Tratamiento del hipoparatiroidismo postquirúrgico permanente, servicio endocrinología, Centro Médico Nacional 20 de noviembre, México 2020 / Permanent post-surgical hypoparathyroidism treatment response, outpatient consultation Endocrinology Service, ISSSTE, 2020

El hipoparatiroidismo postquirúrgico se caracteriza por hipocalcemia, hiperfosfatemia, e hipercalciuria, secundarios a concentraciones bajas de la hormona paratiroidea. La prevalencia en Estados Unidos es 23-37 casos/100.000 años-persona. Tras la cirugía de cuello ocurre como complicación en 78% de los casos; 75% resuelve espontáneamente en los primeros 6 meses y en el 25% restante es permanente. El tratamiento requiere administrar calcio oral y análogos de vitamina D (calcitriol y alfacalcidol) de forma crónica; en casos complicados se puede emplear calcio intravenoso en el postquirúrgico inmediato y mediato; algunos pacientes no responden a la terapia estándar. Objetivo: describir las características clínicas y la respuesta al tratamiento médico en pacientes con hipoparatiroidismo postquirúrgico permanente. Material y métodos: estudio descriptivo, transversal, con componente analítico mediante revisión de expedientes clínicos de pacientes que asistieron a la consulta externa del Servicio de Endocrinología del Centro Médico Nacional 20 de Noviembre; universo 88 expedientes, muestra por conveniencia 55 expedientes. Resultados: 35(63.6%) pacientes alcanzaron control óptimo de tratamiento a dosis de calcio elemental de 5.7-9.79g/24h (p= 0.0001 chi cuadrado), mostrando calcio sérico promedio 8.36 0.55 mg/dl y calcitriol con mediana de 0.5µg/24 h. 15(27.2%) pacientes presentaron efectos secundarios al uso de calcio oral, 3 de ellos requirieron manejo con Hormona Paratiroidea Recombinante Humana para alcanzar control óptimo. Conclusión: el calcio elemental por vía oral continúa siendo la piedra angular en el tratamiento del hipoparatiroidismo post quirúrgico permanente, con pocos efectos adversos. Se recomiendan más estudios aleatorizados para identificar las características de los pacientes candidatos al manejo con Hormona Paratiroidea Recombinante Humana...(AU)

Incidencia de hipocalcemia e hipoparatiroidismo en cirugías de cuello / Hypocalcaemia and hypoparathyroidism' incidence in neck surgeries

INTRODUCCIÓN: el hipoparatiroidismo es la alteración causada por hipofunción de las glándulas paratiroides y la causa más común es la posquirúrgica. OBJETIVO: conocer la incidencia de hipocalcemia dentro de las 72 horas del postoperatorio y de hipoparatiroidismo permanente de tiroidectomías en nueve años. SUJETOS Y MÉTODO: estudio observacional, descriptivo y retrospectivo de pacientes con tiroidectomías entre enero de 2011 y diciembre de 2019 en el Hospital de Clínicas. Se dividió la muestra por grupos etarios, se consideró hipocalcemia a valores ≤8,5 mg/dl e hipoparatiroidismo permanente cuando persistían por lo menos un año luego de cirugía. RESULTADOS: fueron 202 pacientes, 182 mujeres y 20 hombres, media de edad ± ES para mujeres 47.3±1.2 años y para hombres 55.1±3.4. El 61,5% presentó hipocalcemia en las primeras 72 horas del postoperatorio: 60,2% de mujeres y 71,4% de hombres (p=0.42). El 79% fueron hipocalcemias asintomáticas, 7,5% tuvo síntomas y 13,5% sin datos. El signo de Trousseau fue negativo 68% y positivo en 9%. Respecto a la patología hubo 107 resultados benignos, 94 malignos. CONCLUSIONES: el 90% fueron mujeres, 6 de cada 10 presentaron hipocalcemia en las primeras 72hs, en la gran mayoría fueron asintomáticas y tuvieron signo de Trousseau negativo. No hubo correlación entre hipocalcemia con edad, sexo, duración o tiempo de la cirugía, ni resultado de patología. La incidencia de hipoparatiroidismo transitorio fue 75,7% y permanente 7,3%. Cuando no hubo hipoparatiroidismo transitorio tampoco hubo hipoparatiroidismo permanente.

INTRODUCTION: hypoparathyroidism is the alteration caused by hypofunction of the parathyroid glands and the most common cause is post-surgery. OBJECTIVE: to know the incidence of hypocalcaemia within 72 hours of the postoperative period and of permanent hypoparathyroidism of thyroidectomies in nine years. SUBJECTS AND METHOD: observational, descriptive and retrospective study of patients with thyroidectomies between January 2011 and December 2019 at Clinical's Hospital. The sample was divided by age groups, hypocalcemia was considered at values ≤8.5 mg/dl and permanent hypoparathyroidism when they persisted for at least one year after surgery. RESULTS: there were 202 patients, 182 women and 20 men, mean age ± SE for women 47.3±1.2 years and for men 55.1±3.4. 61.5% presented hypocalcaemia in the first 72 hours after surgery: 60.2% of women and 71.4% of men (p=0.42). 79% were asymptomatic hypocalcemia, 7.5% had symptoms and 13.5% without data. Trousseau's sign was negative in 68% and positive in 9%. Regarding the pathology, there were 107 benign results, 94 malignant. CONCLUSIONS: 90% were women, 6 out of 10 presented hypocalcemia in the first 72 hours, the vast majority were asymptomatic and had a negative Trousseau sign. There was no correlation between hypocalcaemia with age, sex, duration or time of surgery, or pathology result. The incidence of transient hypoparathyroidism was 75.7% and permanent 7.3%. When there was no transient hypoparathyroidism, there was also no permanent hypoparathyroidism.

Trans Oral Endoscopic Thyroidectomy Vestibular Approach (TOETVA) in Brazil: Safety and complications during learning curve

ABSTRACT Background: The aim of this study was to address the first cases of TOETVA done in Brazil, by TOETVA-Bra study group, regarding safety and complications. Materials and Methods: Series of the first 93 TOETVAs cases in Brazil. All authors except LPK, AJG JOR and RPT received TOETVA training including cadaveric hands-on in Thailand or United States (Johns Hopkins Medicine) during 2017. After they came back to Brazil and started doing their first TOETVA cases in the cities of Rio de Janeiro, Sao Paulo and Chapecó they agreed to collaborate and gather data using an online spreadsheet. All patients were submitted to the technique described by Anuwong. Results: A total of 93 patients underwent TOETVA. Most patients (58.1%) were submitted to total thyroidectomy and 59.1% had benign disease. Two patients (2.2%) needed conversion to open surgery. Five patients (9.3%) developed transient hypoparathyroidism and there were 3 (2.0%) temporary recurrent laryngeal nerve palsy. There was one (0.7%) permanent unilateral palsy. Twenty patients had some sort of complication, 16.1% were minor and 5.4% were major. A total of 73 patients (78.5%) had an uneventful recovery. Conclusion: The technique is reproducible with a low complication rate. While further studies are needed to confirm equivalency, early efforts suggest that TOETVA is not inferior to traditional open thyroidectomy in appropriately selected patients.

