Relationship between parathyroid adenoma size, weight and histological subtypes with perioperative serum levels.

AIMS: This study aims to identify associations between parathyroid adenoma (PTA) characteristics (histology, weight and size) with the change in parathyroid hormone (PTH) and calcium levels. METHODS: A historical cohort study was conducted on adult patients with solitary PTA removed in the Gold Coast Health Precinct, Australia, between 2017 and 2022. RESULTS: PTA weight is correlated with the change in day 1 PTH level (r=0.26, p=0.036), the change in day 1 corrected calcium level (r=0.20, p=0.033), and the change in follow-up corrected calcium level (r=0.47, p<0.001). The largest dimension (size) of PTA is also correlated with the change in day 1 PTH (r=0.30, p=0.011) and the change in follow-up corrected calcium level (r=0.40, p<0.001). Adjusted for age and gender, a statistically significant negative correlation was found between day 1 PTH level and adenoma size, resulting in a 0.5% change in size for every percentage change in PTH level (equating to a 5.0% increase in variance explained, p=0.038). Similarly, a negative correlation was identified in day 1 corrected calcium levels and weight, with a 4.7% change in weight for every percentage of change in day 1 corrected calcium level (an increase of 5.6% variance explained, p=0.010). In addition, a negative correlation was identified, where every 3.1% change in size (an increase of 17.4% variance explained, p<0.001) and 7.6% change in weight (an increase of 22.7% variance explained, p<0.001) was seen with every percentage change in follow-up corrected calcium levels. Clear-cell PTA had the most significant percentage fall in day 1 corrected calcium levels compared with other PTA subtypes (p=0.007). CONCLUSIONS: Preoperative calcium and PTH levels correlate with PTA weight and size. The degree of change in postoperative corrected calcium levels behaved differently in the clear-cell subtype.

Association between lithium treatment and renal, thyroid and parathyroid function: A cohort study of 6659 patients with bipolar disorder.

OBJECTIVES: Although potential adverse effects of lithium treatment on renal and endocrine systems have been extensively investigated, most prior studies are limited by selected populations and short follow-up. METHODS: Within the Psychiatric Services of the Central Denmark Region, we identified all patients with bipolar disorder and ≥1 serum-lithium (se-Li) measurements between January 1, 2013, and July 20, 2022, and reference patients with bipolar disorder matched on age, sex, and baseline creatinine. Outcomes were diagnoses of renal, thyroid and parathyroid disease, and blood tests measuring creatinine, estimated glomerular filtration rate (eGFR), thyroid-stimulating hormone (TSH), parathyroid hormone (PTH) and calcium. Analyses included unadjusted multilevel regression to describe changes in biochemical markers, and adjusted Cox regression to compare rates of disease/biochemical outcomes between lithium users and reference patients. RESULTS: Among 1646 lithium users (median age 36 years, 63% women) and 5013 reference patients, lithium users had decreasing TSH and eGFR, stable PTH, and increasing calcium levels over time. Lithium use was associated with increased rates of renal, thyroid and parathyroid disease, and levels of biochemical markers outside normal ranges (hazard rate ratios: 1.07-11.22), but the absolute number of severe outcomes was low (e.g., chronic kidney disease: N = 10, 0.6%). Notably, the rate of blood testing was substantially higher among lithium users than among reference patients (e.g., mean number of creatinine tests during the second year of follow-up: lithium users = 2.5, reference patients = 1.4). CONCLUSIONS: Severely adverse renal and endocrine outcomes are rare during lithium treatment. Observational studies of long-term lithium treatment are prone to detection bias.

Hipercalcemia asociada a hiperparatiroidismo primario: enfoque y manejo a partir de un caso clínico

