el seguimiento prolongado de 37 pacientes mayores de 65 años con adenomas hipofisarios, y sus causas de muerte. El estudio fue retrospecti vo y transversal. La prevalencia de incidentalomas fue 43% (16), macroadenomas 70.3% (26) y adenomas gigantes 16.2% (6). El fenotipo tumoral más frecuente fue el adenoma no funcionante (76%). La prevalencia de alteraciones en el campo visual y síntomas neurológicos fue 56% y 57% respectivamente. El 54% tuvo función hipofisaria normal, deficiencia parcial el 30% y panhipopituitarismo el 16%. Fueron tratados 32, 5 se perdieron en el seguimiento sin recibir tratamiento. Indicamos cirugía en 18. De los operados por vía transesfenoidal, el 23% tuvo complicaciones postquirúrgicas y el 54% mejoría del campo visual. Por vía transcraneal el 50% sufrió complicaciones post quirúrgicas y el 33% mejoró el campo visual. Durante el seguimiento (55.1 ± 48.7 meses) no observamos recrecimiento tumoral, excepto en un adenoma gigante. Cuatro pacientes operados murieron, dos por causas al tumor. Catorce no fueron operados, 11 con adenomas no funcionantes y campo visual normal fueron controlados periódicamente y 3 con adenomas funcionantes recibieron tratamiento médico. No observamos crecimiento tumoral durante el seguimiento (43.7 ± 38.1 meses). No observamos crecimiento tumoral en adenomas no funcionantes y campo visual normal, por lo que sugerimos conducta expectante y control periódico. Cuando existe alteración del campo visual, la cirugía transesfenoidal es segura y efectiva. En los adenomas secretantes y dependiendo de las comorbilidades, sería apropiado optar por tratamiento médico.

Presentación atípica de un prolactinoma gigante en un adolescente de 15 años / Atypical presentation of a giant prolactinoma in a 15-year-old boy

El prolactinoma gigante es un adenoma pituitario poco frecuente caracterizado por su gran invasión local. Se reporta el caso de un varón de 15 años de edad con dolor retroocular izquierdo y exoftalmos ipsilateral de 4 meses de evolución secundario a un tumor en la base del cráneo que invadía la órbita. Los estudios hormonales revelaron prolactina sérica de 6913,7 ng/ml (valor normal < 20), que confirmó el diagnóstico de prolactinoma gigante. El paciente inició un tratamiento con el agonista dopaminérgico cabergolina en dosis crecientes. Luego de 7 meses de seguimiento, la prolactina había descendido a 349,8 ng/ml y el volumen del tumor se redujo un 70%, sin efectos adversos al tratamiento. El paciente se encontraba asintomático y había reiniciado la pubertad. La rápida remisión de los síntomas sin necesidad de tratamientos invasores subraya la importancia de considerar el diagnóstico de prolactinoma entre los posibles diagnósticos diferenciales de tumor de la base del cráneo.

Giant prolactinomas are rare pituitary adenomas characterized by their great local invasion. In this paper, we report a 15-year-old male with left retro-ocular pain and ipsilateral exophthalmos of 4 months of evolution, secondary to a tumour in the base of the skull that invaded the orbit. Hormonal studies revealed serum prolactin of 6913,7 ng/ml (normal value < 20), confirming the diagnosis of giant prolactinoma. The patient started treatment with the dopaminergic agonist cabergoline in increasing doses. After 7 months of follow-up the prolactin had decreased to 349.8 ng/ml and the tumor volume was reduced by 70%, without presenting adverse effects to the treatment. The patient was asymptomatic and had restarted puberty. The rapid remission of symptoms without the need for invasive treatments underlines the importance of considering the diagnosis of prolactinoma among the possible differential diagnoses of tumor of the skull base.

Acromegaly: a rare disease?

Acromegaly is generally considered a benign and uncommon disease. However, some recent data bring support to the idea that it is more frequent than previously thought. Besides, acromegaly can significantly shorten the length of life due to its cardiovascular and metabolic complications. Since its clinical signs are insidiously progressive for many years, there is a considerable delay in its detection. Usually, many different specialists have been consulted before reaching diagnosis of acromegaly. Those specialists include cardiologists, pulmonologists, dentists, rheumatologists, and diabetes specialists. Possible means to achieve earlier detection are based on increasing awareness of doctors and the public in general. In this paper, the author analyzes the factors related to delayed diagnosis and the potential ways to ameliorate awareness of the disease with particular attention to screening procedures.

