Recomendaciones para el uso correcto de densitometría ósea en la práctica clínica. Consenso de la Sociedad Chilena de Endocrinología y Diabetes / Guidelines of the Chilean Endocrinology Society for the correct clinical use of bone densitometry

Osteoporosis is a silent and frequent disease, which increases fracture risk. Approximately half of women and one of five men over 50 years old will suffer an osteoporotic fracture throughout their lives. Dual-energy x-ray absorptiometry (DXA) allows a real bone mineral density (BMD) measurement in different parts of the skeleton and is considered the "gold standard" for quantifying osteoporosis with high accuracy and precision. The Board of the Chilean Society of Endocrinology and Diabetes (SOCHED) required from the Bone Disease Study Group to develop a consensus about the "Correct use of bone densitometry in clinical practice in Chilean population". Therefore, we elaborated 25 questions which addressed key aspects about the indications for a DXA scan, and the details of how to perform and report this test. Since some of the evidence obtained was of low quality or inconclusive, we decided to create a multidisciplinary group of national experts in osteoporosis to develop a consensus in this subject. The group consisted of 22 physicians including endocrinologists, gynecologists, geriatricians, radiologists, rheumatologists and nuclear medicine specialists. Using the Delphi methodology to analyze previously agreed questions, we elaborated statements that were evaluated by the experts who expressed their degree of agreement. The final report of this consensus was approved by the SOCHED board.

Hallazgos anatomopatológicos definitivos en pacientes tiroidectomizados con diagnóstico preoperatorio de neoplasia folicular / Definitive anatomopathological findings in thyroidectomized patients with preoperative diagnosis of follicular neoplasm

Background: The finding of follicular neoplasm, using a FNAP, is an indication for partial or total thyroidectomy, to obtain the definitive malignant or benign histology. Frequently, it is possible to identify significant additional histological diagnosis. Aim: To obtain the definitive histological findings in patients with follicular neoplasm by FNAP. Patients and Method: Transversal analysis of 133 patients that underwent to total thyroidectomy between 2003 and 2009, that filled de requirements for adequate histological assessment. Results: In 33.1 percent of the treated patients the final diagnosis was indeed a follicular neoplasm (adenoma in 26.3 percent and cancer in 6.8 percent). In the 51.9 percent the finding was follicular colloidal hyperplasia and other thyroid cancer in 8.3 percent. The total malignant prevalence in the whole gland was 29.3 percent. Conclusions: The thyroidec-tomy is the treatment of choice and the final diagnostic procedure for these patients. The histological findings of cancer different from follicular not only in the punctioned nodule are a secondary and an additional argument for reinforcing the surgical indication.

Introducción: El hallazgo de una neoplasia folicular por PAAF, obliga a realizar una tiroidectomía parcial o total, para definir la naturaleza maligna o benigna definitiva de la lesión tiroidea. Junto a este diagnóstico preoperatorio se identifican finalmente con alta frecuencia lesiones histológicas adicionales. Objetivo: Conocer y describir los hallazgos anatomopatológicos definitivos que se encuentran en tiroidectomías por neoplasias foliculares diagnosticadas por PAAF. Materiales y Métodos: Revisión transversal de las biopsias definitivas de 133 pacientes sometidos a tiroidectomía total entre 2003 y 2009, que cumplieron los requisitos establecidos para evaluar la histología definitiva del nódulo puncionado y de la glándula tiroides completa. Resultados: En el 33,1 por ciento de los pacientes el diagnóstico definitivo del nódulo puncionado fue efectivamente una neoplasia folicular (adenoma en el 26,3 por ciento y cáncer en el 6,8 por ciento). El 51,9 por ciento correspondió a hiperplasia folicular y el 8,3 por ciento otro cáncer. La prevalencia de malignidad final en la glándula completa fue de un 29,3 por ciento. Conclusiones: Siendo la indicación de tiroidectomía en estos pacientes un tratamiento y procedimiento diagnóstico aceptado y necesario, se concluye que la alta prevalencia de lesiones malignas (29,3 por ciento) tanto en el nódulo puncionado como, adicionalmente, en el resto de la glándula, reforzaría la necesidad de este tratamiento quirúrgico.