Impacto do tipo de bisturi no tempo operatório e complicações agudas em tireoidectomias / Impact of scalpel type on operative time and acute complications in thyroidectomies

Resumo Introdução: A cirurgia mais comum da região cervical é a tireoidectomia. Atualmente, várias tecnologias estão disponíveis para hemostasia intraoperatória. Objetivo: Comparar o desempenho de três tecnologias (elétrica monopolar e bipolar e ultrassônica) no tempo operatório e complicações pós-operatórias. Método: Pacientes submetidos à tireoidectomia total sem tratamento prévio foram incluídos. Desenho científico usado: estudo de série prospectiva. Resultados: Foram incluídos 834 pacientes, 661 mulheres (79,3%) e 173 homens (20,7%). O diagnóstico foi de neoplasia maligna em 528 pacientes (63,3%) e de doença benigna em 306 pacientes (36,7%). O bisturi elétrico monopolar foi usado em 280 pacientes (33,6%), energia bipolar em 210 (25,2%) e ultrassônica em 344 (41,3%). O tempo operatório foi significantemente menor com bisturi ultrassônico ou bipolar quando comparado com elétrico. Em um modelo de regressão linear, sexo, diagnóstico de malignidade e tipo de energia foram significantes para duração do procedimento. Os pacientes operados com bisturi ultrassônico ou bipolar apresentaram incidência significantemente menor de hipoparatireoidismo. Conclusão: O uso do bisturi ultrassônico ou bipolar reduz de forma significante o tempo operatório e a incidência de hipoparatireoidismo transitório.

Trastornos posoperatorios del metabolismo del calcio postiroidectomía / Postoperative calcium metabolism disorders after thyroidectomy

Introducción: revisión narrativa que explica el panorama actual de la hipocalcemia y el hipoparatiroidismo como complicaciones de la tiroidectomía, su diagnóstico y tratamiento; con una descripción de las nuevas estrategias de prevención y tratamiento. Métodos: los motores de búsqueda utilizados fueron PubMed, Clinical Key, Embase, Cochrane y Lilacs, se incluyeron referencias en español e inglés, publicadas entre 2016 y 2020. Los artículos seleccionados se revisaron utilizando CONSORT, STROBE o PRISMA, según el caso. Resultados: fueron seleccionados 35 artículos que tenían relación directa con el tema, entre ellos: metanálisis, revisiones sistemáticas, estudios prospectivos y observacionales, revisiones narrativas y consensos de expertos, procedentes de los cinco continentes. La hipocalcemia y el hipotiroidismo en sus dos formas se relacionan con la afectación de la vascularización de las glándulas paratiroides o su exérecis accidental, existiendo factores predisponentes propios del paciente, derivados de la técnica quirúrgica o la característica patológica de la lesión en el tiroides. Como estrategias de prevención disponemos de herramientas ópticas para definir en el perioperatorio la disposición de las paratiroides; además existe la posibilidad de autotrasplantarlas al identificarlas en la pieza anatómica. El mejor marcador del estado metabólico del calcio es la PTHi. Conclusiones: la preservación de las paratiroides y de su irrigación es la mejor estrategia para prevenir los trastornos posoperatorios del calcio

Introduction: narrative review explaining the current picture of hypocalcemia and hypoparathyroidism as complications of thyroidectomy, describing new strategies employed for their diagnosis and treatment. Methods: searches in the PubMed, Clinical Key, Embase, Cochrane and Lilacs databases; references in Spanish and English, published between 2016 and 2020 were included. The selected articles were reviewed using CONSORT, STROBE or PRISMA, as appropriate. Results: 35 articles directly related with the topic were selected, including meta-analyses, systematic reviews, prospective and observational studies, narrative reviews and expert consensus, on all five continents. The two forms of hypocalcemia and hypoparathyroidism can result from devascularization or accidental removal of the parathyroid glands, patient-specific factors, or from the surgical technique or the pathological characteristics of the thyroid lesion. Preventive strategies include the use of optical tools for preoperative determination of parathyroid glands location; as well as the possibility of autotransplantation after confirming parathyroid tissue in the biopsy specimen. The best marker of calcium metabolism is iPTH. Conclusions: preservation of the parathyroid glands and their irrigation is the best strategy to prevent postoperative calcium disorders.

Complications of transoral endoscopic thyroidectomy vestibular approach (TOETVA) / Tireoidectomia endoscópica transoral por acesso vestibular (TOETVA) e complicações

ABSTRACT The thyroidectomy is the most frequently executed procedure in head and neck surgery. Since its first description by Kocher, the transverse cervical incision has been the main access to the thyroid site, as it provides broad exposure of the central neck compartment. Despite the meticulous suture of the incision, the development of a scar with variable dimensions is unavoidable and, hence, some patients might not agree to the approach, due to this consequence. The transoral endoscopic thyroidectomy vestibular access (TOETVA) gains importance as an alternative to the traditional surgery, since it avoids the formation of visible scars. The objective of this study is to develop a systematic review on the currently available literature to evaluate possible complications related to the TOETVA. The systematic review was based on the databases of Medline, Cochrane library, Embase and Scielo/Lilacs, resulting in the selection of six studies, which were compared in regard of the type of study duration of the study and identified complications. Our study showed that TOETVA is related to complications similar to the ones identified in the conventional approach, such as hematoma, seroma, recurrent laryngeal nerve injury, hypoparathyroidism, surgical site infection. The TOETVA was associated to a higher risk of thermic injury of the skin and mentual nerve paresthesia. Moreover, it was possible to conclude that TOETVA is a safe procedure for well selected patients, with favorable conditions and concerned about the aesthetic outcome. The risk of complications of the procedure should always be explained to those patients.