Introducción: el calcio es el electrolito más abundante del cuerpo humano y la hipercalcemia es el trastorno común causado normalmente por el hiperparatiroidismo primario o malignidad, su manejo depende de la presentación y causa subyacente. Además, una proporción de casos se presentan como una emergencia, lo que conlleva a una mortalidad significativa. Objetivo: mostrar un caso inusual de presentación clínica de hipercalcemia asociada a hiperparatiroidismo primario y, asimismo, dar una breve revisión acerca del enfoque y el manejo de esta patología. Presentación del caso: paciente femenina de 32 años, antecedente de adenoma paratiroideo no resecado y pancreatitis, asiste por tres días de dolor abdominal de tipo cólico y de moderada intensidad, acompañado de episodios eméticos de contenido alimentario, paraclínicos iniciales con hipercalcemia severa, electrocardiograma con bloqueo auriculoventricular grado I, gases arteriales con alcalosis respiratoria aguda e hiperlactatemia. También se le practicó un TAC de abdomen donde este apareció con tumores pardos. Se ingresó a la UCI para la administración de líquidos endovenosos, diuréticos de asa y cinacalcet, pero no presentó mejoría, por lo que se indicó terapia de hemodiálisis. Discusión y conclusión: la hipercalcemia es un hallazgo frecuente. El hiperparatiroidismo primario y la neoplasia maligna son las dos causas más frecuentes de aumento de los niveles de calcio sérico y, en conjunto, representan alrededor del 90 % de todos los casos, donde los valores en suero varían entre el calcio total (8,5 y 10,5 mg/dl) y el iónico (1,16-1,31). La concentración sérica de Ca 2+ está estrechamente relacionada por las acciones de la hormona paratiroidea y el calcitriol, donde el hiperparatiroidismo primario ocurre como resultado de adenomas, hiperplasias y carcinoma. Las manifestaciones clínicas y la severidad van a estar correlacionadas con el tiempo de duración de la enfermedad, los niveles de calcio y de PTH. Dentro del tratamiento, este será guiado por su causa, sin embargo, es posible clasificarlo en tratamiento urgente y no urgente. Además, el enfoque de la hipercalcemia aguda severa es un reto diagnóstico dadas las múltiples causas que pueden llevar a este trastorno hidroelectrolítico y la rápida instauración de tratamiento que se requiere cuando es detectada.

Background: Calcium is the most abundant electrolyte in the human body, hypercalcemia is a common disorder usually caused by primary hyperparathyroidism or malignancy. A proportion of cases presenting as an emergency, leading to significant mortality. The management of hypercalcemia depends on the presentation and underlying cause. Purpose: to present an unusual case of clinical presentation of hypercalcemia associated with primary hyperparathyroidism, as well as to give a brief review about the approach and management of this pathology. Case presentation: A 32-year-old female patient, with a history of unresected parathyroid adenoma and pancreatitis, attended for 3 days of abdominal pain, moderate intensity, accompanied by emetic episodes of food content, initial paraclinical findings showed severe hypercalcemia, electrocardiogram with block grade I atrioventricular, arterial gases with acute respiratory alkalosis and hyperlactatemia. CT of the abdomen with brown tumors. She was admitted to the ICU for administration of intravenous fluids, loop diuretics, and cinacalcet without showing any improvement, so hemodialysis therapy was indicated. Discussion and conclusion: hypercalcemia is a frequent finding. Primary hyperparathyroidism and malignancy are the two most common causes of elevated serum calcium levels, together accounting for about 90 % of all cases. Serum values vary between total calcium 8.5 and 10.5 mg/dl and ionic 1.16- 1.31. Serum Ca 2+ concentration is closely related by the actions of parathyroid hormone and calcitriol. Primary hyperparathyroidism occurs as a result of adenomas, hyperplasias, or carcinoma. The clinical manifestations and severity will be correlated with the duration of the disease, calcium and PTH levels. Within the treatment, this will be guided by its cause, however, it is possible to classify it into urgent and non-urgent treatment. The approach to severe acute hypercalcemia is a diagnostic challenge given the multiple causes that can lead to this hydroelectrolyte disorder and the rapid establishment of treatment that is required when it is detected.

Revision parathyroid surgery - challenges and considerations in comparison to primary surgery.

OBJECTIVE: Revision parathyroidectomy is made necessary by recurrent or persistent parathyroid disease. This study aimed to identify challenges in revision surgery compared to primary parathyroid surgery. METHODS: All revision parathyroidectomies performed by one surgeon over a 17-year period were assessed for demographics, imaging, histology, biochemistry, cure rate, gland weight, gland location and gland ectopia, and compared to a series of 100 primary parathyroidectomies. RESULTS: Twenty-eight revision surgical procedures were identified. Sestamibi scanning for gland localisation was superior to ultrasound in both primary and revision surgery. Pre-operative calcium and gland weight were significantly higher in revision cases. There were no significant differences in post-operative calcium levels, pre- or post-operative parathyroid hormone levels, or gland location. 36 per cent of glands excised in revision surgery were ectopic, compared to 25 per cent in primary procedures. The cure rate was significantly lower in revision surgery. CONCLUSION: Revision parathyroidectomy patients present with higher pre-operative calcium and larger adenomas; the cure rate is significantly lower in these patients.

