DOCSLIB.ORG

Hyperparathyroidism Associated with Cushing's Syndrome Due to an Adrenal Cortical Adenoma

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Hyperparathyroidism Associated with Cushing's Syndrome Due to an Adrenal Cortical Adenoma Endocrinol . Japon. 1990, 37(2), 255-260 Hyperparathyroidism Associated with Cushing's Syndrome Due to an Adrenal Cortical Adenoma SHINJI SAWANO, YOSHIMASA SHISHIBA, TAEKO SHIMIZU, YASUNORI OZAWA, EIZO MIYATA, HIDEKI NAKAZAWA*, NORIYUKI SUZUKI* AND HIROSHI AKIYAMA* From Division of Endocrinology and Metabolism, and Division of Endocrine Surgery*, Toranomon Hospital; and Okinaka Memorial Institute for Medical Research, Tokyo 105, Japan Abstract Two patients with the rare association of Cushing's syndrome and primary hyperparathyroidism are reported. Initially, both patients suffered from Cushing's syndrome due to adrenal cortical adenomas with typical features and laboratory findings. Five years after treatment of the Cushing's syndrome by removal of the tumor, asymptomatic mild hypercalcemia was incidentally noticed in both patients, which suggested the occurrence of primary hyper- parathyroidism. An enlarged parathyroid gland was removed surgically in both cases and was histologically shown to be a parathyroid adenoma. The levels of serum calcium returned to normal after parathyroidectomy. Papillary adenocarcinoma of the thyroid in one patient and adenomatous goiter in the other were also incidentally detected at operation. These findings suggest that Cushing's syndrome resulting from an adrenal cortical adenoma may be another presentation of multiple endocrine neoplasia type I. Multiple endocrine neoplasia type I Griin, 1981; Boey et al., 1975). Such (MEN I) is characterized by benign tumors adenomas are usually non-functioning, and of the parathyroid and pituitary, and benign the occurrence of Cushing's syndrome re- or malignant tumors of the islet cells of sulting from an autonomous adrenocortical the pancreas (Ballard et al., 1964; Eberle tumor is extremely rare (Coughs et al., 1972; and Gran, 1981). The typical pathological Tajima et al., 1977 ; Igarashi et al., 1981). change in the parathyroid gland in MEN I We describe here two patients with Cushing's has been described as primary chief cell syndrome due to an adrenal cortical adenoma hyperplasaia. In addition to these, MEN I who also developed hyperparathyroidism is occasionally associated with adrenocortical resulting from a parathyroid adenoma. adenomas (Ballard et al., 1964; Eberle and Received December 19, 1989 Case Reports Mailing address for reprints: SHINJI SAWANO, MD. Division of Endocrinology and Metabolism, Case 1 Toranomon Hospital, 2-2-2 Minato-ku, Tokyo 105, Japan. A 42-year-old married woman was ad- Endocrinol. Japon. 256 SAWANO et al. April 1990 mitted to our hospital on September 30, graphy and abdominal angiography were 1971, with obesity, hypertension, and low performed, but no positive ndings were back pain. She had a history of a weight obtained. On October 29, 1971, the right gain of 15 kg and mild hypertension since adrenal gland was explored surgically. A the age of 40. There was no history to tumor measuring 3•~2.5•~2cm was found, suggest endocrine disease in any other and the pathological diagnosis was adrenal member of the family. On admission, her cortical adenoma. Substitution therapy with weight was 65 kg and her height was 160 hydrocortisone was initiated soon after the cm. The blood pressure was 150/90mmHg. operation. Postoperative levels of plasma Features compatible with Cushing's syndrome cortisol at 8 a.m., 11 a.m., 4 p.m. and 11 were present, including central obesity, buf- p.m. were 1.7, 1.7, 1.7 and 1.4ƒÊg/dl, res- falo hump, and moon-face. Purple striae pectively, indicating that the tumor had were seen all over the lower abdomen. No been removed completely. masses were palpable in the neck. The physical changes of Cushing's synd- Laboratory investigations gave