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INTRODUCTION: It is suggested to wait at least 3 months to repeat a fine needle aspiration cytology (FNAC) to avoid possible inflammatory cytological changes induced by a previous procedure. This study evaluated the influence of the interval between 2 FNACs in a cohort with a previous non-diagnostic (ND) FNAC. We analysed the occurrence of ND or atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS) results in the second FNAC, based on the intervals between procedures. PATIENTS AND METHODS: Retrospective study (2017-2020) including thyroid nodules with a ND result, subjected to another FNAC. Demographic, clinical and echographic data, interval between FNACs and their results were collected. We considered the intervals: ≤/>3 months and ≤/>6 months. Second FNAC results were classified as ND, AUS/FLUS or diagnostic (including the other Bethesda categories). RESULTS: Included 190 nodules (190 patients - 82.1% women, mean age 60±13.7 years) with a first ND FNAC. The second FNAC results were: ND in 63 cases, AUS/FLUS in 9 and diagnostic in 118 cases. There were no statistical differences in FNAC results performed≤3 months (13 ND, 2 AUS/FLUS, 19 diagnostic) vs >3 months (50 ND, 7 AUS/FLUS, 99 diagnostic; p=0.71). Similarly, there were no statistical differences considering a longer time interval: ≤6 months (32 ND, 3 AUS/FLUS, 59 diagnostic) vs >6 months (31 ND, 6 AUS/FLUS, 59 diagnostic; p=0.61). CONCLUSIONS: Time interval between FNACs was not relevant to the final cytological result. Early FNAC repetition did not increase the cases of ND or AUS/FLUS.
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Nódulo Tiroideo , Humanos , Femenino , Biopsia con Aguja Fina , Estudios Retrospectivos , Masculino , Persona de Mediana Edad , Nódulo Tiroideo/patología , Nódulo Tiroideo/diagnóstico por imagen , Factores de Tiempo , Anciano , Glándula Tiroides/patología , Glándula Tiroides/diagnóstico por imagen , Neoplasias de la Tiroides/patología , CitologíaRESUMEN
OBJECTIVE: Acromegaly is a disorder associated with excessive levels of growth hormone (GH) and insulin-like growth factor-1 (IGF-1). In general, GH/IGF-1 excess leads to morphologic craniofacial and acral changes as well as cardiometabolic complications, but the phenotypic changes and clinical presentation of acromegaly differ across species. Here, we review the pathophysiology, clinical presentation and management of acromegaly in humans and cats, and we provide a systematic comparison between this disease across these different species. DESIGN: A comprehensive literature review of pathophysiology, clinical features, diagnosis and management of acromegaly in humans and in cats was performed. RESULTS: Acromegaly is associated with prominent craniofacial changes in both species: frontal bossing, enlarged nose, ears and lips, and protuberant cheekbones are typically encountered in humans, whereas increased width of the head and skull enlargement are commonly found in cats. Malocclusion, prognathism, dental diastema and upper airway obstruction by soft tissue enlargement are reported in both species, as well as continuous growth and widening of extremities resulting in osteoarticular compromise. Increase of articular joint cartilage thickness, vertebral fractures and spine malalignment is more evident in humans, while arthropathy and spondylosis deformans may also occur in cats. Generalized organomegaly is equally observed in both species. Other similarities between humans and cats with acromegaly include heart failure, ventricular hypertrophy, diabetes mellitus, and an overall increased cardiometabolic risk. In GH-secreting pituitary tumours, local compressive effects and behavioral changes are mostly observed in humans, but also present in cats. Cutis verticis gyrata and skin tags are exclusively found in humans, while palmigrade/plantigrade stance may occur in some acromegalic cats. Serum IGF-1 is used for acromegaly diagnosis in both species, but an oral glucose tolerance test with GH measurement is only useful in humans, as glucose load does not inhibit GH secretion in cats. Imaging studies are regularly performed in both species after biochemical diagnosis of acromegaly. Hypophysectomy is the first line treatment for humans and cats, although not always available in veterinary medicine. CONCLUSION: Acromegaly in humans and cats has substantial similarities, as a result of common pathophysiological mechanisms, however species-specific features may be found.