Hiperparatiroidismo primario de origen multiglandular con glándula paratiroides intratiroídea hiperfuncionante / Multiglandular primary hyperparathyroidism with a hyperfunctional intrathyroid gland: case report

We report a 56 years old female, admitted to the hospital for the study of general weakness, constipation, a recent radial fracture, hypercalcemia of 18 mg/dl, hypophosphatemia of 1.2 meq/dl and a serum parathormone (PTH) of 995 pg/ml. A thyroid ultrasound disclosed a nodule of 6 cm diameter. Following emergency management and normalization of the hypercalcemia, that patient was subjected to a total thyroidectomy and parathyroidectomy. The pathological study of the surgical piece showed a multiglandular hyperplasia of the parathyroid glands. One of these was located inside the left thyroid lobe.

Se presenta el caso de una paciente de 56 años que ingresó al hospital por una historia caracterizada por decaimiento, constipación, fractura reciente de radio, hipercalcemia de 18 mg/dl, hipofosfemia de 1,2 meq/ dl y elevación de paratohormona de 995 pg/ml. Además, presentaba un nódulo tiroídeo de 6 cm. Posterior al tratamiento médico de la hipercalcemia, se realizó el tratamiento quirúrgico con el diagnóstico definitivo de hiperplasia paratiroídea multiglandular con una de ellas en ubicación intratiroídea.

Utilidad e interpretación de la biopsia tiroidea por punción con aguja fina / Use and interpretation of fine needle aspiration biopsy of thyroid nodules

Fine needle thyroid biopsy is a safe and cost effective diagnostic method for thyroid nodules. Its use has reduced the number of unnecessary thyroidectomies, performed to excise thyroid nodules. Since it is an invasive diagnostic method, its indications should be specified according to ultrasonographic criteria. The massive use of fine needle biopsies increase the number of unsatisfactory samples and indeterminate results. Although it is possible to obtain biopsies from exceedingly small nodules, the clinical significance of these small carcinomas is not yet defined. Ultrasonography, mmunohistochemical markers such as citokeratin, 19, HBME-1, galectin 3) and genetic determinants such as oncogene RET/PTC, 1, 2, 3, RAS oncogene and BRAF V600E mutation along with clinical follow up, will readily identify those patients that are benefited with fine needle biopsies.

Hiperplasia suprarrenal no clásica, características clínicas y genéticas / Clinical and genetic features of non classical adrenal hyperplasia

Background: The non classical form of congenital adrenal hyperplasia (NCAH) is increasingly recognized inhyperandrogenic patients, with variable phenotypic expression. Aim: To determine the clinical, hormonal, andgenetic characteristics of a group of patients with NCAH. Patients and methods: The medical records of 57NCAH patients were retrospectively reviewed. The diagnosis was established by basal or post-ACTH-stimulation 17-hydroxyprogesterone (17-OHP) levels >7 ng/mL and > 15 ng/mL, respectively. Patients with post-ACTH 17-OHP levels between 10-15 ng/mL, and with one identified allele o without genetic tests, were consideredas heterozygous. Genotyping for 10 mutations was performed by PCR. Results: The average age of diagnosis was 12.4 +/- 0.9 years. Six patients were male. Pubarche and hirsutism were the clinical signs more frequently described in patients below 10 years of age (25/29) and over 10 years of age (11/24), respectively. A basal 17-OHP > 7 ng/mL was observed in 36 patients; the post ACTH 17-OHP was between 10-15 and > 15 ng/mL in 5 and 17 patients, respectively. Genotype analyses were performed in 38 patients. V281L was carried on approximately 68.4 percent of all alleles and 29 percent of patients carried severe mutations. Only one of five possible carrier patients, was diagnosed as NCAH after the genetic test (V281L/ In2splice). Conclusions: Males with NCAH were apparently sub-diagnosed. Pubarche and hirsutism were the more frequently reported signs. The genetic test is complementary in the diagnosis of NCAH. One third of the patients carried a classic mutation and could have an increased risk to have siblings with Classical CAH.