RESUMO A tireoidectomia é o procedimento cirúrgico mais frequentemente realizado na cirurgia de cabeça e pescoço. Desde sua descrição por Kocher, a incisão cervical transversa constitui o principal acesso à loja tireoideana e permite ampla exposição à região central do pescoço. Apesar do fechamento meticuloso da incisão, uma cicatriz de dimensões variáveis é inevitável, e certos pacientes podem discordar de tal abordagem. A tireoidectomia vestibular endoscópica transoral (TOETVA) ganha importância como alternativa à cirurgia tradicional, pois evita a formação de cicatrizes visíveis. O objetivo de estudo é realizar uma revisão sistemática da literatura das possíveis complicações da TOETVA. Foi realizada revisão sistemática da literatura nas bases de dados Medline, The Cochrane Library, Embase e SciElo/Lilacs, sendo selecionados seis artigos e tabulados os dados de tipo de estudo, período do estudo e complicações apresentadas. O estudo mostra que a TOETVA apresenta complicações semelhantes à técnica convencional, como hematoma, seroma, lesão de nervo laríngeo recorrente, hipoparatireoidismo, além de infecção de sítio cirúrgico, com maior risco de lesão térmica da pele e parestesia por lesão do nervo mentual. Em adição, foi possível concluir que a TOETVA é uma técnica segura para pacientes bem selecionados, com condições favoráveis e com especial preocupação com resultados estéticos, devendo sempre ser orientados sobre possíveis complicações.

Central and peripheral blood pressures and arterial stiffness increase in hypoparathyroidism

ABSTRACT Objective The aim of the present study was to evaluate whether arterial stiffness is affected in the patients with hypoparathyroidism through pulse wave analysis (PWA). Subjects and methods Sixty-three patients diagnosed with hypoparathyroidism and sixty volunteers were evaluated for the study. When 21 patients were excluded in the hypoparathyroidism group due to exclusion criteria, the research continued with 42 patients and 60 volunteers who are similar to the patients in terms of age, gender and body mass index (BMI). Fasting plasma glucose after 10 hours of fasting, creatinine, thyroid stimulating hormone (TSH), free thyroxine (fT4), albumin, calcium, phosphorus, magnesium, 25-OH vitamin D, parathormone (PTH) and urine calcium results in 24-hour urine for the patients in the hypoparathyroidism group were recorded. Evaluation of arterial stiffness was performed by Mobil-O-Graph 24h PWA device. Results Systolic blood pressure (SBP) (p = 0.01), diastolic blood pressure (DBP) (p = 0.005), mean blood pressure (p = 0.009), central SBP (p = 0.004), central DBP (p = 0.01) and pulse wave velocity (PWV) (p = 0.02) were found higher in the hypoparathyroidism group. A positive correlation was detected between phosphorus level and SBP [(p = 0.03. r = 0.327)], central SBP [(p = 0.04, r = 0.324)] and PWV [(p = 0.003, r = 0.449)]. We detected that age and serum phosphorus levels were independent predictor variables for PWV (B = 0.014, p < 0.001 and B = 0.035, p < 0.001, respectively). Conclusion We detected that hypoparathyroidism causes an increase in blood pressure and arterial stiffness. The most significant determinant factors were detected as advanced age and hyperphosphatemia. The patients diagnosed with hypoparathyroidism should be closely monitored and treatment planning should include to prevent the patients from hyperphosphatemia.

A comparison of the quantitative evaluation of in situ parathyroid gland perfusion by indocyanine green fluorescence angiography and by visual examination in thyroid surgery

ABSTRACT Objective The most vital complications of thyroidectomy are recurrent nerve damage and hypocalcaemia. We aimed to compare the tissue perfusion scores (PS) of IG fluorescence angiography (IGFA) and visual examination by the surgeon after total thyroidectomy. Subjects and methods Forty-three patients were accepted into the study. Localisation of the parathyroid gland (PG) was determined by the naked eye and scored in terms of tissue perfusion. The averages of fluorescent light intensities for each IGFA were calculated, the perfusions were scored and compared with the PS given by the surgeon. Biochemical parameters were noted. Results 37.2% of patients had autotransplanted PGs, according to their visual scores. The means of IGFA-PS for PGs scored as 0, 1 or 2 on visual inspection were 48.58 ± 4.49 [30-70], 89.65 ± 8.93 [36-144] and 158.76 ± 8.93 [70-253], respectively, which correlated with the visual PSs in a statistically significant manner (P < 0.0001). The predictive cut-off value for IGFA-PS was determined to be 70, given a visual PS of 0 (95% CI [0.72-0.85]), and this was interpreted to be a candidate cut-off point for the autotransplantation of PGs. Conclusion IGFA scoring may be considered as an operative predictor, providing objective criteria to evaluate the tissue and blood perfusion of PGs after thyroidectomy. IGFA scoring may be considered to have value in minimising postoperative permanent hypoparathyroidism in patients.

Tratamiento de hipoparatiroidismo con parathormona recombinante humana [rhPTH(1-84)] / Hypoparathyroidism treated with recombinant human parathyroid hormone [rhPTH(1-84)]

El hipoparatiroidismo (hipoPTH) es una enfermedad infrecuente caracterizada por hipocalcemia y niveles inapropiadamente bajos o ausentes de parathormona. Presentamos el caso de un hombre de 25 años, deportista de alto rendimiento, con antecedente de hipoPTH secundario a tiroidectomía total dos años antes por cáncer papilar multifocal bilateral tiroideo, estadificado como T3 N1b M0, derivado por hipocalcemia sintomática. Presentaba calcemias promedio de 7mg%, síntomas de hipocalcemia en reposo y múltiples internaciones. Inicialmente, se optimizó tratamiento convencional con aporte de calcio vía oral hasta 12g/día, vitamina D y calcitriol, sin mejoría clínica ni bioquímica. Se descartaron malabsorción y complicaciones crónicas de hipoPTH. Se evidenció a través de cuestionario de salud SF-36 disminución de la calidad de vida. Se indicó sustitución con parathormona recombinante humana [rhPTH(1-84)] 50μg/día subcutánea con posterior ascenso a 75μg y reducción progresiva de la medicación por vía oral. Actualmente se encuentra asintomático, sin requerimiento de calcio ni vitamina D, mantiene calcemias de 9mg%, realiza actividad deportiva y demuestra marcada mejoría en la calidad de vida según cuestionario SF-36 (36-Item Short Form Health Survey).