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Acromegalia , Acromegalia/fisiopatología , Acromegalia/terapia , Gatos , Humanos , Animales , Factor I del Crecimiento Similar a la Insulina/metabolismo , Factor I del Crecimiento Similar a la Insulina/análisis , Enfermedades de los Gatos/fisiopatologíaRESUMEN
BACKGROUND: Programmed cell death-1 (PD-1) and PD ligand-1 (PD-L1) expression predict the biological behaviour, aggressiveness, and response to immune checkpoint inhibitors in different cancers. We reviewed the published data on PD-L1 expression in pituitary tumours from the perspective of its biological role and prognostic usefulness. SUMMARY: A literature review focused on PD-L1 expression in pituitary tumours was performed. Six immunohistochemistry-based studies which assessed PD-L1 positivity in pituitary tumours were included, encompassing 704 patients. The cohort consisted of 384 (54.5%) nonfunctioning tumours and 320 (43.5%) functioning pituitary tumours. PD-L1 expression was positive in 248 cases (35.2%). PD-L1 positivity rate was higher in functioning than in nonfunctioning tumours (46.3% vs. 26.0%; p < 0.001) but also higher in growth hormone-secreting tumours (56.7%) and prolactinomas (53.6%) than in thyrotroph (33.3%) or corticotroph tumours (20.6%). While proliferative pituitary tumours showed higher rate of PD-L1 positivity than non-proliferative tumours (p < 0.001), no association with invasion or recurrence was found. KEY MESSAGES: PD-L1 is expressed in a substantial number of pituitary tumours, predominantly in the functioning ones. PD-L1 positivity rates were significantly higher in proliferative pituitary tumours in comparison to non-proliferative tumours, but no differences were found concerning invasive or recurrent pituitary tumours. More studies following homogeneous and standardised methodologies are needed to fully elucidate the role and usefulness of PD-L1 expression in pituitary tumours.
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Antígeno B7-H1 , Neoplasias Hipofisarias , Neoplasias Hipofisarias/metabolismo , Humanos , Antígeno B7-H1/metabolismoRESUMEN
BACKGROUND: Craniopharyngioma (CP) is a rare tumor, leading to several post-treatment sequelae which may have significant clinical and social implications, including impaired academic performance or employability. METHODS: We conducted a retrospective study involving CP patients followed at our center between 1986 and 2020. Data on demographics, clinical, imaging, and treatment characteristics were collected from the clinical records. RESULTS: There were 33 patients (current mean age of 49.8±18.7 years), being 22 diagnosed in adulthood. The average follow-up duration was 16.03±9.3 years. Twelve patients were treated with surgery alone, while 21 underwent surgery and radiotherapy. Pituitary and hypothalamic deficits were more frequent in treated with surgery, whereas visual defects and metabolic diseases were more frequent in treated with surgery and radiotherapy. There were no differences between age of onset groups and type of sequelae. After diagnosis, nine patients concluded their academic training. In childhood-onset group, after diagnosis, one patient was retired, three continue studying and the others concluded schooling. In the other group, six patients were retired and two concluded schooling. There was no association between academic performance or employability and the type of treatment. CP patients academic performance was not worse comparing with general Portuguese population. CONCLUSIONS: Long-term sequelae may not be related with the age of CP onset, but may vary according to the type of treatment. There was a wide variety of clinical sequelae with extended follow-up, however academic performance and employability seemed not affected. CP diagnosis in an early period of life may not compromise the academic success of patients.
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Primary hyperparathyroidism (PHPT) can be associated with osteoporosis (OP) and fractures. We present a case of a 49-year-old male referred to our osteoporosis outpatient clinic due to a right femur osteoporotic fracture. At the age of 38, a right plantar nodular lesion was excised, and its histology was compatible with a deep dermis nodule formed by mononuclear and giant osteoclast-like cells. He has reported osteoporotic fractures since age 39 and renal colic episodes since age 45. His father had lipomas and renal colic episodes, and his paternal grandmother had lipomas. The laboratory evaluation was compatible with PHPT. A cervical ultrasound showed a 10mm single solid nodule in the left thyroid lobe, strongly hypoechogenic, with microcalcifications. Its cytology showed parathyroid tissue without atypia. Parathyroid scintigraphy had no uptake. A dual-energy X-ray absorptiometry scan showed a femoral neck Z-score of -4.3. He started alendronate/cholecalciferol (70mg/5600IU) weekly. He was submitted to a left hemithyroidectomy. Its histology showed an intrathyroidal parathyroid adenoma. Ectopic parathyroid adenomas are rare, of which 0.7%-6% are intrathyroidal. The excised foot lesion could be a brown tumour. Furthermore, calcium metabolism evaluation at that time might have allowed a PHPT diagnosis and its morbidity prevention. Osteoporotic fractures in young men must alert to secondary OP.