Existe la idea generalizada de que la acromegalia es una enfermedad benigna e infrecuente. Sin embargo, el paciente acromegálico ve comprometida su vida a causa de complicaciones cardiovasculares y metabólicas. Por otra parte, trabajos recientes muestran que su frecuencia parece mucho mayor que lo supuesto previamente. Dado que los signos y síntomas de la enfermedad se instalan lenta e insidiosamente, existe una demora considerable en su diagnóstico. Habitualmente, los pacientes han consultado diversos especialistas antes de que el trastorno sea detectado. Los mismos incluyen cardiólogos, neumonólogos, odontólogos, reumatólogos y diabetólogos. Un camino posible para lograr una detección temprana es el incremento del grado de concientización de los médicos y de la comunidad. En este artículo se analizan los factores vinculados al retraso diagnóstico y los medios posibles para mejorar el conocimiento y detección precoz de la enfermedad.

Controversial issues in the management of hyperprolactinemia and prolactinomas - An overview by the Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism

ABSTRACT Prolactinomas are the most common pituitary adenomas (approximately 40% of cases), and they represent an important cause of hypogonadism and infertility in both sexes. The magnitude of prolactin (PRL) elevation can be useful in determining the etiology of hyperprolactinemia. Indeed, PRL levels > 250 ng/mL are highly suggestive of the presence of a prolactinoma. In contrast, most patients with stalk dysfunction, drug-induced hyperprolactinemia or systemic diseases present with PRL levels < 100 ng/mL. However, exceptions to these rules are not rare. On the other hand, among patients with macroprolactinomas (MACs), artificially low PRL levels may result from the so-called "hook effect". Patients harboring cystic MACs may also present with a mild PRL elevation. The screening for macroprolactin is mostly indicated for asymptomatic patients and those with apparent idiopathic hyperprolactinemia. Dopamine agonists (DAs) are the treatment of choice for prolactinomas, particularly cabergoline, which is more effective and better tolerated than bromocriptine. After 2 years of successful treatment, DA withdrawal should be considered in all cases of microprolactinomas and in selected cases of MACs. In this publication, the goal of the Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism (SBEM) is to provide a review of the diagnosis and treatment of hyperprolactinemia and prolactinomas, emphasizing controversial issues regarding these topics. This review is based on data published in the literature and the authors' experience.

Oncocitoma fusocelular hipofisario / Pituitary spindle cell oncocytoma

El oncocitoma fusocelular es una neoplasia selar primaria no endocrina infrecuente, de curso clínico benigno. Debido a su similitud morfológica con los adenomas hipofisarios, considerar al oncocitoma como diagnóstico diferencial lleva a un abordaje quirúrgico cuidadoso, con el objetivo de evitar el sangrado intraquirúrgico y lograr la resección más completa posible, de la que parecería depender la evolución a largo plazo. Se presenta el caso de un hombre de 60 años que consultó por alteración campimétrica. La evaluación bioquímica evidenció panhipopituitarismo y la resonancia magnética (RM) una lesión selar. Se indicó tratamiento quirúrgico por compromiso visual con diagnóstico presuntivo de macroadenoma hipofisario no funcionante. El diagnóstico anatomopatológico fue compatible con oncocitoma fusocelular. En la RM selar, postquirúrgica (a los 5 meses), se observó remanente tumoral y se decidió realizar radiocirugía, constatándose en las subsiguientes RM disminución tumoral sin evidencia de remanente ni recidiva en 4 años de seguimiento. La comunicación de nuevos casos de esta entidad permitirá aumentar la disponibilidad de evidencia y ayudará a determinar la eficacia de los tratamientos disponibles y el pronóstico.

Spindle cell oncocytoma is an infrequent benign non-endocrine sellar neoplasm. Due to its similar morphology to pituitary adenomas, consideration of this differential diagnosis would conduce to a more careful surgical approach in order to avoid intraoperative bleeding and aiming to a complete resection, on which depends long-term outcomes. We present the case of a 60-year-old male who complained about visual abnormalities, with computerized visual field confirmation. On biochemistry, a panhypopituitarism was detected. The brain magnetic resonance images showed a sellar mass. A non-functioning pituitary macroadenoma was presumptively diagnosed and due to the visual impairment, surgical transesphenoidal treatment was indicated. The histological diagnosis was spindle cell oncocytoma. Five months after surgery, the control image demonstrated a lesion that was considered as remnant tumor, hence radiosurgery was performed. During the follow-up, the tumor reduced its size and four years after initial treatment, the sellar resonance imaging showed disappearance of the residual tumor. Communication of new cases of this rare entity will enlarge the existing evidence and will help to determinate the most effective treatment and prognosis.