the fol- rome gradually disappeared, and she was lowing results: serum sodium, 147mEq/l; discharged on 20mg of hydrocortisone daily potassium, 3.3mEq/l; chloride, 105mEq/l; on December 13, 1971. One year later, calcium, 9.4mg/dl (normal range, 8.1-10.0 both the basal urinary excretion of 17-OHCS mg/dl); and serum phosphate, 2.6mg/dl and the plasma cortisol level were normal, (normal range, 2.5-4.3mg/di). The fasting so the daily administration of hydrocortisone blood glucose level was 74 mg/dl; following was terminated in December, 1972. Since a 100g oral glucose load a diabetic type mild hypertension persisted, she was follow- response was seen. Skeletal X-ray lms ed up in the outpatient clinic. revealed a moderate degree of osteoporosis. In December 1976, a relatively high The plasma cortisol level was 25ƒÊg/dl at level of serum calcium (11.0 mg/dl) was 8 a.m., 29ƒÊg/di at 11 a.m., 28ƒÊg/dl at 4 incidentally noticed, with the serum phos- p.m. and 24ƒÊg/dl at 11 p.m.. Base line phorus level remaining normal (2.8mg/dl). urinary 17-hydroxycorticosteroid (OHCS) and Mild hypercalcemia ranging from 9.6-11.2 17-ketosteroid (KS) levels were 10.0-27.9 mg/dl persisted without any metabolic dis- mg/day and 7.5-12.0mg/day, respectively. turbance until 1988. The serum phosphorus The two-day 8 mg dexamethasone test (2mg ranged from 2.5-3.9 mg/dl during the same every 6 hours, total 8 doses) showed no period. The plasma PTH level was 3.6-3.7 suppression of urinary 17-OHCS levels (mean mIU/ml (C terminal assay, normal range: basal excretion for the 2 days was 12.6 1.6-4.4 mIU/ml) in January 1983, and in- mg/day and it was 14.5mg/day on day 2). creased to 0.70ng/ml (mid-portion assay, After the administration of metyrapone (750 normal range: 0.18-0.56ng/ml) in February mg every 6 hours, total 4 doses), the maxi- 1987. An ultrasonic echogram of the neck mum urinary excretion of 17-OHCS was performed on December 21, 1987, revealed 19.2mg/day compared with a mean basal a hypoechoic mass lesion with a diameter excretion of 26.8mg/day over 2 days. of 6•~3mm in the region of the mid-portion Elevated levels of plasma cortisol with of the right thyroid lobe, suggesting the a loss of the diurnal rhythm and the absence presence of an enlarged parathyroid gland. of any response to dexamethasone or mety- She was readmitted on May 13, 1988, for rapone made it highly likely that the parathyroid surgery. Cushing's syndrome was due to an adrenal Laboratory data on admission are shown tumor. To explore the adrenals, retroperi- in Table 1. The serum Ca, plasma PTH, toneal pneumography, intravenous pyelo- and nephrogenous cAMP levels were high. Vol. 37, No. 2 CUSHING'S SYNDROME AND HYPERPARATHYROIDISM 257 Table 1. Laboratory data of Case 1 when and computed tomography (CT) failed to admitted for operation for primary visualize the mass, but demonstrated another hyperparathyroidism small lesion in the lower region of the left lobe of the thyroid. On June 8, the neck was surgically explored, and an enlarged right upper parathyroid gland weighing 205 mg was removed, which coincided with the mass revealed by ultrasound. The other three parathyroid glands were normal. Pathological examination showed that the lesion was a chief cell adenoma. The mass lesion which had been found by MRI and CT scan was histologically an enlarged lymph node with the characteristics of metastatic papillary adenocacinoma of the thyroid. After surgery, the serum calcium level decreased to 8.0mg/dl. On June 15, 1988, when the patient was discharged, the levels of serum calcium and phosphorus were 8.6 mg/dl and 3.6mg/dl, respectively. Plasma parathyroid hormone was 0.43ng/ml. She required neither calcium nor vitamin D preparations, but was given a daily dose of 50ƒÊg of thyroxin for preoperative treat- ment of papillary adenocarcinoma of the thyroid. Case 2 This 40-year-old married woman was admitted to our hospital on August 4, 1970, because of edema of the lower