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Type 1 diabetes (T1D) is typically diagnosed in young people; however, it can appear at any age. Its incidence in adulthood is not as well-known as in childhood, particularly if it is diagnosed in geriatric age. T1D diagnosed in adulthood can be explained by the development of antibodies in adulthood or also by the existence of slow-disease progressors. A 71-year-old normal-weight woman presented to the Emergency Department complaining of polyuria, polydipsia, and tiredness. She was identified with hyperglycemia (450mg/dL) and high blood and urine ketone bodies. Her arterial gasometry revealed mild metabolic ketoacidosis. Further laboratory work-up was remarkable for positive anti-GAD and anti-ICA antibodies and her HbA1c was 14.1%. The diagnosis of T1D was established. A urinary infection was also identified. The patient's symptoms in association with metabolic ketoacidosis, in the presence of high titers of more than one positive T1D-related antibody, have helped us to diagnose T1D in this elderly woman. A prompt diagnosis enabled us to establish adequate diabetes treatment. The urinary infection was probably a trigger to the symptomatic phase of diabetes. T1D can be diagnosed at any age, even in elderly patients. A prompt T1D diagnosis can avoid the misdiagnosis of type 2 diabetes (T2D), enabling the beginning of correct medication earlier.
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INTRODUCTION: Results in fine-needle aspiration cytology (FNAC) of thyroid nodules may be non-diagnostic (ND). In these cases, it is recommended to repeat the FNAC. The aim of our study was to evaluate the influence of demographic, clinical and ultrasound (US) characteristics in the recurrence of an ND result in thyroid nodule FNAC. METHODS: A retrospective study of ND thyroid nodule FNAC was performed for the period 2017-2020. Demographic and clinical data (age, gender, cervical radiotherapy, presence of Hashimoto's thyroiditis, and TSH value) and US characteristics (nodule size, echogenicity, composition and microcalcifications) were collected at first ND FNAC. RESULTS: Out of 230 nodules with first ND FNAC (83% women; mean age 60.2±14.1 years), 195 (84.8%) underwent a second FNAC: 121 benign, 63 non-diagnostic, 9 indeterminate and 2 malignant. Nine (3.9%) underwent surgery, only 1 of which showed malignant histology and 26 (11.3%) remained under US monitoring. Demographically, patients with second ND FNAC were older (63.4±14 vs. 59±14 years; P=0.032). Females had lower risk of second ND FNAC (OR, 0.4, 0.2-0.9; P=0.016); risk of second ND FNAC was higher in patients treated with anticoagulant/antiplatelet drugs (OR, 2.2, 1.1-4.7; P=0.03). Previous cervical radiotherapy, family history of thyroid cancer, Hashimoto's thyroiditis and TSH value did not influence the risk of second ND FNAC. On US, nodule echogenicity differed significantly between the ND and diagnostic FNAC, with greater risk of an ND result in hypoechogenic nodules. Microcalcification increased the risk of ND FNAC (OR 2.2, 1.1-4.5; P=0.03). Nodule composition and size did not significantly differ according to ND or diagnostic second FNAC. CONCLUSION: Male gender, advanced age, anticoagulant/antiplatelet drug therapy, hypoechogenic nodules and microcalcified nodules are likely factors for second ND FNAC. Nodules with two ND FNACs were rarely malignant, and a more conservative approach in these cases is not unsafe.