Actualización en cirugía tiroidea y paratiroidea de acceso remoto / Update in thyroid and parathyroid remote access surgery

Introducción y objetivo: El desarrollo de las técnicas de acceso remoto para cirugía de tiroides y paratiroides en los últimos años ha llevado a la consolidación de las cuatro configuraciones que actualmente se utilizan de manera estándar. El objetivo de esta revisión es describir la experiencia acumulada en tiroidectomía y paratiroidectomía por abordaje axilar, axilo-pectoral bilateral, retroauricular y transoral, así como exponer los resultados publicados por los diferentes grupos.Síntesis: El abordaje transaxilar fue el primero que se describió y tiene las series más antiguas y algunas de las más numerosas, cuyos resultados reproducen los estándares de la cirugía abierta para las mismas indicaciones. Sin embargo en los últimos años se ha ido abandonando a favor de abordajes alternativos. El abordaje retroauricular se describió inicialmente para la cirugía de tiroides, pero sus indicaciones han migrado hacia otra patología cervical. El abordaje axilopectoral bilateral ha sido extensamente utilizado en cirugía de tiroides y reproduce no solo los exigentes estándares respecto a las lesiones recurrenciales y el hipopartiroidismo postoperatorio, sino también los estándares oncológicos en el manejo quirúrgico del carcinoma diferenciado de tiroides. El abordaje transoral / transvestibular, el último en llegar, se encuentra en franca expansión y es potencialmente aplicable a la mayoría de los casos quirúrgicos de tiroides y paratiroides.Conclusiones: Las técnicas de acceso remoto han demostrado ser seguras y eficaces. El volumen de actividad publicado y los resultados las convertirían ya en procedimientos estándar, aunque sigue siendo necesario comprobar en series multicéntricas prospectivas la reproductibilidad de los resultados. (AU)

Introduction and objective: In the last years the development of remote access techniques for thyroid and parathyroid surgery has led to the consolidation of the four configurations that are currently used as standards. The objective of this review is to describe the accumulated experience in thyroidectomy and parathyroidectomy by axillary, bilateral axillo-breast, retroauricular and transoral approaches, as well as to present the results published by the different groups. Synthesis: The axillary approach was the first to be described and it has the oldest and some of the biggest series, which reproduce the standard results of open surgery for the same indications. However, in recent years it has been progresively abandoned in favor of alternative approaches. The retroauricular approach was initially described for thyroid surgery, but its indications have migrated to another cervical diseases. The bilateral axillo-breast approach has been widely used in thyroid surgery and reproduces not only the demanding standards regarding recurrent laryngeal nerve lesions and postoperative hypoparatyroidism, but also the oncological standards in the surgical management of differentiated thyroid carcinoma. The transoral / transvestibular approach, the last to arrive, is expanding and it is potentially applicable to most thyroid and parathyroid surgical cases.Conclusions: Remote access techniques have proven to be safe and effective. The volume of activity already published and the results would already make them standard procedures, although it is still necessary to verify the reproducibility of the results in prospective multicenter series. (AU)

Hiperparatiroidismo terciario, reporte de un caso / Tertiary hyperparathyroidism, a case report

RESUMEN Introducción: el exceso de actividad hormonal biológica de origen paratiroideo es motivo de consulta frecuente en la práctica endocrinológica, aunque también acuden remitidos de servicios como nefrología, ortopedia o cirugía maxilofacial por las variadas presentaciones clínicas de la enfermedad. Presentación del caso: paciente femenina, de 34 años de edad, con antecedentes patológicos personales de insuficiencia renal crónica. Acudió a la institución por presentar cambios en su aspecto corporal, sobre todo a nivel del macizo facial. El examen físico mostró alteraciones ostio-mio-articulares. La radiografía de pelvis mostró una disminución de la densidad ósea y diástais de la sínfisis del pubis. La ganmagrafía de paratiroides en dos fases detectó hiperplasia paratiroidea. La tomografía axial computarizada de cráneo mostró marcada destrucción y reabsorción ósea. Se planteó un hiperparatiroidismo terciario. Conclusiones: el hiperparatiroidismo terciario constituye una de las causas menos frecuentes de hiperfunción paratiroidea; puede presentarse como consecuencia de un trastorno renal que se perpetúa en el tiempo. El diagnóstico y tratamiento oportuno disminuye incidencia de comorbilidades. La paratiroidectomía representa el tratamiento de elección, con altas tasas de curación.