extremities. She had a history of hypertension for two years, and had gained 3kg in weight. There was no family history of endocrine disease. PTH-M: mid-portion assay of parathyroid hor- mone; ACTH: adreno-corticotropic hormone; On admission her weight was 60 kg and T4: thyroxine; T3: triiodothyronine; TSH: her height was 156cm. The blood pressure thyroid stimulating-hormone. Normal ranges in was 180/110mmHg. She had the charac- parenthesis. teristic facial appearance and fat distribution of Cushing's syndrome. There was 2+ pit- ting edema on the legs. No masses were The other findings were within the normal palpable in the neck. range, indicating that no other endocrine Laboratory investigations revealed the glands were involved. Repeated ultrasound following: serum sodium, 142mEq/l; potas- of the neck revealed the same hypoechoic sium, 3.5mEq/l; chloride, 102mEq/l; mass as detected in December 1987. How- calcium, 9.8mg/ dl; and phosphorus, 3.1 ever, magnetic resonance imaging (MRI) mg/dl. The fasting blood glucose level was Erdocrinol. Japon. 258 SAWANO et al. April 1990 96mg/dl, and after a 100g oral glucose roid gland measuring 0.7•~1.0 cm was re- load a diabetic type response was seen. The moved. Histological examination revealed plasma cortisol level was 13ƒÊg/dl at 8 a.m., a chief cell adenoma. The remaining 3 14ƒÊ/dl at 11 a.m., 13ƒÊg/dl at 4 p.m. and glands were not enlarged. A biopsy taken 12ƒÊg/dl at 11 p.m., indicating loss of the from one of the thyroid nodules at surgery diurnal rhythm. Base line values for urinary showed histologically the characteristics of 17-OHCS and 17-KS were 11.4-32.8mg/day adenomatous goiter. Postoperatively, the and 3.9-4.6mg/day, respectively. The 2-day serum calcium and phosphorus levels re- 8 mg dexamethasone test showed no sup- turned to normal and she was discharged pression of urinary 17-OHCS (mean basal on December 30, 1975.
Load more

Recommended publications
  • Synchronous Primary Hyperparathyroidism and Papillary Thyroid Carcinoma in a 50-Year-Old Female, Who Initially Presented with Uncontrolled Hypertension
    Open Access http://www.jparathyroid.com Journal of Journal of Parathyroid Disease 2014,2(2),69–70 Epidemiology and Prevention Synchronous primary hyperparathyroidism and papillary thyroid carcinoma in a 50-year-old female, who initially presented with uncontrolled hypertension Seyed Seifollah Beladi Mousavi1, Hamid Nasri2*, Saeed Behradmanesh3 hough, the association between parathyroid and Implication for health policy/practice/research/ thyroid diseases is not uncommon, however medical education concurrent presence of parathyroid adenoma An association between parathyroid adenoma Tand thyroid cancer is rare (1,2). The association between and thyroid cancer is rare. Awareness of this concurrent thyroid and parathyroid disease was firstly situation will enable clinicians to consider for explained by Kissin et al. in 1947 (2). Awareness of possible thyroid pathology in patients with primary this situation will enable clinicians to consider for hyperparathyroidism. Both of these endocrine diseases possible thyroid pathology in patients with primary could then be managed with a single surgery involving hyperparathyroidism. While thyroid follicular cells and concomitant resection of the thyroid and involved parathyroid cells are embryologically different. It is evident parathyroid glands. that presence of parathyroid adenoma leading to primary hyperparathyroidism and coexistent of thyroid papillary cancer is rare. Both of these endocrine diseases could then coincidence of papillary thyroid carcinoma. After surgery, be managed with a single surgery involving concomitant serum parathormone and calcium returned to their normal resection of the thyroid and involved parathyroid glands. values and patient was referred to an endocrinologist for A 50-year-old female, referred to the nephrology clinic for continuing the treatment of papillary carcinoma.