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Neoplasias de la Tiroides , Nódulo Tiroideo , Tiroiditis , Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Nódulo Tiroideo/diagnóstico por imagen , Nódulo Tiroideo/patología , Biopsia con Aguja Fina/métodos , Estudios Retrospectivos , Ultrasonografía/métodos , Ultrasonografía Intervencional , Anticoagulantes , TirotropinaRESUMEN
PURPOSE: A clinicopathological classification has been designed to predict recurrence/progression in patients with pituitary adenomas (PAs). We aimed to study its usefulness in predicting PAs that will have a challenging disease course and may require more often complex multimodal and multiple therapeutic approaches. METHODS: Retrospective analysis of 129 patients with PAs operated in our institution between 2001 and 2020 (84 non-clinically functioning PAs, 32 acromegaly, 9 Cushing's disease, 2 prolactinomas and 2 thyrotropinomas). Grading was based on invasion and proliferation: 1a (non-invasive, non-proliferative; n = 59), 1b (non-invasive, proliferative; n = 17), 2a (invasive, non-proliferative; n = 38), and 2b (invasive, proliferative; n = 15). RESULTS: Of the 129 patients, 68 (52.7%) were females, and the mean age at diagnosis was 53.7 ± 15.4 years. The mean follow-up duration was 93.1 ± 61.8 months. Grade 2b PAs when compared to other grades (2b-2a-1b-1a) had significantly higher rates of persistent tumor remnant within 1-year after operation (93-78-18-30%; p < 0.001), active disease at last follow-up (40-27-12-10%; p = 0.004), re-operation (27-16-0-5%; p = 0.023), irradiation (53-38-12-7%; p < 0.001), multimodal treatment (67-49-18-25%; p = 0.003), multiple treatment (33-27-6-9%; p = 0.017). Patients with grade 2b PAs also required a higher mean number of treatments (2.6-2.1-1.2-1.4; p < 0.001). CONCLUSIONS: This clinicopathological classification appears to be a useful grading system to identify PAs that may be more refractory and more often require complex multimodal and multiple therapeutic approaches. Invasive PAs, especially grade 2b tumors, may be more likely to need complex treatment approach, including radiotherapy, and may display higher rates of active disease at last follow-up, despite receiving higher number of treatments.
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Adenoma , Neoplasias Hipofisarias , Femenino , Humanos , Adulto , Persona de Mediana Edad , Anciano , Masculino , Neoplasias Hipofisarias/patología , Estudios Retrospectivos , Portugal , Hipófisis/patología , Adenoma/patologíaRESUMEN
Introduction According to the 2014 Endocrine Society Clinical Practice Guideline on acromegaly, the confirmation of acromegaly diagnosis is established by finding a lack of suppression of growth hormone (GH) to < 1 ug/L following documented hyperglycemia during an oral glucose tolerance test. However, in this setting, the concept of hyperglycemia has never been clearly defined. Objective This study aimed to define the hyperglycemic threshold required to induce GH suppression. Methods We retrieved the glycemia profile of 44 individuals after a standard 2-h 75g oral glucose tolerance test prescribed to assess GH suppression and performed a comprehensive analysis of two subgroups of individuals (28 reaching GH suppression and 16 in whom GH suppression was not observed). All of the data were analyzed with the program Graph Pad Prism. Differences between means were assessed by Student's unpaired t-test or Mann-Whitney U test as deemed appropriate. Fisher's exact test was used for categorical variables. Results Individuals in G1 and G2 were different only for the median basal GH and median IGF-1. No significant differences in terms of the prevalence of diabetes and prediabetes were found. The glucose peak was achieved earlier in the group that reached GH suppression. The median of the highest glucose values of both subgroups was not different. A correlation between peak and baseline glucose value was found only among those in whom GH suppression was reached. Among these, the median glucose peak (P50) was 177 mg/dl, whereas the 75th percentile (P75) and 25th percentile (P25) were 199 mg/dl and 120 mg/dl, respectively. Conclusion Considering that 75% of those in whom GH suppression was observed after an oral glucose overload test reached blood glucose values above 120 mg/dl, we propose to use this value as the blood glucose threshold for inducing GH suppression. In light of our results, whenever GH suppression is not observed; and the highest glycemic value is below 120 mg/dl, it might be useful to repeat the test prior to any conclusion.
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The majority of pituitary adenomas occur in a sporadic context, and in the absence of known genetic predisposition. Three common variants at the NEBL (rs2359536), PCDH15 (rs10763170) and CDK8 (rs17083838) loci were previously associated with sporadic pituitary adenomas in the Han Chinese population, but these findings have not yet been replicated in any other population. The aim of this case-control study was to assess if these variants are associated with susceptibility to sporadic pituitary adenomas in the Portuguese population. Genotype and allele frequencies were determined in 570 cases and in 546 controls. The CDK8 rs17083838 minor allele (A allele) was significantly associated with sporadic pituitary adenomas, under an additive (odds ratio (OR) 1.73, 95% confidence interval (CI) 1.19-2.50, p = 0.004) and dominant (OR 1.82, 95% CI 1.24-2.68, p = 0.002) inheritance model. The NEBL rs2359536 and PCDH15 rs10763170 variants were not associated with the overall risk for the disease, although a borderline significant association was observed between the PCDH15 rs10763170 minor allele (T allele) and somatotrophinomas (dominant model, OR 1.55, 95% CI 1.02-2.35, p = 0.035). These findings suggest that the CDK8 rs17083838 variant, and possibly the PCDH15 rs10763170 variant, may increase susceptibility to sporadic pituitary adenomas in the Portuguese population.