Comparación de distintos métodos para evaluar la función androgénica en el adulto mayor / Assessment of androgenic decline in the elderly

Background:The gold standard to assess androgenic status is the measurement of free testosterone by equilibrium dialysis. However, the estimation of free testosterone using formulas based on the law of mass action can be an adequate standard. Aim: To assess androgenic decline in the elderly by different methods. Material and methods: Free testosterone by radioimmunoassay, total testosterone and steroid binding globulin (SHBG) by automated chemiluminiscence system and estradiol by automated electrochemiluminiscence system were measured in 30 male aged 64±5 years (range 60-70), and 25 males aged between 20 and 30 years, as control group; devoid of diseases or drugs that could cause hypogonadism. Free androgen index, free testosterone, biavailable testosterone, and free estradiol were calculated using a formula based on the law of mass action. Results: Fifty seven percent of elderly subjects had hypogonadism, according to calculated free testosterone values. Their total testosterone was on average, 152 nd/dl lower than in young adults, figure that represents a 3.8 ng/dl decline per year. According to total testosterone values, 27 percent of elderly males had gonadal incompetence. The correlations between calculated free testosterone and total testosterone was 0,95 and between calculated free testosterone and measured free testosterone was 0,67. The methods employed overestimated (76.7 percent of hypogonadism when using the free androgen index) or underestimated (27 and 3 percent of hypogonadism, considering total or free testosterone, respectively) the ondrogen decline of the elderly. Among the elderly, 16 or 30 percent of subjects had an absolute hypoestrogenism, based on estradiol or calculated free estradiol values, respectively. On average there was a 20 and 30 percent reduction of estradiol and calculated free estradiol values in the elderly. Conclusions: Calculated free or bioavailable testosterone values should be used to assess androgen decline in elderly men.

Características de presentación del microcarcinoma papilar del tiroides. Experiencia retrospectiva de los últimos 12 años / Pathological characteristics of thyroid microcarcinoma. A review of 402 biopsies

Background: Thyroid microcarcinoma is a tumor of 10 mm or less, that should have a low risk of mortality. However, a subgroup of these carcinomas is as aggressive as bigger tumors. Aim: To describe the pathological presentation of these tumors, and compare them with larger tumors. Material and methods: All pathological samples of thyroid carcinoma that were obtained between 1992 and 2003, were studied. In all biopsies, the pathological type, tumor size, the focal or multifocal character, the presence of lymph node involvement and the presence of lymphocytic thyroiditis or thyroid hyperplasia, were recorded. Results: One hundred eighteen microcarcinomas and 284 larger tumors were studied. The mean age of patients with microcarcinoma and larger tumors was 42.7±14 and 49.3±16 years respectively (p <0,001) and 83% were female, without gender differences between tumor types. Mean size of microcarcinomas was 8.6 mm and 116 (98%) were papillary carcinomas. Of these, 109 (94%) were well differentiated and seven (6%) were moderately differentiated. Thirty six (31%) were multifocal and in 10 (8,6%), there was lymph node involvement. The mean size of larger tumors was 23.8 mm and 241 (85%) were papillary carcinomas. Of these, 200 (83%) were well differentiated, and 41 (17%) were moderately differentiated. Eighty five (35%) were multifocal and in 44 (18%) there was lymph node involvement. The prevalence of thyroiditis and hyperplasia was significantly higher among microcarcinomas than in larger tumors (15 and 2.5%, respectively, p <0.001, for the former; 32.4 and 1.7%, respectively, p <0.001, for the latter). Conclusions: In this series, one third of microcarcinomas were multifocal and 10% had lymph node involvement. Therefore, the aggressiveness of these tumors is higher than what is reported in the literature and they should be treated with total thyroidectomy.