    [Show full text]
  • Parathyroid Carcinoma Presenting As an Acute Pancreatitis
    International Journal of Radiology & Radiation Therapy Case Report Open Access Parathyroid carcinoma presenting as an acute pancreatitis Abstract Volume 3 Issue 3 - 2017 Parathyroid carcinoma is the cause of only 1% of hyperparathyroidism cases. The Enrique Cadena,1,2,3 Alfredo Romero-Rojas1,3 incidence of acute pancreatitis in patients with hyperparathyroidism was reported to 1Department of Head and Neck Surgery and Pathology, be only 1.5%. The occurrence of pancreatitis in patients with parathyroid carcinoma National Cancer Institute, Colombia is unusual, ranging from 0% to 15%. Here, we report a very rare case of parathyroid 2Department of Surgery, National University of Colombia, carcinoma presenting as an acute pancreatitis in a 45years old woman, who was Colombia suspected for hypercalcemia and higher levels of intact parathyroid hormone. The 3Department of Head and Neck Surgery and Pathology, Marly parathyroid carcinoma was verified with ultrasound, CT Scan, and single-photon Clinic, Colombia emission computed tomography. The pathological anatomy report showed a minimally invasive parathyroid carcinoma. Following surgery, the patient was free after almost Correspondence: Enrique Cadena, Department of Head and a 4years follow up. Neck Surgery and Pathology, National Cancer Institute, Bogotá, 1st Street # 9-85, Colombia, Tel 5713341111, 5713341478, Keywords: acute necrotizing pancreatitis, hypercalcemia, primary Email [email protected] hyperparathyroidism, parathyroid carcinoma Received: May 29, 2017 | Published: June 27, 2017 Abbreviations: HPT, hyperparathyroidism; PHPT, primary (2.5mg/dl) levels. Kidney and liver function tests, albumin and hyperparathyroidism; SPECT, single-photon emission computed to- triglyceride levels were all within normal limits. The patient was mography; CT, computed tomography; iPTH, intact parathyroid hor- treated initially with intravenous fluids and H2 blockers, and no oral mone.
    [Show full text]
  • Multiple Endocrine Neoplasia Type 1 (MEN1)
    Lab Management Guidelines v2.0.2019 Multiple Endocrine Neoplasia Type 1 (MEN1) MOL.TS.285.A v2.0.2019 Introduction Multiple Endocrine Neoplasia Type 1 (MEN1) is addressed by this guideline. Procedures addressed The inclusion of any procedure code in this table does not imply that the code is under management or requires prior authorization. Refer to the specific Health Plan's procedure code list for management requirements. Procedures addressed by this Procedure codes guideline MEN1 Known Familial Mutation Analysis 81403 MEN1 Deletion/Duplication Analysis 81404 MEN1 Full Gene Sequencing 81405 What is Multiple Endocrine Neoplasia Type 1 Definition Multiple Endocrine Neoplasia Type 1 (MEN1) is an inherited form of tumor predisposition characterized by multiple tumors of the endocrine system. Incidence or Prevalence MEN1 has a prevalence of 1/10,000 to 1/100,000 individuals.1 Symptoms The presenting symptom in 90% of individuals with MEN1 is primary hyperparathyroidism (PHPT). Parathyroid tumors cause overproduction of parathyroid hormone which leads to hypercalcemia. The average age of onset is 20-25 years. Parathyroid carcinomas are rare in individuals with MEN1.2,3,4 Pituitary tumors are seen in 30-40% of individuals and are the first clinical manifestation in 10% of familial cases and 25% of simplex cases. Tumors are typically solitary and there is no increased prevalence of pituitary carcinoma in individuals with MEN1.2,5 © eviCore healthcare. All Rights Reserved. 1 of 9 400 Buckwalter Place Boulevard, Bluffton, SC 29910 (800) 918-8924 www.eviCore.com Lab Management Guidelines v2.0.2019 Prolactinomas are the most commonly seen pituitary subtype and account for 60% of pituitary adenomas.