ABSTRACT Introduction: the excess of biological hormonal activity of parathyroid origin is a frequent reason for consultation in endocrinological practice, although referrals from services such as nephrology, orthopedics or maxillofacial surgery are also referred due to the varied clinical presentations of the disease. Case presentation: a 34-year-old female patient with a personal medical history of chronic renal failure. He went to the institution for presenting changes in his body appearance, especially at the level of the facial massif. The physical examination showed ostio-myo-articular alterations. The pelvic X-ray showed decreased bone density and diastasis of the pubic symphysis. Two-stage parathyroid scan detected parathyroid hyperplasia. Computed tomography of the skull showed marked bone destruction and resorption. Tertiary hyperparathyroidism was suggested. Conclusions: tertiary hyperparathyroidism is one of the less frequent causes of parathyroid hyperfunction; It can occur as a consequence of a renal disorder that is perpetuated over time. Timely diagnosis and treatment decreases the incidence of comorbidities. Parathyroidectomy represents the treatment of choice, with high cure rates.

Spontaneous extracapsular parathyroid adenoma hemorrhage: when surgery is required?

PURPOSE: Spontaneous bleeding is a rare but serious complication of parathyroid adenomas and few cases were reported in the literature. Clinical manifestations and treatment may vary but sometimes an immediate surgery is required. In other cases a conservative approach can be preferred based on clinical stability and patients' conditions. The purpose of this work is to describe our case and to carry out a review of the current literature on this topic. METHODS: We reported a case of a parathyroid adenoma hemorrhage in an elderly patient describing its management. Moreover, a literature review of 57 cases was carried out, with the aim of collecting data about the most involved parathyroid gland and identifying the most correct management based on clinical manifestations and chosen treatments. RESULTS: The patients had an age between 29 and 81 years (mean 56.9 ± 16.4 years). Forty-four patients were females (77.2%), whereas 12 were males (21.8%). Based on clinical severity, age, comorbidities and calcemic status, three possible scenarios were identified, each with a recommended management. CONCLUSIONS: In parathyroid adenoma hemorrhages a careful clinical assessment is crucial to identify emergency conditions requiring immediate intubation, tracheostomy or neck exploration. Elderlies and comorbid patients have a higher risk of perioperative complications and indication for surgery should be evaluated case by case: whenever feasible, a conservative approach should be preferred in these subjects, especially in those with a stable course and without hypercalcemia-related symptoms.

Parathyroid hemangioma.

BACKGROUND: Hemangiomas are benign neoplasms of capillary proliferation that arise from a developmental anomaly where angioblastic mesenchyme fails to form canals. Most hemangiomas arise in the head and neck region, either superficially in the skin or deeper within endocrine organs such as the parotid gland. Parathyroid hemangiomas, however, are extremely rare, with only five cases previously reported in the literature. CASE PRESENTATION: Herein, we present a case of a 68-year-old man with a hemangioma almost completely replacing the right upper parathyroid gland, grossly measuring 1.3 × 1.3 × 1.2 cm and weighing 700 mg, associated with primary hyperparathyroidism. CONCLUSIONS: Parathyroid gland enlargement due to vascular neoplasms such as hemangiomas can mimic, both clinically and radiographically, hyperplasias and/or adenomas. Surgeons need to be aware of the presence of this entity and should consider it in the differential diagnosis of hyperparathyroidism or parathyroid gland enlargement.

Is there a consensus between clinical practice guidelines for conventional and molecular nuclear medicine studies in parathyroid pathology?