Consenso de diagnóstico y manejo de los nódulos tiroideos no palpables / Consensus report on the diagnosis and management of non palpable thyroid nodules

With the availability of new diagnostic techniques, numerous alterations are found, whose real importance for health is uncertain. The term <>, is used for non apparent tumors found in diagnostic procedures. In Endocrinology, the incidental finding of thyroid nodules is common. The occurrence of those incidental nodules requires a review of the <> statements for the management of palpable nodules. The most important issue is to rule out the presence of cancer. The Chilean Society of Endocrinology, Metabolism and Nutrition appointed a group of experts to generate a consensus on tbe management of non palpable nodules. These experts reviewed international literature, and the local experience, analyzed the value of thyroid ultrasound examination and the efficiency of fine needle aspiration biopsy. This consensus is a clinical guide for the management of non palpable thyroid nodules, considering that a unique and optimal approach is still lacking.

Efecto de dosis bajas de calcitonina sobre la remodelación ósea en mujeres postmenopáusicas con alto recambio / Effects of low calcitonin doses on bone remodeling in postmenopausal women with high bone turnover rate

Background: Calcitonin is specially indicated for the treatment of osteoporosis in women that cannot receive estrogen replacement therapy or that have a high bone turnover rate. Aim: To study the effects of low intranasal calcitonin doses on bone remodeling in postmenopausal women with a high bone turnover. Patients and methods: Forty one healthy women aged 56 ñ 6 years old, with a mean lapse after menopause of 7.6 ñ 6.5 years and with a high bone turnover rate, evidenced by an urinary hydroxyproline (mg/dl)/creatinine (g/dl) ratio of 52.4 ñ 7.2, were studied. They were randomly assigned to receive 100 or 50 U/calcitonin thrice a week during 3 months or to a control group that received placebo. All received 500 mg/day calcium carbonate. Urinary hydroxyproline/creatinine ratio was measured a 0, 15, 30, 60 and 90 days. Plasma bone fraction of alkanine phosphatases was measured at 0, 30 and 90 days. Results: Initial urinary hydroxyproline/creatinine ratio and plasma bone fraction of alkanine phosphatases were similar in all study groups and there was no change in these parameters during the study period. Conclusions: Intranasal calcitonin in doses of 100 U thrice a week or less, does not modify accelerated bone turnover in postmenopausal women

Síndrome de Cushing por secreción ectópica de ACTH: análisis del mecanismo fisiopatológico de la hipokalemia: comunicación de dos casos / Cushing syndrome with severe hipokalemia caused by ectopic ACTH secretion: report of two cases

We report a 42 years old male and a 66 years old female with a Cushing syndrome caused by ectopic ACTH secretion secondary to a carcinoid tumor. These patients had both severe hypokalemia, resistant to medical treatment and that subsided with bilateral adrenalectomy and supplementation with dexametasone. Cushing syndrome caused by ectopic ACTH secretion is characterized by a severe and rapidly evolving hypercortisolism. Hypokalemia is present in 90 percent of cases and is probably caused by a defect in 11 ß hydroxysteroid dehydrogenase, that limits the binding of cortisol to aldosterone receptor, metabolizing it to cortisone. Therefore, this alteration will increase the mineralocorticoid action of cortisol

Déficit de hormona de crecimiento en pacientes con insuficiencia cardíaca crónica / Growth hormone deficiency in patients with chronic cardiac failure