    [Show full text]
  • Multiple Endocrine Neoplasia Type 2: an Overview Jessica Moline, MS1, and Charis Eng, MD, Phd1,2,3,4
    GENETEST REVIEW Genetics in Medicine Multiple endocrine neoplasia type 2: An overview Jessica Moline, MS1, and Charis Eng, MD, PhD1,2,3,4 TABLE OF CONTENTS Clinical Description of MEN 2 .......................................................................755 Surveillance...................................................................................................760 Multiple endocrine neoplasia type 2A (OMIM# 171400) ....................756 Medullary thyroid carcinoma ................................................................760 Familial medullary thyroid carcinoma (OMIM# 155240).....................756 Pheochromocytoma ................................................................................760 Multiple endocrine neoplasia type 2B (OMIM# 162300) ....................756 Parathyroid adenoma or hyperplasia ...................................................761 Diagnosis and testing......................................................................................756 Hypoparathyroidism................................................................................761 Clinical diagnosis: MEN 2A........................................................................756 Agents/circumstances to avoid .................................................................761 Clinical diagnosis: FMTC ............................................................................756 Testing of relatives at risk...........................................................................761 Clinical diagnosis: MEN 2B ........................................................................756
    [Show full text]
  • Carotid Body Tumor Associated with Primary Hyperparathyroidism
    DOI: 10.30928/2527-2039e-20212755 _______________________________________________________________________________________Relato de caso CAROTID BODY TUMOR ASSOCIATED WITH PRIMARY HYPERPARATHYROIDISM TUMOR DO CORPO CAROTÍDEO ASSOCIADO COM HIPERPARATIREOIDISMO PRIMÁRIO Duilio Antonio Palacios1; Ledo Massoni1; Climério Pereira do Nascimento1; Marilia D'Elboux Brescia, TCBC-SP1; Sérgio Samir Arap, TCBC-SP1; Fabio Luiz de Menezes Montenegro, TCBC-SP1. ABSTRACT Introduction: Carotid body tumors (CBT) are an uncommon tumor of head and neck. The associa- tion between this entity with primary hyperparathyroidism (PHPT) is even rarer and few cases have been reported. Case Report: We described two cases of association between CBT and PHPT. The first case was a 55-year-old male patient with Shambling type III malignant paraganglioma and PHPT sin- gle adenoma. The second one was a 56-year-old male patient with Shambling type III paraganglioma and double parathyroid adenoma. Conclusion: The adequate preoperative evaluation allowed to iden- tify and treat simultaneously both neoplasms in these patients without compromising the appropriate treatment. Treatment of the two neoplasms when identified could be performed satisfactorily at the same surgical time. Keywords: Carotid Body Tumor. Hyperparathyroidism. Hypercalcemia. Treatment Outcome. RESUMO Introdução: O paraganglioma de corpo carotídeo (PCC) é um dos tumores menos frequente da cabeça e do pescoço. A associação entre essa entidade e o hiperparatireoidismo primário (HPT) é ainda mais rara e poucos casos foram relatados. Relato do Caso: Relatam-se dois novos casos de PCC e HPT. O primeiro é um paciente de 55 anos com um paraganglioma maligno que envolvia as artérias carótidas interna e externa (Shambling III) e um adenoma de paratireoide. O segundo trata-se de paciente mas- culino de 56 anos, também com tumor Shambling III, mas com duplo adenoma de paratireoide.