Hypoparathyroidism (HypoPT) is a rare disease characterized by low calcium and inappropriately low circulating parathormone levels. We present the case of a 25-year-old high-performance athlete male, with history of HypoPT after total thyroidectomy for papillary thyroid carcinoma (T3 N1b M0) two years before, who was referred to our clinic for symptomatic hypocalcemia. The patient reported serum calcium average levels of 7mg%, presented symptoms of hypocalcemia at rest and had multiple hospital admissions. First, standard treatment was optimized by calcium supplementation up to 12g/d and active vitamin D, not showing clinical or biochemical improvement. Malabsorption and complications of chronic HypoPT were ruled out. The 36-Item Short Form Health Survey (SF-36) demonstrated an impaired quality of life (QoL). Full-length recombinant human parathyroid hormone [rhPTH(1-84)] therapy was started with 50μg/d subcutaneous, and later adjusted to 75μg/d and the oral treatment gradually decreased. Currently, he is asymptomatic, with serum calcium levels above 9mg%, without receiving oral medication. He performs sports activity and shows marked improvement in quality of life according to SF-36 questionnaire.

Characteristics of hypoparathyroidism in Colombia: data from a single center in the city of Medellín

ABSTRACT Objective Hypoparathyroidism is a rare condition, whose most common etiology is complications of neck surgery. The aim of the study was to identify the clinical and biochemical profile of the patients with diagnosis of hypoparathyroidism, including the frequency of symptoms, clinical signs, long-term complications and disease control. Additionally, the study sought to know what the medication profile was, and the doses required by the patients. Subjects and method A retrospective cohort study was conducted wherein all patients with ICD-10 codes associated with hypoparathyroidism between 2011 and 2018 at the Hospital Universitario San Vicente Fundación were included. We investigated the etiology of the disease; biochemical profile including lowest serum calcium, highest serum phosphorus, 25OHD levels, calciuria and calcium/phosphorus product; medication doses, disease control, and presence of complications, especially renal and neurologic complications were also evaluated. Results The cohort included 108 patients (99 women/9 men) with a mean age of 51.6 ± 15.6 years. The main etiology was postoperative (93.5%), the dose of elemental calcium received was relatively low (mean 1,164 mg/day), and in only 9.2% of cases more than 2,500 mg/day of elemental calcium was necessary. We were able to evaluate the follow-up in 89 patients, and found that only 57.3% met the criteria for controlled disease. Conclusion The clinical profile of patients with hypoparathyroidism in our cohort is similar to that described in other international studies, with predominantly postoperative etiology. With standard therapy, only adequate control is achieved in a little more than half of patients. Arch Endocrinol Metab. 2020;64(3):282-9

Hipoparatiroidismo y calcificaciones cerebrales: reporte de caso / Hypoparathyroidism and brain calcifications: a case report

Introducción. El hipoparatiroidismo es una enfermedad caracterizada por la ausencia o concentraciones inadecuadamente bajas de hormona paratiroidea (PTH), que conduce a hipocalcemia, hiperfosfatemia y excreción fraccional elevada de calcio en la orina. Las calcificaciones del sistema nervioso central son un hallazgo frecuente en estos pacientes. Caso clínico. Mujer de 56 años con antecedente de hipotiroidismo, que ingresó por un cuadro de 6 días de evolución caracterizado por astenia, parestesias periorales y movimientos anormales de manos y pies. Las pruebas de laboratorio demostraron hipocalcemia, hiperfosfatemia y niveles bajos de hormona paratiroidea. Se realizó una tomografía computarizada de cráneo que mostró áreas bilaterales y simétricas de calcificaciones en hemisferios cerebelosos, ganglios basales y corona radiata. No se evidenciaron trastornos en el metabolismo del cobre y hierro. Se estableció el diagnóstico del síndrome de Fahr secundario a hipoparatiroidismo y se inició tratamiento con suplementos de calcio y vitamina D con evolución satisfactoria. Discusión. El síndrome de Fahr es un trastorno neurológico caracterizado por el depósito anormal de calcio en áreas del cerebro que controlan la actividad motora. Se asocia a varias enfermedades, especialmente, hipoparatiroidismo. La suplementación con calcio y vitamina D con el objetivo de normalizar los niveles plasmáticos de estos cationes es el tratamiento convencional. (AU)

Introduction. Hypoparathyroidism is a disease characterized by absence or inappropriately low concentrations of circulating parathyroid hormone, leading to hypocalcaemia, hyperphosphataemia and elevated fractional excretion of calcium in the urine. Central nervous system calcifications are a common finding in these patients. Case report. 56-year-old woman with a history of hypothyroidism who was admitted for a 6-day course of illness characterized by asthenia, perioral paresthesias, and abnormal movements of the hands and feet. Laboratory tests showed hypocalcemia, hyperphosphatemia, and low parathyroid hormone levels. A cranial computed tomography was performed. It showed bilateral and symmetrical areas of calcifications in the cerebellar hemispheres, basal ganglia, and radiata crown. No disorders of copper or iron metabolism were evident. The diagnosis of Fahr syndrome secondary to hypoparathyroidism was established and treatment with calcium and vitamin D supplements was started with satisfactory evolution. Discussion. Fahr's syndrome is a neurological disorder associated with abnormal calcium deposition in areas of the brain that control motor activity. It is associated with various diseases, especially hypoparathyroidism. The conventional treatment is supplementation with calcium and vitamin D, with the aim of normalizing their plasma levels. (AU)

Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome / Características clínicas e análise genética e de cofatores de dobramento da tubulinaem pacientes iranianos com síndrome de Sanjad-Sakati

Abstract Objective Permanent hypoparathyroidism can be presented as part of genetic disorders such as Sanjad-Sakati syndrome (also known as hypoparathyroidism—intellectual disability-dysmorphism), which is a rare autosomal recessive disorder. Our aim was to confirm the diagnosis of a group of patients with dysmorphism, poor growth, and hypoparathyroidism clinically labeled as Sanjad-Sakati syndrome and to identify for the first time the genetic variations on Iranian patients with the same ethnic origin. Methods In this study, 29 cases from 23 unrelated Arab kindreds with permanent hypoparathyroidism and dysmorphism indicating Sanjad-Sakati syndrome were enrolled for 10 years in the southwest of Iran. The mutational analysis by direct sequencing of the tubulin folding cofactor E gene was performed for the patients and their families, as well as their fetuses using genomic DNA. Results Twenty-eight out of 29 cases had parental consanguinity. Twenty-seven cases presented with hypocalcemia seizure and two were referred because of poor weight gain and were found to have asymptomatic hypocalcemia. The dysmorphic features, hypocalcemia in the setting of low to normal parathyroid hormone levels and high phosphorus led to the diagnosis of these cases. Sequencing analysis of the tubulin folding cofactor E gene revealed a homozygous 12-bp deletion (c.155-166del) for all patients. Following that, prenatal diagnosis was performed for eight families, and two fetuses with a homozygous 12-bp deletion were identified. Conclusion These results make it much easier and faster to diagnose this syndrome from other similar dysmorphisms and also help to detect carriers, as well as prenatal diagnosis of Sanjad-Sakati syndrome in high-risk families in this population.