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Adenoma , Quinasa 8 Dependiente de Ciclina , Neoplasias Hipofisarias , Adenoma/genética , Estudios de Casos y Controles , Quinasa 8 Dependiente de Ciclina/genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Neoplasias Hipofisarias/genética , Polimorfismo de Nucleótido Simple , PortugalRESUMEN
Autoantibodies are produced within germinal centers (GC), in a process regulated by interactions between B, T follicular helper (Tfh), and T follicular regulatory (Tfr) cells. The GC dysregulation in human autoimmunity has been inferred from circulating cells, albeit with conflicting results due to diverse experimental approaches. We applied a consistent approach to compare circulating Tfr and Tfh subsets in patients with different autoimmune diseases. We recruited 97 participants, including 72 patients with Hashimoto's thyroiditis (HT, n = 18), rheumatoid arthritis (RA, n = 16), or systemic lupus erythematosus (SLE, n = 32), and 31 matched healthy donors (HD). We found that the frequency of circulating T follicular subsets differed across diseases. Patients with HT had an increased frequency of blood Tfh cells (p = 0.0215) and a reduced Tfr/Tfh ratio (p = 0.0338) when compared with HD. This was not observed in patients with systemic autoimmune rheumatic diseases (RA, SLE), who had a reduction in both Tfh (p = 0.0494 and p = 0.0392, respectively) and Tfr (p = 0.0003 and p = 0.0001, respectively) cells, resulting in an unchanged Tfr/Tfh ratio. Activated PD-1+ICOS+Tfh and CD4+PD-1+CXCR5-Tph cells were raised only in patients with SLE (p = 0.0022 and p = 0.0054), without association with disease activity. Our data suggest that GC dysregulation, assessed by T follicular subsets, is not uniform in human autoimmunity. Specific patterns of dysregulation may become potential biomarkers for disease and patient stratification.
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Enfermedad de Hashimoto , Lupus Eritematoso Sistémico , Humanos , Linfocitos T Colaboradores-Inductores , Receptor de Muerte Celular Programada 1 , Linfocitos T Reguladores , AutoanticuerposRESUMEN
The presence of chronic lymphocytic leukaemia (CLL) cells in the thyroid gland is most likely due to a secondary involvement by a systemic disease. The reported incidence of CLL involving the thyroid is extremely low, representing about 3-4% of all thyroid lymphoproliferative neoplasm. We report a rare case of CLL presenting initially in the thyroid gland. Systemic disease was detected as a result of thyroid investigation. An 85 years old woman, with multinodular goiter without adenophaties, was referred to our department, carrying a fine needle aspiration biopsy (FNAB) report of a private institution referring "lymphoid monomorphic proliferation" and suggesting a "Core-needle biopsy" for further investigation. She was euthyroid (TSH-0.5 uU/mL (0.4-4.0), thyroid antibodies negative, including TRab). The patient denied systemic symptoms and at physical examination there were no adenophaties or organomegalies. FNAB analysis was repeated. Although the patient denied constitutional symptoms and there were no relevant findings in physical examination, technetium 99m thyroid gamagraphy (GG) and blood count were additionally asked. FNAB analysis concluded lymphocytic tiroiditis, but thyroid GG revelled global hypocaptation and blood count showed 173.4 x 109 leukocyte/L with 94% lymphocyte. An ecoguided FNAB with flow cytometry identified thyroid infiltration by monotonous population of blasts with phenotype consistent with CLL/malignancy of mature B-cells. CLL/malignancy of mature B-cells was also detected in peripheral blood analysis, suggesting systemic disease with secondary thyroid involvement. The patient started chemotherapy with rituximab and chlorambucil with good response. Pos-treatment GG revelled "Increased levels of uptake in the middle third of the right lower lobe, with low uptake of the remaining parenchyma". In conclusion, good communication with the pathologist can improve diagnostic accuracy and dictate appropriate therapy. The use of techniques such as flow cytometry, immunoglobulin gene rearrangements, and immunohistochemistry has improved diagnostic accuracy and obviated more invasive procedures, such as core needle or open surgery biopsy. Apart from chemotherapy, immunochemotherapy with anti-CD20 and anti-CD52 monoclonal antibodies can be used in the treatment of CLL.