    [Show full text]
  • Coexistent Papillary Thyroid Carcinoma Diagnosed in Surgically Treated
    Preda et al. BMC Surgery (2019) 19:94 https://doi.org/10.1186/s12893-019-0556-y RESEARCHARTICLE Open Access Coexistent papillary thyroid carcinoma diagnosed in surgically treated patients for primary versus secondary hyperparathyroidism: same incidence, different characteristics Cristina Preda1, Dumitru Branisteanu1* , Ioana Armasu6, Radu Danila2, Cristian Velicescu2, Delia Ciobanu3, Adrian Covic4,5 and Alexandru Grigorovici2 Abstract Background: The coexistence of hyperparathyroidism and thyroid cancer presents important diagnostic and management challenges. With minimally invasive parathyroid surgery trending, preoperative thyroid imaging becomes more important as concomitant thyroid and parathyroid lesions are reported. The aim of the study was to evaluate the rate of thyroid cancer in patients operated for either primary (PHPT) or secondary hyperparathyroidism (SHPT). Methods: Our retrospective study included PHPT and SHPT patients submitted to parathyroidectomy and, when indicated, concomitant thyroid surgery between 2010 and 2017. Results: Parathyroidectomy was performed in 217 patients: 140 (64.5%) for PHPT and 77 (35.5%) for SHPT. Concomitant thyroid surgery was performed in 75 patients with PHPT (53.6%), and 19 papillary thyroid carcinomas (PTC) were found, accounting for 13.6% from all cases with PHPT and 25.3% from PHPT cases with concomitant thyroid surgery. Thirty- one of operated SHPT patients (40.3%) also underwent thyroid surgery and 9 PTC cases were diagnosed (11.7% of all SHPT patients and 29% of patients with concomitant thyroid surgery). We found differences between PHPT and SHPT patients (p < 0.001) with respect to age (54.6 ± 13y versus 48.8 ± 12y), female-to-male ratio (8:1 versus ~ 1:1), surgical technique (single gland parathyroidectomy in 82.8% PHPT cases; versus subtotal parathyroidectomy in 85.7% SHPT cases) and presurgical PTH (357.51 ± 38.11 pg/ml versus 1020 ± 161.38 pg/ml).
    [Show full text]
  • Genetic Characterization of Large Parathyroid Adenomas
    Endocrine-Related Cancer (2012) 19 389–407 Genetic characterization of large parathyroid adenomas Luqman Sulaiman1,2, Inga-Lena Nilsson3, C Christofer Juhlin1,2,4, Felix Haglund1,2, Anders Ho¨o¨g4, Catharina Larsson1,2 and Jamileh Hashemi1,2 1Medical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden 2Center for Molecular Medicine, Karolinska University Hospital, L8:01, SE-171 76 Stockholm, Sweden 3Endocrine Surgery Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital P9:03, SE-171 76 Stockholm, Sweden 4Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital P1:02, SE-171 76 Stockholm, Sweden (Correspondence should be addressed to C Larsson at Medical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital CMM L8:01; Email: [email protected]) Abstract In this study, we genetically characterized parathyroid adenomas with large glandular weights, for which independent observations suggest pronounced clinical manifestations. Large parathyroid adenomas (LPTAs) were defined as the 5% largest sporadic parathyroid adenomas identified among the 590 cases operated in our institution during 2005–2009. The LPTA group showed a higher relative number of male cases and significantly higher levels of total plasma and ionized serum calcium (P!0.001). Further analysis of 21 LPTAs revealed low MIB1 proliferation index (0.1–1.5%), MEN1 mutations in five cases, and one HRPT2 (CDC73) mutation. Total or partial loss of parafibromin expression was observed in ten tumors, two of which also showed loss of APC expression.