Resumo Objetivo O hipoparatireoidismo permanente pode estar presente como parte das doenças genéticas como na síndrome de Sanjad-Sakati (também chamada de síndrome de hipoparatireoidismo, retardo e dismorfismo), que é um distúrbio autossômico recessivo raro. Nosso objetivo foi confirmar o diagnóstico de um grupo de pacientes com dismorfismo, crescimento deficiente e hipoparatireoidismo clinicamente identificado como síndrome de Sanjad-Sakati e identificar as variações genéticas, pela primeira vez, em pacientes iranianos com a mesma origem étnica. Métodos Neste estudo, foram inscritos 29 casos de 23 famílias árabes sem parentesco com hipoparatireoidismo e dismorfismo indicando síndrome de Sanjad-Sakati, durante 10 anos no sudoeste do Irã. Foi feita a análise mutacional por sequenciamento direto do gene do cofator E de dobramento da tubulina dos pacientes e de suas famílias e também de seus fetos com o DNA genômico. Resultados Apresentaram consanguinidade parental 28 dos 29 casos. Desses, 27 casos apresentaram convulsão por hipocalcemia e dois foram encaminhados devido ao baixo ganho de peso, considerando diagnóstico de hipocalcemia assintomática. As características dismórficas, hipocalcemia na configuração de níveis de hormônio da paratireoide baixos a normais e alto nível de fósforo levaram ao diagnóstico dos casos. A análise de sequenciamento do gene do cofator E de dobramento da tubulina revelou deleção homozigótica de 12 pares de base (pb) (c.155-166del) em todos os pacientes. Após isso, foi feito o diagnóstico pré-natal em oito famílias e dois fetos foram identificados com deleção homozigótica de 12 pb. Conclusão Esses resultados tornam o diagnóstico dessa síndrome muito mais fácil e rápido do que outros dismorfismos semelhantes e também ajudam a detectar portadores, bem como o diagnóstico pré-natal da síndrome de Sanjad-Sakati em famílias de alto risco nessa população.

Incidencia de hipocalcemia posquirúrgica en tiroidectomías en el Hospital de Clínicas / Incidence of post-thyroidectomy hypocalcemia at the Clinicas Hospital / Incidência de hipocalcemia pós-cirúrgica em tireoidectomias no Hospital de Clínicas

Resumen: Introducción: la hipocalcemia es la complicación más frecuente en tiroidectomías. Objetivo: conocer la incidencia de hipocalcemia en las primeras 72 horas del posoperatorio y de hipoparatiroidismo permanente como complicación de las tiroidectomías en seis años. Pacientes y método: estudio descriptivo y retrospectivo de pacientes tiroidectomizados entre enero de 2011 y diciembre de 2016. Hipocalcemia: valor de calcio total <8,5mg/dl. Las variables fueron: sexo, edad, tipo y duración de cirugía, manifestaciones clínicas de hipocalcemia aguda y anatomía patológica; se cruzaron con la medida de valor mínimo de calcemia. Se consideró hipoparatiroidismo permanente cuando persistían bajo tratamiento por lo menos un año luego de cirugía. Resultados: total 141 casos, 130 mujeres, media de edad 45,9 años. El 95% presentó hipocalcemia en las primeras 72 horas del posoperatorio; por edad y sexo: <29 años, 90% (p 0,38), 30-49, 96% (p 0,4), 50-69, 98% (p 0,52) y >70, 92% (p 0,16); 97% de mujeres tuvo hipocalcemia y 91% de hombres (p 0,26). Duración de cirugía: < 130 minutos, 130-185, >185, hipocalcemia en 4, 2 y 1 pacientes respectivamente. Lesiones malignas en 60 pacientes, 58 tuvieron hipocalcemia; de 81 benignos, 76 la presentó (p 0,537). En grupo de tiroidectomías, 95% tuvo hipocalcemia (p<0,05). El 71% fue hipocalcemias asintomáticas, 10% tuvo síntomas y 19% sin datos. Ocho con hipoparatiroidismo permanente, en 11 no hubo datos. Conclusiones: la mayoría presentó hipocalcemia. No hubo correlación entre hipocalcemia con edad, sexo, duración de la cirugía ni resultado de anatomía patológica. En tiroidectomías hubo correlación con hipocalcemia. Uno de cada diez presentó síntomas de hipocalcemia. La incidencia de hipoparatiroidismo permanente fue de 6%.

Summary: Introduction: hypocalcemia is the most frequent complication in patients undergoing thyroidectomy. Objective: to learn about the incidence of hypocalcemia during the first 72-hour period after surgery and permanent hypoparathyroidism, as a complication of thyroidectomy in 6 years. Methods: descriptive and retrospective study of patients undergoing thyroidectomy between January 2011 and December 2016. Hypocalcemia is defined as total serum calcium concentration < 8.8 mg/dL. Variables considered cwere gender, age, type and duration of surgery, clinical manifestations of acute hypocalcemia and pathological anatomy, and they were crossed with the minimum measurement of calcemia. Permanent hypoparathyroidism was defined when patients were still under therapy at least one year after the surgery. Results: 141 patients, 130 women, average age was 45.9 years old. 95% of them presented hypocalcemia within the first 72 hours of the postoperative period; as to age and gender: <29 years old, 90% (p 0.38), 30 - 49, 96% (p 0.4), 50 - 69, 98% (p 0.52) and =70 92% (p 0.16); 97% of women and 91% of men (p 0.26) suffered from hypocalcemia. Duration of surgery: < 130 minutes, 130 - 185, >185, hypocalcemia was seen in 4, 2 and 1 patients respectively. Malignant lesions were found in 60 patients, 58 had hypocalcemia; out of 81 benign cases, 76 had hypocalcemia (p 0,537). In a group of thyroidectomies, 95% had hypocalcemia (p<0.05). 71% were asymptomatic hypocalcemia, 10% presented symptoms and there was no data for 19%. Eight of them have permanent hypoparathyroidism and there was no data for 11 cases. Conclusions: most patients presented hypocalcemia. There was no correlation between hypocalcemia and age, gender, duration of surgery or pathology results. Correlation was found between thyroidectomies and hypocalcemia. One out of ten presented symptoms of hypocalcemia. Incidence of permanent hypoparathyroidism was 6%.