Nine patients, aged 49 to 76 years old, 7 male, were studied. Seven had an idiopathic dilated cardiomyopathy and 2 a coronary heart disease. All had a stable cardiac failure, in functional capacity II or III and were receiving digoxin, furosemide and potassium supplements. Thyroid hormone levels, basal and exercise growth hormone and IGF-1 levels were measured and compared with reference values for American populations. Left ventricular ejection fraction was measured with an isotopic technique and nutritional status using anthropometry and indirect calorimetry. Anthropometric measures, basal and postprandial oxygen consumption were within normal limits. Thyroid hormone levels were normal. During maximal exercise, growth hormone levels were 2.56ñ4.1 ng/ml and IGF-1 levels were 0.56ñ0.61 mU/ml. These values were significantly lower than expected for age and sex. These patients with chronic cardiac failure have lower than normal growth hormone and IGF-1 levels

Modificación de la reabsorción ósea con terapia hormonal de reemplazo en la postmenopausia / Modification of bone resorption with replacement hormonal therapy in postmenopause

Eighty three postmenopausal women without replacement hormonal therapy, 54 postmenopausal women receiving replacement hormonal therapy and 16 premenopausal women (considered as control group) were studied. Hydroxyproline was measured in an early morning urine sample, after one day of diet without meat or gelatin. Urinary hydroxyproline in premenopausal women was 33.7ñ7.9 mg/g creatinine. The figure for postmenopausal women with hormonal replacement therapy was 33.5ñ7.9 mg/g creatinine. Postmenopausal women without replacement therapy had an urinary hydroxyproline of 47.4ñ8.5 mg/g creatinine, significantly higher than that of premenopausal and supplemented women. In 21 postmenopausal women, hydroxyproline was measured before and after 3 months of replacement therapy; values decreased 35.5ñ11 percent in this period and there was a direct correlation between initial values and the degree of reduction (r=0.69, p<0.001). Postmenopausal women receiving hormone replacement therapy have a urinary hydroxyproline excretion similar to that of premenopausal women

Rendimiento comparativo entre biopsia y citología obtenidas por aspiración con aguja fina en nódulos sólidos del tiroides / Comparative useful between biopsy and cytology obtained by fine needle aspiration in thyroid nodules

The correct management of thyroid nodules requires an accurate histological diagnosis to doscard carcinoma. One hundred and forty three thyroid nodules were punctured with a 21 G needle under continous aspiration obtaining a sample for cytological and histological diagnosis. Fifty patients were subjected to a thyroidectomy. The age of studied patients ranged from 12 to 78 years old and 94 percent were female. Mean nodule diameter was 2.7ñ1.4 cm. Two percent of procedures were complicated with local hematomas, that subsided spontaneously. A diagnosis of cancer was reached in 16 percent of all patients and 46 percent of operated patients. Cytology had a 50 percent sensitivity, 87.5 percent specificity, a 89.4 percent positive predictive value and a 87.5 percent negative predictive value. The figures for fine needle aspiration biopsy were 82.6, 100, 100 and 87 percent respectively. Fine needle aspiration biopsy has a better diagnostic accuracy than cytology and is a simple and safe procedure

Neoplasia endocrina múltiple tipo 2A: presentación de un caso de evolución inhabitualmente agresiva / Multiple endocrine neoplasia type 2A: report of a case with an aggressive outcome

We report a 28 years old woman who consulted for diarrhea of 2 years and thyroid nodule. A medullary thyroid carcinoma was diagnosed and a thyroidectomy performed. There was a local relapse 2 months later and distant metastases were found 5 months later. A MIBG-1131 scontigraphic image of the adrenal lead to the suspicion of a bilateral pheochromocytoma. The surgical resection of the adrenals confirmed the diagnosis. There was no response to chemotherapy and the patient continued with severe hypercalcemia, repeated infections, persistent diarrhea and cachexia, dying one year after the aggressive presentation of a multiple endocrine neoplasia type 2A

Macroprolactinoma en adolescentes: respuesta al tratamiento con bromocriptina / Macroprolactinoma in adolescents: response to the bromocriptine treatment