    [Show full text]
  • Multiple Endocrine Neoplasia Type 1 (MEN1)
    Page 1 of 2 Multiple Endocrine Neoplasia Type 1 (MEN1) MEN1 is an autosomal dominant syndrome caused by germline mutations in the MEN1 gene. Endocrine tumours come to attention because of the overproduction of hormones and/or tumour growth. A clinical MEN1 diagnosis requires the diagnosis of 2 endocrine tumours in the parathyroid, pituitary and/or gastro-entero-pancreatic (GEP) tract. MEN1 is also associated with a number of other endocrine (e.g. carcinoid, adrenocortical) and non-endocrine tumours (e.g. facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas, leiomyomas) in some families. MEN2 is a separate syndrome with medullary thyroid cancer and pheochromocytoma as key features. Referral Criteria Note: close relatives include: children, brothers, sisters, parents, aunts, uncles, grandchildren & grandparents on the same side of the family . History of cancer in cousins and more distant relatives from the same side of the family may also be relevant. • family member with a confirmed MEN1 g ene mutation – refer for carrier testing • a person with 2 or more of the 3 key MEN 1-associated tumours: o parathyroid tumour or hyperplasia (primary hyperparathyroidism) o pituitary adenoma (prolactinoma is the most common) o well-differentiated gastro-entero-pancreatic neuroendocrine tumour (e.g. gastrinoma, insulinoma, glucagonoma, pancreatic islet tumour, VIPoma) • a person with gastro-entero-pancreatic NET (neuroendocrine tumour) before age 40 • a person with parathyroid tumour or hyperplasia before age 40 • a person with primary hyperparathyroidism and a close relative with the same diagnosis • a person with features described above and close relative(s) with related tumours • a person with a close relative with features described above • a person with additional endocrine and non-endocrine features associated with MEN1 may be referred for assessment Referral of children is appropriate for this syndrome because it may inform their medical management.
    [Show full text]
  • Regression of Orbital Brown Tumor After Surgical Removal of Parathyroid
    case report Regression of orbital brown tumor after surgical removal of parathyroid adenoma Felipe Martins de Oliveira1, Tiago Eidy Makimoto1, Nilza Maria Scalissi1, Marília Martins Silveira Marone1, Sergio Setsuo Maeda1 SUMMARY Brown tumors are rare skeletal manifestations that occur in less than 2% of primary hyperparathyroi- 1 Irmandade da Santa Casa dism (PHPT) cases. Even rarer is the occurrence of brown tumor of the orbit, and few cases have been de Misericórdia de São Paulo reported around the world. The rare instance of this benign tumor has prompted us to report the case (ISCMSP), Departamento de Medicina, Disciplina de and treatment of an orbital brown tumor in a patient with PHPT caused by parathyroid adenoma. We Endocrinologia e Metabologia, present the case of a patient undergoing follow-up at a referral center. The 60-year-old female patient, São Paulo, SP, Brazil presented herself with progressive swelling in the nasal region, epistaxis and proptosis, she had noticed seven months prior to our examination. Multiple imaging and laboratory findings revealed Correspondence to: Felipe Martins de Oliveira parathyroid hormone (PTH)-dependent hypercalcemia (total calcium = 14.3 mg/dL and PTH = 1,573 Rua Professora Maria José Ferreira, 166 pg/mL), a nodular lesion in the upper pole of the left thyroid lobe and increased uptake in left upper 19910-075 – Ourinhos, SP, Brazil cervical region. The patient underwent left superior parathyroidectomy in September 2011, which [email protected] [email protected] led to the normalization of hypercalcemia and regression of the orbital tumor, as seen on control CT scan. This case highlights the spontaneous regression of the brown tumor after surgical management Received on July/1/2014 of the parathyroid adenoma.