Resumo: Introdução: a hipocalcemia é a complicação mais frequente nas tireoidectomias. Objetivo: conhecer a incidência de hipocalcemia nas primeiras 72 horas do pós-operatório e de hipoparatireoidismo permanente como complicação das tireoidectomias em 6 anos. Pacientes e métodos: estudo descritivo e retrospectivo, de tiroidectomizados entre janeiro de 2011 e dezembro de 2016. Considerou-se hipocalcemia o valor de cálcio total ?8,5mg/dl. As variáveis estudadas foram: gênero, idade, tipo e duração da cirurgia, manifestações clínicas de hipocalcemia aguda e anatomia patológica; estas variáveis foram cruzadas com o valor mínimo de calcemia. Considerou-se hipoparatireoidismo permanente quando persistiam sob tratamento pelo menos durante um ano pós-cirurgia. Resultados: foram estudados 141 pacientes sendo 130 mulheres, com idade média de 45,9 anos. 95% apresentou hipocalcemia nas primeiras 72 horas do pós-operatório; por idade e gênero: ?29 anos, 90% (p 0,38), 30 - 49, 96%(p 0,4), 50 - 69, 98%(p 0,52) e ?70, 92%(p 0,16); 97% das mulheres teve hipocalcemia e 91% dos homens (p 0,26). Duração da cirurgia: < 130 minutos, 130 - 185, ?185, hipocalcemia em 4, 2 e 1 pacientes respectivamente. Dos 60 pacientes com lesões malignas, 58 apresentaram hipocalcemia e 76 dos 81 casos benignos (p 0,537). No grupo de tireoidectomias, 95% tiveram hipocalcemia (p<0,05). 71% foram hipocalcemias assintomáticas, 10% apresentaram sintomas e em 19% não havia dados. Oito pacientes quedaram com hipoparatireoidismo permanente e em 11 não havia dados. Conclusões: a maioria apresentou hipocalcemia. Não se observou correlação entre hipocalcemia e idade, género, duração da cirurgia nem resultado da anatomia patológica. Nas tireoidectomias observou-se correlação com hipocalcemia. Um de cada 10 pacientes apresentou sintomas de hipocalcemia. La incidência de hipoparatireoidismo permanente foi de 6%.

Insuficiencia cardiaca secundaria a hipocalcemia asociada a hipoparatiroidismo: reporte de un caso / Heart failure secondary to hypocalcemia associated with hypoparathyroidism: a case report

La insuficiencia cardiaca debida a hipocalcemia es una extraña forma de cardiopatía metabólica, reversible en la mayoría de casos, secundaria a alteraciones endocrinológicas que provocan la disminución persistente del calcio sérico, como el hipoparatiroidismo. A continuación, se presenta el caso de una mujer de 23 años, a quien, al ingreso, se le diagnóstico de insuficiencia cardiaca severa. Durante su hospitalización, se evidenció sin-tomatología asociada con hipocalcemia, secundario a hipoparatiroidismo, por lo que inmediatamente se inició la reposición con calcio. Para prevenir el riesgo de muerte súbita, por la prolongación persistente del intervalo Q-T, se colocó un cardiodesfibrilador implantable; sin embargo, luego de 6 meses de tratamiento, a pesar de la suplementación con calcio oral, no se evidenció mejoría en la fracción de eyección, determinando un pronóstico incierto de la enfermedad

Heart failure due to hypocalcemia is a strange presentation of metabolic heart disease; it is reversible in most cases, and secondary to endocrinal alterations that cause the persistent decrease in serum calcium, such as hypoparathyroidism.A case of a 23-year-old woman who was diagnosed with severe heart failure is presented. During her hospitalization, there was evidence of symptoms associated with hypocalcemia, secondary to hypoparathyroidism, so the patient was treated with replacement of calcium immediately. To prevent the risk of sudden death, by the persistent prolongation of the Q-T interval, an implantable cardiac defibrillator was placed; however, after 6 months of treatment, despite oral calcium supplementation, there was no improvement in the ejection fraction, determining an uncertain prognosis of the disease.

Displasia ectodérmica hipohidrótica autosómica dominante asociada a hipoparatiroidismo / Autosomal dominant hypohidrotic ectodermal dysplasia associated to hypoparathyroidism

RESUMEN Las displasias ectodérmicas constituyen alteraciones de los derivados embriológicos del ectodermo. Paciente adulta, con hipoparatiroidismo, llamó la atención por su fenotipo y fue remitida de la consulta de Neurología a la consulta Genética. Se diagnosticó una displasia ectodérmica hipohidrótica, de origen genético con herencia autosómica dominante, poco común para esta entidad. Se presenta este caso con el objetivo de describir las manifestaciones clínicas de esta alteración genética, las cuales nunca fueron objeto de interés médico resultando inadvertidas para su estudio y diagnóstico. Esta alteración se asocia a una condición patológica como el hipoparatiroidismo, en la literatura revisada no se encontraron reportes de la misma. La evaluación clínica de la paciente permitió hacer el diagnóstico y explicar muchos de los problemas para los cuales no existían respuestas, así como ofrecer un asesoramiento genético adecuado para ella y para sus familiares con riesgo de padecer una condición genética similar.

ABSTRACT Ectodermic dysplasias are alterations of the ectoderm embryologic derivatives. This is a case of an adult female patient with hypoparathyroidism, drawing attention due to her phenotype; she was remitted by the consultation of Neurology to the Genetic one. She was diagnosed a hypohidrotic ectodermal dysplasia, of genetic origin with autosomal dominant inheritance, what is very rare for this entity. The case is presented with the aim of describing the clinical manifestation of this genetic alteration that never drew medical interest and nobody diagnosed or studied. It is associated to a pathologic condition like hypothyroidism and was not reported in medical literature before. The clinical evaluation of the patient allowed arriving to the diagnostic and explaining many problems that were unexplained, and also offering the adequate genetic advice to her and her relatives likewise at risk of suffering a similar genetic condition.