Hipercortisolismo cíclico por adenoma hipofisario / Cyclic hypercortisolism due to pituitary adenoma

A case study of a 41 years old woman with cyclic hypercortisolism is explained. AT the beginning, its manegment was shrinking the tumor, however afterward she needs medical treatment during cycles. The fluctuating clinical and discrepant bioquemical findings make it hard to diagnose. A review of this rare disorder is explained.

Asociación de craneofaringioma y síndrome de Klinefelter en la transición puberal: un desafío diagnóstico / Craniopharyngioma and Klinefelter syndrome during the pubertal transition: A diagnostic challenge

Los craneofaringiomas son de los tumores hipofisarios más frecuentes en la niñez y, sea por su evolución o por el tratamiento que requieren, pueden comprometer el desarrollo puberal. El síndrome de Klinefelter es la causa más frecuente de hipogonadismo hipergonadotrópico en el varón. La presentación concomitante de ambas entidades es extremadamente baja (1/10(9)) y plantea un interrogante acerca de una probable asociación fisiopatológica. Se presenta el caso de un paciente belga de 18 años, con diagnóstico de craneofaringioma en la niñez y panhipopituitarismo luego del tratamiento quirúrgico y radioterápico. Al llegar a los 14 años, se inició la inducción puberal con gonadotropinas. Ante la falta de respuesta clínica, se completó una evaluación genética, que evidenció, de manera homogénea, una trisomía XXY. La falta de respuesta al tratamiento de inducción con gonadotropina exógena reveló la asociación de hipogonadismo primario y secundario, que demostró la importancia del seguimiento multidisciplinario que estos pacientes requieren.

Craniopharyngioma is the most common pituitary tumor in childhood. It can compromise the pubertal development because of its evolution or treatment. Syndrome of Klinefelter is the most common cause of hipergonadotrophic hypogonadism in males. The concomitant presentation of both entities is extremely low (1/10(9)) and the pathophysiological association is questionned. We present the case of a 18-year-old Belgian patient. He had a diagnosis of craniopharyngioma in childhood and he presented with panhypopituitarism after radiotherapy and surgical treatment. At the age of 14, he started pubertal induction with gonadotropin therapy without clinical response. A genetic evaluation confirmed a homogeneous 47, XXY karyotype. Failure of exogenous gonadotropin therapy revealed the hidden association of primary and secondary hypogonadism, demonstrating the importance of the followup and a multidisciplinary approach in these patients.

IRM des pathologies sellaires et supra sellaires à Abidjan: à propos de 65 cas

Objectif : Déterminer la prévalence des pathologies hypophysaires retrouvées au décours des IRM réalisées au service de Radiodiagnostic et Imagerie Médicale du CHU de Treichville.Matériel et méthode : il s'agissait d'une étude rétrospective descriptive effectuée sur une période de 48 mois allant de janvier 2011 à décembre 2014 dans le service de Radiodiagnostic et Imagerie Médicale du CHU de Treichville. Cette étude était basée sur l'analyse des comptes rendus d'IRM hypophysaire effectués chez des patients qui étaient admises dans le service.Résultats : Ces patients étaient majoritairement de sexe féminin avec un sex ratio de 0,51. Leur âge variait de 18 à 61 ans avec une moyenne de 32,5 ans. Sur 638 IRM crânio encéphaliques qui avaient été réalisées, nous avions identifié 65 cas de pathologies hypophysaires soit 10,18% de l'ensemble des pathologies crânio encéphaliques. Il s'agissait essentiellement d'adénomes dans 92% des cas. Parmi les adénomes hypophysaires, les macroadénomes prédominaient soit 57%. Les céphalées étaient les indications les plus rencontrées. L'extension des adénomes hypophysaires se faisait au niveau des sinus sphénoïdaux, des sinus caverneux et au niveau du chiasma optique. Le sinus caverneux était atteint dans 57,14% et le chiasma optique dans 71,43% des cas.Conclusion : Les pathologies hypophysaires représentaient environ 10% des pathologies crânio encéphaliques et étaient dominées par les causes tumorales notamment les adénomes. L'IRM reste la méthode d'Imagerie de référence dans l'exploration des pathologies sellaires et supra sellaires notamment pour le diagnostic positif et pour le bilan d'extension

Pituicitoma hipofisario, un hallazgo diagnóstico inusual: reporte de caso / Pituitary pituicytoma, finding of an unusual diagnosis: a case report

Los pituicitomas son tumores infrecuentes de la región selar y supraselar, originados de la neurohipófisis, que suelen ser confundidos con otros tumores al compartir características imaginológicas. Se reporta el caso de una mujer de 36 años de edad, con un pituicitoma en la región selar, que fue diagnosticado como un adenoma hipofisario debido a los hallazgos clínicos e imaginológicos preoperatorios y se realiza una revisión de la literatura.