    [Show full text]
  • Genetic Characterization of Large Parathyroid Adenomas
    CORE Metadata, citation and similar papers at core.ac.uk Provided by PubMed Central Endocrine-Related Cancer (2012) 19 389–407 Genetic characterization of large parathyroid adenomas Luqman Sulaiman1,2, Inga-Lena Nilsson3, C Christofer Juhlin1,2,4, Felix Haglund1,2, Anders Ho¨o¨g4, Catharina Larsson1,2 and Jamileh Hashemi1,2 1Medical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital CMM L8:01, SE-171 76 Stockholm, Sweden 2Center for Molecular Medicine, Karolinska University Hospital, L8:01, SE-171 76 Stockholm, Sweden 3Endocrine Surgery Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital P9:03, SE-171 76 Stockholm, Sweden 4Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital P1:02, SE-171 76 Stockholm, Sweden (Correspondence should be addressed to C Larsson at Medical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital CMM L8:01; Email: [email protected]) Abstract In this study, we genetically characterized parathyroid adenomas with large glandular weights, for which independent observations suggest pronounced clinical manifestations. Large parathyroid adenomas (LPTAs) were defined as the 5% largest sporadic parathyroid adenomas identified among the 590 cases operated in our institution during 2005–2009. The LPTA group showed a higher relative number of male cases and significantly higher levels of total plasma and ionized serum calcium (P!0.001). Further analysis of 21 LPTAs revealed low MIB1 proliferation index (0.1–1.5%), MEN1 mutations in five cases, and one HRPT2 (CDC73) mutation. Total or partial loss of parafibromin expression was observed in ten tumors, two of which also showed loss of APC expression.
    [Show full text]
  • Table of Contents
    CONTENTS 1. Normal Thyroid Gland .................................................................................................... 1 Embryology .................................................................................................................. 1 Anatomy ...................................................................................................................... 3 Histology ...................................................................................................................... 4 The Follicular Cell ........................................................................................................ 8 Thyroid Hormones ................................................................................................... 10 The C-Cell .................................................................................................................... 11 Calcitonin and Calcitonin Gene-Related Peptide .................................................... 14 Solid Cell Nests ............................................................................................................ 15 2. Genes Involved in Thyroid Tumorigenesis ..................................................................... 23 TSH Receptor/cAMP Pathway ...................................................................................... 25 MAPK Pathway ............................................................................................................ 31 Tyrosine Kinase Receptors (RET, NTK1, MET) .........................................................
    [Show full text]
  • Neuroblastoma and Pheochromocytoma ALFRED G
    Amer J Hum Genet 24:514-532, 1972 Mutation and Cancer: Neuroblastoma and Pheochromocytoma ALFRED G. KNUDSON, JR.1 2 and LouISE C. STRONG' 3 A recent study of retinoblastoma [1] led to the conclusion that the occurrence of that tumor fits a two-mutation model. According to that model a fraction, fn, of all cases is nonhereditary and results from two somatic mutational events in one cell which is thereby transformed into a tumor cell, which, in turn, becomes a solitary primary tumor. The remaining fraction of cases, f7,, is hereditary and arises in indi- viduals who are predisposed to the tumor because they have inherited one of the mutational events, the second event occurring in one or more somatic cells; such individuals may develop one tumor, more than one, or none at all. These predisposed individuals most frequently acquire the first event as a fresh dominant mutation which has arisen in a parental germinal cell. They may present a family history of the tumor, they develop tumors earlier than do nonhereditary cases, and they may develop multiple tumors. In this report, we present an analysis of familial incidence, multiplicity, and age at diagnosis for two sympathetic-nervous-system tumors, neuroblastoma and pheochromocytoma, which reveals that these tumors also fit the two-mutation model. ANALYSIS OF DATA Neuroblastoma A starting point for the study was a review of the 60 cases of neuroblastoma seen at M. D. Anderson Hospital and Tumor Institute (MDAH) during the period 1944-1970. Two familial cases and three multiple primary cases were observed. These data were too few for analysis, so a literature review of the accumulated experience was undertaken.
    [Show full text]