Wafa Abdallah Fadle, Ali Al Reesi, Saud Al-Shabibi, Maryam Khamis Al-Badi
Pituitary hyperplasia secondary to primary hypothyroidism (PHPH) is uncommon in children and is reversible with thyroxine therapy. We report an Omani girl who presented at the age of 13 years and 6 months with profound primary hypothyroidism due to Hashimoto's thyroiditis and secondary pituitary hyperplasia and hyperprolactinemia. Pituitary magnetic resonance imaging confirmed the presence of pituitary hyperplasia which regressed during follow-up after the administration of thyroxine therapy. The diagnosis of PHPH is very important in both children and adults in order to avoid unnecessary brain surgery or medical treatment for a presumed pituitary mass or adenoma. To our knowledge, this patient represents the first case of an Omani child presenting with PHPH.
{"title":"Primary Hypothyroidism with Pituitary Hyperplasia in an Omani Girl","authors":"Wafa Abdallah Fadle, Ali Al Reesi, Saud Al-Shabibi, Maryam Khamis Al-Badi","doi":"10.1155/2022/3382612","DOIUrl":"https://doi.org/10.1155/2022/3382612","url":null,"abstract":"Pituitary hyperplasia secondary to primary hypothyroidism (PHPH) is uncommon in children and is reversible with thyroxine therapy. We report an Omani girl who presented at the age of 13 years and 6 months with profound primary hypothyroidism due to Hashimoto's thyroiditis and secondary pituitary hyperplasia and hyperprolactinemia. Pituitary magnetic resonance imaging confirmed the presence of pituitary hyperplasia which regressed during follow-up after the administration of thyroxine therapy. The diagnosis of PHPH is very important in both children and adults in order to avoid unnecessary brain surgery or medical treatment for a presumed pituitary mass or adenoma. To our knowledge, this patient represents the first case of an Omani child presenting with PHPH.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"46 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87718529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Central diabetes insipidus (CDI) is an uncommon complication of acute myeloid leukemia (AML). Patients present with polyuria either preceding or at the time of diagnosis of AML. We describe the case of a 36-year-old male who presented with a subacute onset of polyuria, polydipsia, nocturia, and fatigue. After an extensive workup, he was diagnosed with AML/CMML (chronic myelomonocytic leukemia) with a normal karyotype with DNMT3A, CBFB, and PTPN11 mutations. Further workup of the polyuria with a water deprivation test helped confirm the diagnosis of CDI along with MRI findings suggestive of hypophysitis. In this report, we analyze the clinical workup for AML and CDI and report the possibility of extramedullary leukemic infiltration associated with DNMT3A mutation, which has been reported as one of the mechanisms in the existing literature. We also discuss other theories hypothesized to cause CDI in AML patients with abnormal karyotypes. Our patient progressed to AML from CMML-2 after a cycle of decitabine, with confirmed gingival and presumed central nervous system (CNS) involvement. He is in minimal residual disease (MRD)-negative complete remission after induction with a CNS-active acute lymphoblastic leukemia-2 regimen. He also received double umbilical cord blood transplantation, conditioned with cyclophosphamide, fludarabine, thiotepa, and total body irradiation (TBI) of 4 Gy. This was complicated by engraftment syndrome for which he is currently being managed. CDI of the patient was corrected by desmopressin administration.
{"title":"Central Diabetes Insipidus Induced by Acute Myeloid Leukemia with DNMT3A Mutation","authors":"P. Lakshmanan, Heena Asnani, David Knorr","doi":"10.1155/2022/2750146","DOIUrl":"https://doi.org/10.1155/2022/2750146","url":null,"abstract":"Central diabetes insipidus (CDI) is an uncommon complication of acute myeloid leukemia (AML). Patients present with polyuria either preceding or at the time of diagnosis of AML. We describe the case of a 36-year-old male who presented with a subacute onset of polyuria, polydipsia, nocturia, and fatigue. After an extensive workup, he was diagnosed with AML/CMML (chronic myelomonocytic leukemia) with a normal karyotype with DNMT3A, CBFB, and PTPN11 mutations. Further workup of the polyuria with a water deprivation test helped confirm the diagnosis of CDI along with MRI findings suggestive of hypophysitis. In this report, we analyze the clinical workup for AML and CDI and report the possibility of extramedullary leukemic infiltration associated with DNMT3A mutation, which has been reported as one of the mechanisms in the existing literature. We also discuss other theories hypothesized to cause CDI in AML patients with abnormal karyotypes. Our patient progressed to AML from CMML-2 after a cycle of decitabine, with confirmed gingival and presumed central nervous system (CNS) involvement. He is in minimal residual disease (MRD)-negative complete remission after induction with a CNS-active acute lymphoblastic leukemia-2 regimen. He also received double umbilical cord blood transplantation, conditioned with cyclophosphamide, fludarabine, thiotepa, and total body irradiation (TBI) of 4 Gy. This was complicated by engraftment syndrome for which he is currently being managed. CDI of the patient was corrected by desmopressin administration.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"13 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78498028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Prathamesh Chandrapattan, A. Jena, R. Patnayak, S. Mangaraj, Sujata Naik, Saroj Panda
Gonadoblastoma is a neoplasm containing an intimate mixture of germ cells and elements resembling immature granulosa or Sertoli cells. It has been considered as in situ germ cell malignancy that can be associated with malignant components. The tumor has been reported to almost exclusively develop in various types of gonadal gene mutation syndromes, such as in pure or mixed gonadal dysgenesis and among females carrying Y chromosome material. However, it can be rarely present in normal women with 46, XX karyotype. Ovarian gonadoblastoma presenting with signs of contrasexual puberty in a young female child with normal 46, XX karyotype is an extremely rare clinical entity and seldom reported in the literature. We report a case of a nine-year-old girl child who presented with signs of virilization and contrasexual pubertal development. A detailed clinical evaluation along with supportive biochemical and radiological findings pointed to the presence of a virilizing ovarian tumor. The patient underwent right salpingo-oophorectomy, pelvic node dissection, and infracolic omentectomy. The excised tumor was confirmed to be gonadoblastoma which was overgrown by dysgerminoma on histopathological evaluation. The presence of associated malignant tumors (like dysgerminoma) should always be ruled out in cases of gonadoblastoma.