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Leucemia Linfocítica Crónica de Células B/complicaciones , Nódulo Tiroideo/etiología , Anciano de 80 o más Años , Biopsia , Femenino , Humanos , Cintigrafía , Enfermedades Raras , Glándula Tiroides/diagnóstico por imagen , Glándula Tiroides/patologíaRESUMEN
The presence of chronic lymphocytic leukaemia (CLL) cells in the thyroid gland is most likely due to a secondary involvement by a systemic disease. The reported incidence of CLL involving the thyroid is extremely low, representing about 3–4% of all thyroid lymphoproliferative neoplasm. We report a rare case of CLL presenting initially in the thyroid gland. Systemic disease was detected as a result of thyroid investigation. An 85 years old woman, with multinodular goiter without adenophaties, was referred to our department, carrying a fine needle aspiration biopsy (FNAB) report of a private institution referring “lymphoid monomorphic proliferation” and suggesting a “Core-needle biopsy” for further investigation. She was euthyroid (TSH–0.5 uU/mL (0.4-4.0), thyroid antibodies negative, including TRab). The patient denied systemic symptoms and at physical examination there were no adenophaties or organomegalies. FNAB analysis was repeated. Although the patient denied constitutional symptoms and there were no relevant findings in physical examination, technetium 99m thyroid gamagraphy (GG) and blood count were additionally asked. FNAB analysis concluded lymphocytic tiroiditis, but thyroid GG revelled global hypocaptation and blood count showed 173.4 x 109 leukocyte/L with 94% lymphocyte. An ecoguided FNAB with flow cytometry identified thyroid infiltration by monotonous population of blasts with phenotype consistent with CLL/malignancy of mature B-cells. CLL/malignancy of mature B-cells was also detected in peripheral blood analysis, suggesting systemic disease with secondary thyroid involvement. The patient started chemotherapy with rituximab and chlorambucil with good response. Pos-treatment GG revelled “Increased levels of uptake in the middle third of the right lower lobe, with low uptake of the remaining parenchyma”. In conclusion, good communication with the pathologist can improve diagnostic accuracy and dictate appropriate therapy. The use of techniques such as flow cytometry, immunoglobulin gene rearrangements, and immunohistochemistry has improved diagnostic accuracy and obviated more invasive procedures, such as core needle or open surgery biopsy. Apart from chemotherapy, immunochemotherapy with anti-CD20 and anti-CD52 monoclonal antibodies can be used in the treatment of CLL.
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Anciano de 80 o más Años , Femenino , Humanos , Leucemia Linfocítica Crónica de Células B/complicaciones , Nódulo Tiroideo/etiología , Biopsia , Enfermedades Raras , Glándula Tiroides/patología , Glándula TiroidesRESUMEN
Reduced sensitivity to thyroid hormones (RSTH) is a rare disease that affects about 3,000 individuals, belonging to about 1,000 families. It results from reduced intracellular action of thyroid hormones (TH) genetically determined and manifests as persistent hyperthyroxinemia with non-suppressed thyroid-stimulating hormone (TSH). We describe a 67-years old, Caucasian woman, with past history of subtotal thyroidectomy due to diffuse goiter, who presents with a recurrence of goiter. Although she is clinically euthyroid, laboratory evaluation shows persistent hyperthyroxinemia with non-suppressed TSH. Response to thyrotropin releasing hormone (TRH) test was normal and TSH concentrations were not suppressed during oral administration of suprafisiologic doses of levothyroxine (L-T4). Peripheral blood DNA was extracted from the patient and a mutation was found localized in cluster one, at codon 346 of the ligand binding domain of the THRB gene. The patient’s son underwent thyroid function testing (TFT) and genetic study, both negative, suggesting a sporadic mutation. RSTH should be considered in all hyperthyroxinemic patients who are clinically euthyroid. Mutations interfering with three major steps required for TH action on target tissues have been, so far, identified (TR-β, TR-α, MCT8, SPB2). Each mutation is associated with a distinctive syndrome. Goal of management is to maintain a normal serum TSH level and a eumetabolic state and offer appropriate genetic counselling and prenatal diagnosis. Inappropriate treatment of eumetabolic patients results in hypothyroidism and need for TH replacement.