The Pituicytomas are rare tumors of the sellar and suprasellar region originated of the neurohypophysis and are usually confused with other tumors when sharing imagining features. It is reported a case of a 36 years old woman with pituicytoma in the sellar region that was diagnosed as a pituitary adenoma due to the presurgical clinical and imaging findings and, it is revised the literature.

A review on the diagnosis and treatment of patients with clinically nonfunctioning pituitary adenoma by the Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism

ABSTRACT Clinically nonfunctioning pituitary adenomas (NFPA) are the most common pituitary tumors after prolactinomas. The absence of clinical symptoms of hormonal hypersecretion can contribute to the late diagnosis of the disease. Thus, the majority of patients seek medical attention for signs and symptoms resulting from mass effect, such as neuro-ophthalmologic symptoms and hypopituitarism. Other presentations include pituitary apoplexy or an incidental finding on imaging studies. Mass effect and hypopituitarism impose high morbidity and mortality. However, early diagnosis and effective treatment minimizes morbidity and mortality. In this publication, the goal of the Neuroendocrinology Department of the Brazilian Society of Endocrinology and Metabolism is to provide a review of the diagnosis and treatment of patients with NFPA, emphasizing that the treatment should be performed in reference centers. This review is based on data published in the literature and the authors’ experience. Arch Endocrinol Metab. 2016;60(4):374-90.

Anatomía radiológica del seno esfenoidal: análisis en 120 pacientes intervenidos / Radiologic anatomy of sphenoidal sinus, analysis of 120 surgically intervened patients

Introducción: La patología tumoral hipofisiaria es una consulta frecuente en Neurocirugía. La vía de abordaje a elegir preferentemente es transesfenoidal. Por esto, es de suma importancia conocer la anatomía de los senos paranasales cuando se planifica este abordaje. Materiales y Métodos: Se describe la anatomía radiológica de estudios por Tomografía Computada (TC) y Resonancia Magnética (RM) de 120 pacientes con diagnóstico de adenoma hipofisiario, que se sometieron a cirugía transesfenoidal de hipófisis, prestando especial interés en la morfología de las cavidades paranasales esfenoidales. Resultados: Tipo de neumatización: preselar 25 por ciento y postselar 75 por ciento; Septos: simples 45 por ciento y múltiples 55 por ciento; diámetros promedio: antero-posterior 2,3 cm, transverso: 3,3 cm y vertical: 2,25 cm. Los Senos esfenoidales con neumatización postselar tienen un diámetro anteroposterior significativamente mayor (P < 0,005) que los preselares. Los senos esfenoidales con septo simple tienen un diámetro transverso significativamente mayor (P < 0,007) que los con múltiples septos. El 50 por ciento de los septos siguen una trayectoria paramediana, y el 50 por ciento se desvía hacia una de las arterias carótidas. Conclusión: se confirma la gran variación anatómica del seno esfenoidal siendo independiente del sexo del paciente, además hemos constatado que la relación establecida por los septos intraselares con elementos vasculares intracraneales es muy variable, siendo este hallazgo de suma importancia en la planificación preoperatoria. Los hallazgos realizados por Tomografía computada (TC), pueden ser homologables a lo descrito por otros autores en disecciones cadavéricas.

Introduction: The pituitary tumor pathology is a common query in Neurosurgery. The choice of approach is transsphenoidal preferably, so it is extremely important to know the anatomy of the sinuses when planning this approach. Materials and Methods: We describe the radiological anatomy studies Computerized tomography (CT) and Magnetic Resonance (MR) of 120 patients with pituitary adenoma who underwent transsphenoidal pituitary surgery, with special attention to the morphology of the sphenoid sinuses. Results: Neumatization type: pre-sellar 25 percent and 75 percent post-sellar; Septa: Single 45 percent, multiple 55 percent, mean diameters: 2.3 cm anteroposterior, transverse: 3.3 cm and vertical: 2.25 cm. The sphenoid sinuses with postsellar neumatization have anteroposterior diameter significantly higher (P < 0.005) than the pre-sellar. The sphenoid sinuses are single septum transverse diameter significantly higher (P < 0.007) than those with multiple septa. The 50 percent of the septa paramedian follow a path, and 50 percent is diverted to one of the carotid arteries. Conclusion: Results support the large sphenoid sinus anatomical variation is independent of patient sex, and we found that the relationship established by the intrasellar septa with intracranial vascular elements is very variable, this finding being paramount in preoperative planning. The findings by computed tomography (CT) may be comparable to that described by other authors in cadaveric dissections.