Hipoparatireoidismo secundário ao uso prolongado de omeprazol em um cão: relato de caso / Secondary hypoparathyroidism to omeprazole prolonged use in a dog: case report

O hipoparatireoidismo, quer seja primário ou secundário, é uma doença rara em cães, causada pela diminuição da secreção de paratormônio pelas paratireoides, que leva a sinais clínicos resultantes da hipocalcemia. O omeprazol vem sendo cada vez mais utilizado na medicina veterinária visando à diminuição na produção de líquor, mas existem poucos estudos sobre os efeitos colaterais relacionados ao uso crônico dessa medicação. Relata-se o caso de um cão macho da raça Yorkshire Terrier, com quatro anos de idade, com sinais clínicos de dor, sendo verificada calcificação em pelve e divertículo renal. Segundo o proprietário, o cão fazia uso de omeprazol há mais de dois anos devido ao histórico de hidrocefalia. Os exames laboratoriais evidenciaram anemia microcítica hipocrômica, hipocalemia, hiperfosfatemia, hipocalcemia, hipomagnesemia e hipercalciúria. A dosagem do paratormônio sérico confirmou o hipoparatireoidismo. Após a suspensão do omeprazol, as alterações encontradas nos exames se normalizaram, confirmando que a causa do hipoparatireoidismo era o uso crônico da medicação.(AU)

Primary or secondary hypoparathyroidism is a rare disease in dogs caused by the decreased secretion of parathormone from the parathyroid glands, leading to clinical signs of hypocalcemia. Omeprazole has been increasingly used in veterinary medicine in order to reduce the production of cerebrospinal fluid, but there are few reports of side effects related to its chronic use. We report a case of a four-year-old male Yorkshire terrier with clinical signs of pain, calcification in the pelvis and renal diverticulum. According to the owner, the dog had been receiving omeprazole for over 2 years because of the history of hydrocephalus. Hematological exams revealed hypochromic microcytic anemia, hypokalemia, hyperphosphatemia, hypocalcemia, hypomagnesemia besides hypercalciuria. The determination of serum parathyroid hormone concentrations confirmed hypoparathyroidism. After interrupting omeprazole, the altered features on the exams returned to normal values, confirming that the cause of hypoparathyroidism was the chronic use of the drug.(AU)

El cáncer diferenciado de tiroides: experiencia clínica frente a un panorama cambiante / Differentiated thyroid cancer: clinical experience in a changing scenario

Antecedentes: el cáncer de tiroides es el cáncer endocrino más frecuente, ha aumentado significativamente su incidencia y se han producido importantes cambios en su tratamiento. Objetivos: analizar una población de pacientes con cáncer diferenciado de tiroides tratados en el Hospital Universitario Austral, evaluar sus resultados y discutir las nuevas tendencias en su manejo. Material y métodos: revisión retrospectiva de una serie de 344 pacientes operados entre mayo de 2001 y mayo de 2015; se realizaron 331 tiroidectomías totales y 13 lobectomías, con linfadenectomía central en el 82% y lateral en el 9 %, según hallazgos clínicos o ultrasonográficos. El 80% correspondieron al sexo femenino y el 95% fueron carcinomas papilares. De acuerdo con TNM, el 65 % fueron T1, 41% T1a (microcarcinomas) y, según ATA, el 87 % tenían bajo riesgo de recurrencia. El 34 % de los vaciamientos centrales y todos los laterales presentaron metástasis ganglionares, y solo el 1,8% presentó metástasis a distancia. El 73% de los pacientes recibieron I131 en dosis de 30 a 150 mCi (milicurios). Resultados: la supervivencia global fue del 99,2% con seguimiento promedio de 40,2 meses, con 0,8% de hipoparatiroidismo definitivo y 0,8% de parálisis recurrencial definitiva. Conclusiones: 1) casi el 80% de la población operada correspondía a estadios tempranos con bajo riesgo de recurrencia, 2) más del 40% correspondió a microcarcinomas, 3) los resultados obtenidos son similares a los comunicados por centros de alto volumen, 4) las conductas terapéuticas coincidieron con las recomendaciones de las guías en vigencia y con las nuevas tendencias en el manejo del cáncer diferenciado de tiroides.

Background: Thyroid cancer is the most common type of endocrine cancer with an incidence that is significantly increasing and with important treatment changes. Objectives: The aim of this study was to analyze a population of patients with differentiated thyroid cancer treated at the Hospital Universitario Austral, evaluate the outcomes and discuss the new trends in thyroid cancer management. Material and methods: A series of 344 patients undergoing thyroid surgery between May 2001 and May 2015 were retrospectively reviewed: 331 total thyroidectomies and 13 lobectomies. Central lymph node dissection was performed in 82% of the cases and lateral lymph node dissection in 9%, based on clinical and ultrasound findings. Most patients were women (80%) and 95% were papillary thyroid cancers. According to the TNM classification, 65% were T1, 41% T1a (microcarcinomas) and 87% corresponded to the ATA low risk of recurrence category. Lymph node metastases were present in 34% of the central neck lymph nodes and in all the lateral lymph nodes dissected, and only 1.8% presented distant metastasis. Radioactive iodine was used in 73% of the patients in doses between 30 and 150 mCi. Results: Overall survival was 99.2% with a mean follow-up of 40.2 months; 0.8% presented permanent hypoparathyroidism and 0.8% of the patients presented permanent recurrent laryngeal nerve palsy. Conclusions: 1) almost 80% of the patients undergoing surgery corresponded to early stages of the disease with low risk of recurrence; 2) more than 40% were microcarcinomas; 3) the results obtained are similar to those reported by high-volume centers; and 4) the review of this experience is similar to that reported by current practice guidelines, and the therapeutic approaches are in line with the recommendations of the current practice guidelines and with the new trends in the management of differentiated thyroid cancer.

Hypoparathyroidism: what is the best calcium carbonate supplementation intake form? / Hipoparatireoidismo: qual é a melhor forma de ingestão de suplemento de carbonato de cálcio?