Hyperparathyroidism is a common calcium metabolic disorder, characterized by the presence of high concentrations or inappropriately normal concentrations of parathyroid hormone (PTH) in the context of high calcium. Pharmacological and surgical management is available as treatment. The objective of diagnostic imaging is to determine the location of the causal lesion. For these purposes, non-invasive methods can be divided into anatomical or functional studies, with nuclear medicine studies being in the latter category. The objective of this review, is to establish the similarities and differences that exist in the clinical practice guidelines on conventional and molecular nuclear medicine studies in parathyroid disease.

Unusual Endocrinopathies in 18q Deletion Syndrome: Pseudoparathyroidism and Hyper-/Hypo-Thyroidism.

OBJECTIVE: To describe new and unusual endocrinopathies in children with de novo 18q deletion (18q-) syndrome. METHODS: We describe 2 patients who have atypical thyroid conditions and 1 who also developed symptomatic hypocalcemia. RESULTS: The first patient developed hyperthyroidism at the age of 3 years, with a free thyroxine level of 3.9 (range, 0.8-1.8) ng/dL. Thyroid peroxidase antibodies were 262 (range, 0-32) IU/mL, and thyroid-stimulating immunoglobulin antibodies were 384% (range, 0-139%). On low-dose methimazole treatment, she developed hypothyroidism. Thyroid-stimulating hormone (TSH) level was 163 (range, 0.4-4.5) mIU/mL. Moreover, she later developed growth hormone deficiency. The second patient developed hypothyroidism at the age of 4 years, with a TSH level of 46 mIU/mL. However, TSH remained elevated at levels of 10 to 24 mIU/mL for 3 years, despite appropriate treatment, suggesting TSH resistance. She then developed hypocalcemic seizures and was diagnosed with pseudohypoparathyroidism. Her total calcium level was 6.6 (range, 8.5-10.5) mg/dL and parathyroid hormone level was 432 (range, 15-65) pg/dL. CONCLUSION: The first patient had a mixed picture of autoimmune hypothyroidism and hyperthyroidism, requiring a combination of methimazole and levothyroxine to achieve a euthyroid state. For the second patient, the mild TSH resistance was possibly the early suggestion of a parathyroid hormone resistant state. Although growth hormone deficiency and hypothyroidism are common in patients with 18q- syndrome, the occurrence of hyperthyroidism due to Graves' disease with the coexistence of Hashimoto's hypothyroidism is rare. Pseudohypoparathyroidism has not yet been reported in patients with 18q- syndrome.

Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma.

Purpose: Hyperparathyroidism is the third most common endocrine disease. Parathyroid adenoma (PA) accounts for approximately 85% of cases of primary hyperparathyroidism, but the molecular mechanism is not fully understood. Herein, we aimed to investigate the genetic and transcriptomic profiles of sporadic PA. Methods: Whole-exome sequencing (WES) and transcriptome sequencing (RNA-seq) of 41 patients with PA and RNA-seq of 5 normal parathyroid tissues were performed. Gene mutations and characterized expression changes were identified. To elucidate the molecular mechanism underlying PA, unsupervised consensus clustering of RNA-seq data was performed. The correlations between the sequencing data and clinicopathological features of these patients were analyzed. Results: Previously reported PA driver gene mutations, such as MEN1 (9/41), mTOR (4/41), ZFX (3/41), CASR (3/41), EZH2 (2/41) and FAT1 (2/41), were also identified in our cohort. Furthermore, somatic mutation of EZH1, which had not been reported in PA, was found in 4 samples. RNA-seq showed that the expression levels of 84 genes were upregulated and 646 were downregulated in PA samples compared with normal samples. Unsupervised clustering analysis of RNA-seq data clustered these patients into 10 subgroups related to mutation or abnormal expression of a group of potential pathogenic genes. Conclusion: MEN1, EZH2, CASR, EZH1, ZFX, mTOR and FAT1 mutations in PA were revealed. According to the RNA-seq data clustering analysis, cyclin D1, ß-catenin, VDR, CASR and GCM2 may be important factors contributing to the PA gene expression profile.

The changing face of reoperative parathyroidectomy: a single-centre comparison of 147 parathyroid reoperations.