{"title":"Gonadoblastoma with Dysgerminoma Presenting as Virilizing Disorder in a Young Child with 46, XX Karyotype: A Case Report and Review of the Literature","authors":"Prathamesh Chandrapattan, A. Jena, R. Patnayak, S. Mangaraj, Sujata Naik, Saroj Panda","doi":"10.1155/2022/5666957","DOIUrl":"https://doi.org/10.1155/2022/5666957","url":null,"abstract":"Gonadoblastoma is a neoplasm containing an intimate mixture of germ cells and elements resembling immature granulosa or Sertoli cells. It has been considered as in situ germ cell malignancy that can be associated with malignant components. The tumor has been reported to almost exclusively develop in various types of gonadal gene mutation syndromes, such as in pure or mixed gonadal dysgenesis and among females carrying Y chromosome material. However, it can be rarely present in normal women with 46, XX karyotype. Ovarian gonadoblastoma presenting with signs of contrasexual puberty in a young female child with normal 46, XX karyotype is an extremely rare clinical entity and seldom reported in the literature. We report a case of a nine-year-old girl child who presented with signs of virilization and contrasexual pubertal development. A detailed clinical evaluation along with supportive biochemical and radiological findings pointed to the presence of a virilizing ovarian tumor. The patient underwent right salpingo-oophorectomy, pelvic node dissection, and infracolic omentectomy. The excised tumor was confirmed to be gonadoblastoma which was overgrown by dysgerminoma on histopathological evaluation. The presence of associated malignant tumors (like dysgerminoma) should always be ruled out in cases of gonadoblastoma.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"97 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75823128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Myxedema coma is a rare life-threatening presentation of severe hypothyroidism associated with a high mortality rate. Although most cases are due to primary thyroid failure, a minority have central hypothyroidism as the underlying cause. We report the case of a 69-year-old man who presented with obtundation, hypoglycemia, and hyponatremia. The patient's initial thyroid-stimulating hormone (TSH) was within normal limits. Subsequent evaluation revealed critical anterior pituitary insufficiency due to a macroprolactinoma and a diagnosis of myxedema coma after appropriate workup The finding of a normal serum TSH should not eliminate the possibility of myxedema coma.
{"title":"Myxedema Coma Associated with Macroprolactinoma: Case Report and Review of the Literature","authors":"Elizabeth Omoniyi, R. Robbins","doi":"10.1155/2022/1591616","DOIUrl":"https://doi.org/10.1155/2022/1591616","url":null,"abstract":"Myxedema coma is a rare life-threatening presentation of severe hypothyroidism associated with a high mortality rate. Although most cases are due to primary thyroid failure, a minority have central hypothyroidism as the underlying cause. We report the case of a 69-year-old man who presented with obtundation, hypoglycemia, and hyponatremia. The patient's initial thyroid-stimulating hormone (TSH) was within normal limits. Subsequent evaluation revealed critical anterior pituitary insufficiency due to a macroprolactinoma and a diagnosis of myxedema coma after appropriate workup The finding of a normal serum TSH should not eliminate the possibility of myxedema coma.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"263 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81709079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marina Delli Colli, B. N. Alamri, Laura Palma, J. Rivera
Glucagonomas are rare pancreatic neuroendocrine tumors (pNETs), malignant in 80% of cases, thus highlighting the importance of early diagnosis and treatment. Primary manifestations are diabetes, dermatosis, depression, weight loss, and deep vein thrombosis. Unlike other pNETs, glucagonomas are associated with a higher incidence of thromboembolic events, often resulting in death. We present the case of a glucagonoma patient whose primary manifestation was cerebral sinus venous thrombosis (CS-VT). Early diagnosis enabled curative resection. The purpose of this paper is to review the underlying mechanisms associated with increased coagulopathy in glucagonomas.