Abstract Introduction: In hypoparathyroidism, calcium supplementation using calcium carbonate is necessary for the hypocalcemia control. The best calcium carbonate intake form is unknown, be it associated with feeding, juice or in fasting. Objective: The objective was to evaluate the calcium, phosphorus and calcium × phosphorus product serum levels of hypoparathyroidism women after total thyroidectomy, following calcium carbonate intake in three different forms. Methods: A crossover study was carried out with patients presenting definitive hypoparathyroidism, assessed in different situations (fasting, with water, orange juice, breakfast with a one-week washout). Through the review of clinical data records of tertiary hospital patients from 1994 to 2010, 12 adult women (18-50 years old) were identified and diagnosed with definitive post-thyroidectomy hypoparathyroidism. The laboratory results of calcium and phosphorus serum levels dosed before and every 30 min were assessed, for 5 h, after calcium carbonate intake (elementary calcium 500 mg). Results: The maximum peak average values for calcium, phosphorus and calcium × phosphorus product were 8.63 mg/dL (water), 8.77 mg/dL (orange juice) and 8.95 mg/dL (breakfast); 4.04 mg/dL (water), 4.03 mg/dL (orange juice) and 4.12 mg/dL (breakfast); 34.3 mg2/dL2 (water), 35.8 mg2/dL2 (orange juice) and 34.5 mg2/dL2 (breakfast), respectively, and the area under the curve 2433 mg/dL min (water), 2577 mg/dL min (orange juice) and 2506 mg/dL min (breakfast), 1203 mg/dL min (water), 1052 mg/dL min (orange juice) and 1128 mg/dL min (breakfast), respectively. There was no significant difference among the three different tests (p > 0.05). Conclusion: The calcium, phosphorus and calcium × phosphorus product serum levels evolved in a similar fashion in the three calcium carbonate intake forms.

Resumo Introdução: No hipoparatireoidismo, a suplementação de cálcio com carbonato de cálcio é necessária para o controle da hipocalcemia. A melhor forma de ingestão de carbonato de cálcio ainda é desconhecida, seja concomitante com alimentação, no suco ou em jejum. Objetivo: Avaliar os níveis séricos de cálcio, fósforo e produto cálcio-fósforo em mulheres pós-tireoidectomia por hipoparatireoidismo, após a ingestão de carbonato de cálcio em três formas diferentes. Método: Foi realizado um estudo cruzado em pacientes com hipoparatireoidismo definitivo, avaliados em diferentes situações (em jejum, com água, suco de laranja, café da manhã, após washout de uma semana). A revisão dos prontuários dos pacientes de um hospital terciário de 1994 a 2010 identificou 12 mulheres adultas (18-50 anos), diagnosticadas com hipoparatireoidismo definitivo pós-tireoidectomia. Os resultados laboratoriais dos níveis séricos de cálcio e fósforo foram mensurados antes e a cada 30 minutos durante 5 horas, após a ingestão de carbonato de cálcio (cálcio elementar 500 mg). Resultados: Os valores de pico máximo médio de cálcio, fósforo e produto cálcio-fósforo foram 8,63 mg/dL (água), 8,77 mg/dL (suco de laranja) e 8,95 mg/dL (café da manhã); 4,04 mg/dL (água), 4,03 mg/dL (suco de laranja) e 4,12 mg/dL (café da manhã); 34,3 mg2/dL2 (água), 35,8 mg2/dL2 (suco de laranja) e 34,5 mg2/dL2 (café da manhã), respectivamente, e a área sob a curva foi 2.433 mg/dL.min. (água), 2.577 mg/dL.min. (suco de laranja) e 2.506 mg/dL.min. (café da manhã), 1.203 mg/dL.min. (água), 1.052 mg/dL.min. (suco de laranja) e 1.128 mg/dL.min. (café da manhã), respectivamente. Não houve diferença significante entre os três diferentes testes (p > 0,05). Conclusão: Os níveis séricos de cálcio, fósforo e produto cálcio-fósforo evoluíram de forma semelhante nas três formas de ingestão de carbonato de cálcio.

HDR syndrome in a Colombian woman with a genital tract malformation: first case report in Latin America / Síndrome HDR en una mujer colombiana con una malformación genitourinaria: primer reporte de caso en Latinoamérica

ABSTRACT Objectives Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome, also known as Barakat syndrome, is an autosomal dominant transmission hereditary disease with a wide range of penetrance and expressivity. Haploinsufficiency of the GATA3 two finger zinc transcription factor is believed to be its cause. This is the first time this orphan disease is reported in Latin America, so the publishing of this report is expected to raise awareness on these types of syndrome, that are usually underdiagnosed in our region, which in turn causes an increase in the years lost to disability (YLDs) rates, as well as higher costs to be assumed by public health systems. Methods A 36-year-old Colombian woman diagnosed with parathyroid gland agenesis was referred from the Endocrinology Service to the Outpatient Service. According to her medical record, in the past she had developed hypocalcaemia, left renal agenesis, hypoparathyroidism, bicornate uterus and sensorineural hearing loss. Through a genetic analysis a pathological mutation on the short arm of the GATA 3 gen (c.404dupC, p Ala136 GlyfsTER 167) was confirmed, which led to a HDR syndrome diagnosis. Discussion This case proves that there is a possibility that mutations described in other continents may be developed by individuals from our region. Regardless of ethnicity, Barakat syndrome should be considered as a possible diagnosis in patients presenting the typical triad that has been described for this condition, since there could be underdiagnosis of this disease in Latin-America due to the lack of knowledge on this condition in said region, and that genetic counseling in these patients is of great importance for the implications of the syndrome in future generations.(AU)

RESUMEN Objetivos El síndrome de hipoparatiroidismo, sordera neurosensorial y displasia renal (HDR) también llamado síndrome de Barakat, es una enfermedad hereditaria de transmisión autosómica dominante con amplia penetrancia y expresividad genética. El síndrome es causado por la haploinsuficiencia del factor de transcripción de dedos de Zinc GATA3. Esta es la primera vez que esta enfermedad huérfana es reportada en latinoamerica, y buscamos generar consciencia de la presencia de estas enfermedades, las cuales usualmente son infradiagnósticadas en nuestro medio y llevan a un aumento de años perdidos por discapacidad y costos para el sistema de salud pública. Métodos Una mujer colombiana de 36 años ingresó a consulta externa de genética referida por el servicio de endocrinología por una agenesia de paratiroides. La paciente tenía antecedentes de hipocalcemia, agenesia renal izquierda, hipoparatiroidismo, sordera neurosensorial y útero bicorneo. Se realizó un análisis genético que confirmo una mutación patológica en el brazo corto del gen GATA3 (c.404dupC, p Ala136 GlyfsTER 167) diagnóstica del síndrome de Barakat. Discusión Este caso demuestra la posibilidad de existencia de mutaciones descritas en otros continentes en nuestra población. Sin importar la etnia, el síndrome de Barakat debe ser estudiado en pacientes que presenten la triada típica, ya que podría existir un infra diagnóstico de la enfermedad secundario al desconocimiento de la misma en Latinoamérica y teniendo en cuenta la importancia que tiene la consejería genética en estos pacientes por las implicaciones de la enfermedad en futuras generaciones.(AU)