INTRODUCTION: Reoperative parathyroidectomy for persistent and recurrent primary hyperparathyroidism is dependent on radiology. This study aimed to compare outcomes in reoperative parathyroidectomy at a single centre using a combination of traditional and newer imaging studies. MATERIALS AND METHODS: Retrospective case note review of all reoperative parathyroidectomies for persistent and recurrent primary hyperparathyroidism over five years (June 2014 to June 2019; group A). Imaging modalities used and their positive predictive value, complications and cure rates were compared with a published dataset spanning the preceding nine years (group B). RESULTS: From over 2000 parathyroidectomies, 147 were reoperations (101 in group A and 46 in group B). Age and sex ratios were similar (56 vs 62 years; 77% vs 72% female). Ultrasound use remains high and shows better positive predictive value (76% vs 57 %). 99mTc-sestamibi use has declined (79% vs 91%) but the positive predictive value has improved (74% vs 53%). 4DCT use has almost doubled (61% vs 37%) with better positive predictive value (88% vs 75%). 18F-fluorocholine positron emission tomography-computed tomography and ultrasound-guided fine-needle aspiration for parathyroid hormone are novel modalities only available for group A. Both carried a positive predictive value of 100%. Venous sampling with or without angiography use has decreased (35% vs 39%) but maintains a high positive predictive value (86% vs 91%). Cure rates were similar (96% vs 100%). Group A had 5% permanent hypoparathyroidism, 1% permanent vocal cord palsy and 1% haematoma requiring reoperation. No complications for group B. CONCLUSION: Optimal imaging is key to good cure rates in reoperative parathyroidectomy. High-quality, non-interventional imaging techniques have produced a shift in the preoperative algorithm without compromising outcomes.

Parathyroid hemangioma

Background Hemangiomas are benign neoplasms of capillary proliferation that arise from a developmental anomaly where angioblastic mesenchyme fails to form canals. Most hemangiomas arise in the head and neck region, either superficially in the skin or deeper within endocrine organs such as the parotid gland. Parathyroid hemangiomas, however, are extremely rare, with only five cases previously reported in the literature. Case presentation Herein, we present a case of a 68-year-old man with a hemangioma almost completely replacing the right upper parathyroid gland, grossly measuring 1.3 × 1.3 × 1.2 cm and weighing 700 mg, associated with primary hyperparathyroidism. Conclusions Parathyroid gland enlargement due to vascular neoplasms such as hemangiomas can mimic, both clinically and radiographically, hyperplasias and/or adenomas. Surgeons need to be aware of the presence of this entity and should consider it in the differential diagnosis of hyperparathyroidism or parathyroid gland enlargement.

The prevalence and natural history of normocalcaemic hypoparathyroidism in a United Kingdom referral population.

CONTEXT: Normocalcaemic hypoparathyroidism (NHYPO) is characterized by low levels of parathyroid hormone (PTH) with normal levels of calcium. There is little in the current literature on this disease, with only two studies published on its prevalence, while its natural history remains relatively unknown. OBJECTIVES: To identify the prevalence of NHYPO in a UK referral population and to study the natural history of the disorder. DESIGN: Retrospective study. Five-year follow-up. PATIENTS: 6280 patients referred for a BMD measurement in a Metabolic Bone referral centre. MEASUREMENTS: Prevalence of NHYPO and variability of calcium. RESULTS: Based on laboratory results on the index day, 22 patients with NHYPO were identified. Four patients were excluded due to non-PTH-induced hypocalcaemia and unconfirmed data. The final prevalence was 0.29%. Only 67% had persistent normocalcaemia, and the rest had intermittent hypocalcaemia. Two of these patients also had persistently low PTH on two occasions. Most of the patients had one PTH measurement available. No patient developed permanent hypoparathyroidism. CONCLUSIONS: The prevalence calculated from this UK referral population is lower when compared to results from previous studies. NHYPO patients often have episodes of hypocalcaemia with some cases having no apparent reason for calcium levels below the reference range.

Biochemical bone turnover markers in hormonal disorders in adults: a narrative review.