Los macroprolactinomas son raros en niños y adolescentes. En adultos el tratamiento con bromocriptina (BC) ha sido exitoso. Existe escasa información en relación a su uso en edad pediátrica. Se describen tres casos de adolescentes con macroprolactinomas, tratados con bromocriptina, dos mujeres de 14 y 17,6 años con amenorrea, galactorrea, cefalea y un varón de 18 años con retardo del crecimiento y el desarrollo puberal, hipotiroidismo y déficit de hormona de crecimiento. Todos tenían hiperprolactinemia (>150 ng/ml) y tumor selar mayor de 10 mm. Después de tratamiento con bromocriptina se consiguió en dos de ellos prolactinemia normal y desaparición completa del tumor. Una de las niñas respondió sólo parcialmente al tratamiento. La bromocriptina es pues un tratamiento efectivo, aún en pacientes con deterioro del campo visual e hipopituitarismo y como en adultos, debería ser considerada el tratamiento de primera elección en adolescentes con macroprolactinomas

Importancia del déficit de inhibidores de la cristalización en la etiopatogenia de la urolitiasis / Importance of crystallization inhibitors deficit in the etiopathogenic of urolithiasis

Background: five percent of consultations at the emergency room of Catholic University Hospital are due to nephrolithiasis. The causes of this high frequency remain unknown. Aim: to know the main metabolic and anatomic factors involved in the genesis of nephrolithiasis. Patients and methods: 41 patients (31 male) were studied presenting with a renal colic were studied as soon as the acute episode subsided and without diet modifications. Fasting blood calcium and creatinine and 24 h urine calcium, uric acid, citrate, magnesium and pH were measured and an intravenous pyelogram was performed. 21 subjects without a history of nephrolithiasis were used as controls. Results: Patients with nephrolithiasis did not differ from controls in urinary calcium (159 ñ 67 and 172 ñ 67 mg/24 h respectively), uricosuria (417 ñ 171 and 431 ñ 121 mg/24 h respectively) or urinary magnesium (55 ñ 19 and 62 ñ 21 mg/24 h respectively, whereas urinary citrate was lower (219 ñ 172 vs 319 ñ 179 mg/24 h in controls p <0.05). All patients had a normal renal functions, urinary acidification and intravenous pyelogram. Seven percent of patients with nephrolithiasis had hypercalciuria, 2.4 percent had hyperuricosuria, 68.3 percent had a low urinary citrate and 44.4 percent had low urinary magnesium. Conclusions: in this sample, there is a strong association of nephrolithiasis with low levels of crystallization inhibitors in special with urinary citrate, a crystallization inhibitor

Síndrome de falla orgánica múltiple en el curso de la insuficiencia hepática fulminante / Multiple systems organ failures in fulminant hepatic failure

Background: in fulminant hepatic failure, different organs systems become involved and a multiple systems organic failure may ensue. Aim: to perform a retrospective analysis of patients with fulminant hepatic failure admitted to UC Hospital Intensive Care Unit. Patients and methods: the charts of 14 patients (8 male) were analyzed. Multiple systems organic failure was defined as the presence of 2 or more organic dysfunctions. The evolution and mortality of these patients was analyzed. Results: patients` ages ranged from 30 to 74 years. The etiology of hepatic failure was B hepatitis in 4, non A non B hepatitis in 5, acute fatty liver of pregnancy in 3 and use of halothane and HIN in 2. ICU stay ranged from 1 to 44 days and 2 patients survived (one with drug induced liver failure and 1 with acute fatty liver of pregnancy). Mean prothrombin time was 19 ñ 9.5 per cent , total bilirrubin as 24 ñ 8.9 mg/dl and 12 patients reached grade IV encephalopathy. Mean admission APACHE II score was 21.5 ñ 6. Twelve patients developed multiple systems organic failure, that appeared 1.5 days or was already present at ICU admission; it lasted a mean of 2.5 days and all these 12 patients died. Neurologic involvement occured in 13 patients, renal in 10, cardiovascular in 9, respiratory in 5 and hematological involvement in 1. Conclusions: multiple systems organic failure is frequent in fulminant hepatic failure and is associated with a high mortality