A sensibilidade reduzida aos hormônios tiroidianos (RSTH) é uma doença rara que afeta cerca de 3.000 indivíduos em 1.000 famílias. Ela resulta de uma ação intracelular reduzida de hormônios tiroidianos (TH), é geneticamente determinada e se manifesta como hipertiroxinemia persistente com hormônio tireoestimulante (TSH) não suprimido. Descrevemos o caso de uma mulher caucasiana de 67 anos de idade com histórico de tiroidectomia subtotal por bócio difuso e que apresentou recorrência do bócio. Embora ela fosse clinicamente eutiroide, a avaliação laboratorial mostrou hipertiroxinemia persistente com TSH não suprimido. A resposta ao hormônio liberador da tireotrofina (TRH) foi normal e as concentrações de TSH não foram suprimidas durante a administração oral de doses suprafisiológicas de levotiroxina (L-T4). Foi extraído DNA de sangue periférico da paciente e encontrada uma mutação no cluster um do códon 346 do domínio de ligação do ligante do gene THRB. O filho da paciente foi submetido a um teste de função da tiroide e a um estudo genético, ambos negativos, o que sugeriu uma mutação esporádica. O RSTH deve ser considerado em todos os pacientes hipertiroxinêmicos que sejam clinicamente eutiroides. Foram identificadas, até hoje, mutações que interferem com os três passos principais necessários para a ação do TH sobre os tecidos-alvo (TR-b, TR-α, MCT8, SPB2). Cada mutação está associada com uma síndrome distinta. O objetivo do manejo é manter o nível sérico normal de TSH e um estado eumetabólico, além de se oferecer aconselhamento genético adequado e diagnóstico pré-natal. O tratamento inadequado de pacientes eumetabólicos leva ao hipotireoidismo e requer reposição de TH.
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Anciano , Femenino , Humanos , Mutación , Enfermedades Raras/genética , Síndrome de Resistencia a Hormonas Tiroideas/genética , ADN , Exones , Genes erbA , Bocio/genética , Hipertiroxinemia/sangre , Reacción en Cadena de la Polimerasa , Recurrencia , Receptores de Hormona Liberadora de Tirotropina/sangre , Receptores de Hormona Liberadora de Tirotropina/efectos de los fármacos , Pruebas de Función de la Tiroides , Tirotropina/sangre , Tirotropina/efectos de los fármacos , Tiroxina/farmacologíaRESUMEN
Hypoglycemia in apparently healthy adults is a rare finding in clinical practice requiring a thorough investigation of the cause. During the investigation, identification of hypoglycemia associated with inappropriately high levels of insulin and C-peptide should prompt the exclusion of rare causes of hypoglycemia, including pancreatic islet-cells disease and autoimmune hypoglycemia. In this paper, we describe two cases of hypoglycemia associated with endogenous hyperinsulinism, whose causes are uncommon in clinical practice, and review important aspects of the diagnosis and treatment of hyperinsulinemic hypoglycemia.
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Hiperinsulinismo/etiología , Hipoglucemia/etiología , Insulinoma/complicaciones , Mieloma Múltiple/complicaciones , Neoplasias Pancreáticas/complicaciones , Péptido C/sangre , Femenino , Humanos , Insulina/sangre , Masculino , Persona de Mediana Edad , Páncreas/diagnóstico por imagen , Páncreas/patología , Proinsulina/sangre , UltrasonografíaRESUMEN
A hipoglicemia em um adulto aparentemente saudável é um achado raro na prática clínica que exige uma investigação exaustiva da causa. A identificação de glicemia plasmática diminuída associada a concentrações plasmáticas de insulina e peptídeo-C não suprimidos deverá levar à exclusão de causas raras de hipoglicemia, entre elas, doença das células betapancreáticas e hipoglicemia autoimune. Neste artigo, descrevemos dois casos de hipoglicemia associada a hiperinsulinismo endógeno, cujas causas são pouco habituais na prática clínica. A propósito desses casos clínicos revemos aspectos importantes de diagnósticos e tratamento da hipoglicemia no contexto de hiperinsulinismo endógeno.
Hypoglycemia in apparently healthy adults is a rare finding in clinical practice requiring a thorough investigation of the cause. During the investigation, identification of hypoglycemia associated with inappropriately high levels of insulin and C-peptide should prompt the exclusion of rare causes of hypoglycemia, including pancreatic islet-cells disease and autoimmune hypoglycemia. In this paper, we describe two cases of hypoglycemia associated with endogenous hyperinsulinism, whose causes are uncommon in clinical practice, and review important aspects of the diagnosis and treatment of hyperinsulinemic hypoglycemia.