BACKGROUND: Hormonal disorders are often associated with abnormal levels of bone turnover markers (BTMs). N-terminal propeptide of type I procollagen (PINP) and serum C-terminal cross-linking telopeptide of type I collagen (CTX-I) are the reference markers of bone formation and bone resorption, respectively. METHODS: A comprehensive literature search within the MEDLINE and Web of Science databases was performed. RESULTS: Acromegaly is associated with higher BTM levels, which decrease during the remission after treatment. Adult-onset growth hormone deficiency is often associated with decreased BTM levels. Growth hormone replacement therapy stimulates bone turnover and increases BTM levels. Hypothyroidism is characterized by general slowing of bone metabolism which is reflected by lower BTM levels. The replacement thyroid hormone therapy increases the bone turnover rate and BTM levels increase. Patients with thyroid cancer receive a suppressive dose of thyroid hormones and may have slightly elevated BTM levels. Patients with overt hyperthyroidism had higher BTM levels and anti-thyroid therapy induces a rapid decrease in the BTM levels. Patients with overt primary hyperparathyroidism have higher BTM levels, whereas those with asymptomatic and normocalcemic hyperparathyroidism usually have normal BTM levels. Hypoparathyroidism is characterized by slightly decreased BTM levels. Cushing's syndrome is characterized consistently by markedly decreased osteocalcin concentration, whereas data on other BTMs are discordant. CONCLUSIONS: BTMs help us to better understand mechanisms of the impact of hormonal disorders and their treatment on bone metabolism. However, it is unknown whether BTMs may be used to monitor the effect of their treatments on bone in the clinical practice.

Phenotypes of a family with XLH with a novel PHEX mutation.

X-linked hypophosphatemia (XLH) is the most common form of heritable hypophosphatemic rickets. We encountered a 4-year-old boy with a novel variant in the phosphate-regulating neutral endopeptidase homolog X-linked (PHEX) gene who presented with a short stature, genu valgum, and scaphocephaly. The same mutation was identified in his mother and sister; however, the patient presented with a more severe case.

[Ectopic hyperparathyroidism. Detection of mediastinal localization]. / Hiperparatiroidismo ectópico. Detección de la localización mediastinal.

The ectopic parathyroid tissue is a frequent cause of recurrent hyperparathyroidism (HPT), accounting 16% in primary HPT and 14% in secondary cases. Although intrathoracic ectopic glands represent 25-35% of all ectopic cases, only 2% requires thoracic surgery. The aim of this study is to report a case series of patients with ectopic mediastinal HPT treated by thoracic approach in a private institution in Argentina. This is a retrospective analysis from January 2006 to June 2019. All patients diagnosed with ectopic hyperparathyroidism who required a thoracic surgical approach were included. During this period, 728 patients with primary HPT and secondary HPT were treated. Six with primary HPT and 3 with secondary HPT required a thoracic approach. Six video-assisted thoracoscopy surgeries (VATS) and 3 sternotomies were performed. None of them presented serious posoperative complications. Frozen section biopsy was used in all cases. iPTH was measured in 8 cases, with a mean drop of 65% after 15 minutes. Final pathology reports confirmed 5 adenomas and 4 hyperplasias. Our case series reported an incidence of 1.65% (12/728) mediastinal parathyroids, while 1.24% (9/728) received surgical treatment at our institution. Intraoperative frozen section and PTHi are useful to confirm the diagnosis and to avoid recurrences. Although VATS is a safe and efficient treatment option, it depends on surgical training and availability. In terms of diagnostic imaging resources, sestamibi remains the current gold standard. However, 18F-choline PET/CT may arise as a new diagnostic tool. The possibility of obtaining evidence-based conclusions requires studies with higher number of patients.

El tejido paratiroideo ectópico es una causa frecuente de recurrencia del hiperparatiroidismo (HPT) siendo de 16% en primarios y 14% en secundarios. La localización intratorácica representa el 20-35%, pero solo un 2% requiere una cirugía torácica. El objetivo fue analizar una cohorte de pacientes con diagnóstico de HPT mediastinal operados en un hospital de alta complejidad de Argentina. Se realizó un estudio retrospectivo de todos los operados por HPT entre enero de 2006 y julio 2019 en ese hospital. Se incluyeron aquellos que requirieron acceso torácico por HPT ectópico. En este período se trataron 728 pacientes con HPT primario y secundario. Seis con primario y 3 con secundario requirieron cirugía torácica. Se realizaron 6 videotoracoscopias (VATS) y 3 esternotomías, sin complicaciones graves. Se utilizó biopsia por congelación en todos y dosaje de paratohormona intraoperatoria (PTHi) en 8 casos, que descendió en promedio 65% respecto al valor basal. Se confirmaron 5 adenomas y 4 hiperplasias. La enfermedad paratiroi dea mediastinal representó el 1.65% (12/728), mientras que recibieron tratamiento quirúrgico en nuestra institución 1.24% (9/728). La biopsia por congelación y el descenso de PTHi resultan útiles para confirmar el foco y eventualmente disminuir el riesgo de recurrencia. La VATS es segura pero depende del entrenamiento y de la disponibilidad en el medio asistencial. Si bien el sestamibi es el método con mayor sensibilidad, se propone el uso de 18F-colina PET/TC ante la sospecha de HPT ectópico. La posibilidad de obtener conclusiones basadas en la evidencia requiere de estudios con mayor número de pacientes.