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Femenino , Humanos , Masculino , Persona de Mediana Edad , Hiperinsulinismo/etiología , Hipoglucemia/etiología , Insulinoma/complicaciones , Mieloma Múltiple/complicaciones , Neoplasias Pancreáticas/complicaciones , Péptido C/sangre , Insulina/sangre , Páncreas/patología , Páncreas , Proinsulina/sangreRESUMEN
Reduced sensitivity to thyroid hormones (RSTH) is a rare disease that affects about 3,000 individuals, belonging to about 1,000 families. It results from reduced intracellular action of thyroid hormones (TH) genetically determined and manifests as persistent hyperthyroxinemia with non-suppressed thyroid-stimulating hormone (TSH). We describe a 67-years old, Caucasian woman, with past history of subtotal thyroidectomy due to diffuse goiter, who presents with a recurrence of goiter. Although she is clinically euthyroid, laboratory evaluation shows persistent hyperthyroxinemia with non-suppressed TSH. Response to thyrotropin releasing hormone (TRH) test was normal and TSH concentrations were not suppressed during oral administration of suprafisiologic doses of levothyroxine (L-T4). Peripheral blood DNA was extracted from the patient and a mutation was found localized in cluster one, at codon 346 of the ligand binding domain of the THRB gene. The patient's son underwent thyroid function testing (TFT) and genetic study, both negative, suggesting a sporadic mutation. RSTH should be considered in all hyperthyroxinemic patients who are clinically euthyroid. Mutations interfering with three major steps required for TH action on target tissues have been, so far, identified (TR-ß, TR-α, MCT8, SPB2). Each mutation is associated with a distinctive syndrome. Goal of management is to maintain a normal serum TSH level and a eumetabolic state and offer appropriate genetic counselling and prenatal diagnosis. Inappropriate treatment of eumetabolic patients results in hypothyroidism and need for TH replacement.
Asunto(s)
Mutación , Enfermedades Raras/genética , Síndrome de Resistencia a Hormonas Tiroideas/genética , Anciano , ADN/análisis , Exones , Femenino , Genes erbA , Bocio/genética , Humanos , Hipertiroxinemia/sangre , Reacción en Cadena de la Polimerasa , Receptores de Hormona Liberadora de Tirotropina/sangre , Receptores de Hormona Liberadora de Tirotropina/efectos de los fármacos , Recurrencia , Pruebas de Función de la Tiroides , Tirotropina/sangre , Tirotropina/efectos de los fármacos , Tiroxina/farmacologíaRESUMEN
BACKGROUND: Intragastric balloon is a temporary treatment for weight loss with proven safety and efficacy when associated with lifestyle intervention. It is indicated in the super--obese who are candidates for bariatric surgery to lose weight and to reduce their high surgical risk. Our aim was to retrospectively evaluate the results of the patients in whom this device was inserted during a three-year period from the beginning of this practice in the Hospital de Santa Maria. METHODS: Data from the medical records in what concerns bioanthropometric characteristics in the beginning and following balloon removal were reviewed and submitted to descriptive analysis. RESULTS: Fifty-seven patients underwent intragastric balloon placement, of whom 46 female and 11 male, with median age 44,2 ± 11,77 years. Median body mass index (BMI) 51,6 ± 9,45 kg/m(2). Five patients were lost to follow-up. The balloon was inserted for a median time of 206 ± 62,62 days, during which there was a median weight loss of 17,2 ± 9,46 kg, a reduction of 6,7 ± 3,73 kg/m(2) in BMI and a mean excessive weight loss of 26,7 ± 16,99%. There were 5 patients in whom serious complications occurred, one of which died. One half of the patients went on to bariatric surgery. The median time between balloon removal and surgery was 241,6 ± 243,66 days in which there was a median weight variation of + 3,5 ± 11,69 kg. The remaining patients: 15 dropped out further treatment, 5 patients are under medical therapy and have no invasive procedure scheduled, 4 patients are to be submitted to another balloon insertion and 2 patients were submitted to the insertion of a second balloon during the time this article refers to. CONCLUSIONS: Our findings are similar to some previously described. Intragastric balloon is a temporary and efficacious option in the treatment of morbid obesity. However, it is very important to strictly select the patients and to have a good coordination with the Surgical department so that results can be optimized.