Hiperparatiroidismo ectópico: Detección de la localización mediastinal / Ectopic hyperparathyroidism. Detection of mediastinal localization

El tejido paratiroideo ectópico es una causa frecuente de recurrencia del hiperparatiroidismo (HPT) siendo de 16% en primarios y 14% en secundarios. La localización intratorácica representa el 20-35%, pero solo un 2% requiere una cirugía torácica. El objetivo fue analizar una cohorte de pacientes con diagnóstico de HPT mediastinal operados en un hospital de alta complejidad de Argentina. Se realizó un estudio retrospectivo de todos los operados por HPT entre enero de 2006 y julio 2019 en ese hospital. Se incluyeron aquellos que requirieron acceso torácico por HPT ectópico. En este período se trataron 728 pacientes con HPT primario y secundario. Seis con primario y 3 con secundario requirieron cirugía torácica. Se realizaron 6 videotoracoscopias (VATS) y 3 esternotomías, sin complicaciones graves. Se utilizó biopsia por congelación en todos y dosaje de paratohormona intraoperatoria (PTHi) en 8 casos, que descendió en promedio 65% respecto al valor basal. Se confirmaron 5 adenomas y 4 hiperplasias. La enfermedad paratiroi dea mediastinal representó el 1.65% (12/728), mientras que recibieron tratamiento quirúrgico en nuestra institución 1.24% (9/728). La biopsia por congelación y el descenso de PTHi resultan útiles para confirmar el foco y eventualmente disminuir el riesgo de recurrencia. La VATS es segura pero depende del entrenamiento y de la disponibilidad en el medio asistencial. Si bien el sestamibi es el método con mayor sensibilidad, se propone el uso de 18F-colina PET/TC ante la sospecha de HPT ectópico. La posibilidad de obtener conclusiones basadas en la evidencia requiere de estudios con mayor número de pacientes.

The ectopic parathyroid tissue is a frequent cause of recurrent hyperparathyroidism (HPT), accounting 16% in primary HPT and 14% in secondary cases. Although intrathoracic ectopic glands represent 25-35% of all ectopic cases, only 2% requires thoracic surgery. The aim of this study is to report a case series of patients with ectopic mediastinal HPT treated by thoracic approach in a private institution in Argentina. This is a retrospective analysis from January 2006 to June 2019. All patients diagnosed with ectopic hyperparathyroidism who required a thoracic surgical approach were included. During this period, 728 patients with primary HPT and secondary HPT were treated. Six with primary HPT and 3 with secondary HPT required a thoracic approach. Six video-assisted thoracoscopy surgeries (VATS) and 3 sternotomies were performed. None of them presented serious posoperative complications. Frozen section biopsy was used in all cases. iPTH was measured in 8 cases, with a mean drop of 65% after 15 minutes. Final pathology reports confirmed 5 adenomas and 4 hyperplasias. Our case series reported an incidence of 1.65% (12/728) mediastinal parathyroids, while 1.24% (9/728) received surgical treatment at our institution. Intraoperative frozen section and PTHi are useful to confirm the diagnosis and to avoid recurrences. Although VATS is a safe and efficient treatment option, it depends on surgical training and availability. In terms of diagnostic imaging resources, sestamibi remains the current gold standard. However, 18F-choline PET/CT may arise as a new diagnostic tool. The possibility of obtaining evidence-based conclusions requires studies with higher number of patients.

A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation.

HDR syndrome (OMIM #146255) is caused by haploinsufficiency of the GATA3 gene. A vascular ring has not been reported in patients with GATA3-associated HDR syndrome. We report a neonatal case of HDR syndrome and a vascular ring that were possibly due to a novel frameshift mutation in the GATA3 gene.