{"title":"A Glucagonoma Presenting as Cerebral Vein Thrombosis and Diabetes","authors":"Marina Delli Colli, B. N. Alamri, Laura Palma, J. Rivera","doi":"10.1155/2022/7659341","DOIUrl":"https://doi.org/10.1155/2022/7659341","url":null,"abstract":"Glucagonomas are rare pancreatic neuroendocrine tumors (pNETs), malignant in 80% of cases, thus highlighting the importance of early diagnosis and treatment. Primary manifestations are diabetes, dermatosis, depression, weight loss, and deep vein thrombosis. Unlike other pNETs, glucagonomas are associated with a higher incidence of thromboembolic events, often resulting in death. We present the case of a glucagonoma patient whose primary manifestation was cerebral sinus venous thrombosis (CS-VT). Early diagnosis enabled curative resection. The purpose of this paper is to review the underlying mechanisms associated with increased coagulopathy in glucagonomas.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"54 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78366477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
R. El Qadiry, K. Danaoui, H. Nassih, A. Bourrahouat, I. Ait Sab
Turner's syndrome (TS) is a sex chromosome disorder due to loss of either all or part of the X chromosome, in some or all the cells of the body. Neurofibromatosis type 1 (NF-1) is a multisystemic genetic disorder that is only rarely observed in association with Turner syndrome. Only six cases of Turner syndrome associated with NF-1 have been reported in the literature. In this study, we report the first case with TS and NF-1 in a Moroccan child. Case Report. A 16-year-old female was born of a nonconsanguineous marriage. In her family history, her mother had multiple café-au-lait spots with Lisch nodules on ophthalmologic examination. She was diagnosed with TS (karyotype: 45, X) due to short stature and characteristic features. The diagnosis of NF-1 was made according to the presence of four diagnostic criteria of the National Institute of Health Consensus Development Conference. Conclusion. Coexistence of NF-1 with TS is rare. We consider that this may be the seventh case report of TS associated with NF-1.
{"title":"Rare Association between Two Genetic Conditions: Turner Syndrome and Neurofibromatosis Type 1","authors":"R. El Qadiry, K. Danaoui, H. Nassih, A. Bourrahouat, I. Ait Sab","doi":"10.1155/2022/6116603","DOIUrl":"https://doi.org/10.1155/2022/6116603","url":null,"abstract":"Turner's syndrome (TS) is a sex chromosome disorder due to loss of either all or part of the X chromosome, in some or all the cells of the body. Neurofibromatosis type 1 (NF-1) is a multisystemic genetic disorder that is only rarely observed in association with Turner syndrome. Only six cases of Turner syndrome associated with NF-1 have been reported in the literature. In this study, we report the first case with TS and NF-1 in a Moroccan child. Case Report. A 16-year-old female was born of a nonconsanguineous marriage. In her family history, her mother had multiple café-au-lait spots with Lisch nodules on ophthalmologic examination. She was diagnosed with TS (karyotype: 45, X) due to short stature and characteristic features. The diagnosis of NF-1 was made according to the presence of four diagnostic criteria of the National Institute of Health Consensus Development Conference. Conclusion. Coexistence of NF-1 with TS is rare. We consider that this may be the seventh case report of TS associated with NF-1.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"26 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80423669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jan Adelmeyer, J. Goebel, Alexander Kauka, P. Kann
The ongoing COVID-19 pandemic, caused by a coronavirus named SARS-CoV-2, has struck the planet with great force. As of December 2019, the virus has made its devasting route across all continents . In January 2022, the World Health Organization (WHO) registered over 5.5 million COVID-19 related deaths. Most of these people had suffered from pneumonia and acute respiratory distress syndrome , and in some cases, extensive damage to all organ systems. To get hold of this pandemic, it was vital to find effective vaccines against it. The two vaccine candidates BNT162b2 (BioNTech/Pfizer) and ChAdOx1 (University of Oxford and AstraZeneca) offer a high level of protection against COVID-19 by providing immunity due to antibody production against the spike protein of SARS-CoV-2. In addition to general side effects, immunological side effects such as subacute thyroiditis can follow the vaccination. This transient inflammatory condition of the thyroid gland is characterized with hyperthyroxinemia, inflammation, pain, and tenderness in the thyroid region, as well as an elevation of serum thyroglobulin concentration. There are only a few reports on the occurrence of this disease after receiving a COVID-19 vaccine. We present two cases of subacute thyroiditis after vaccination with the vaccines BNT162b2 and ChAdOx1 and try to enlighten the problem of immunological phenomena after vaccination. It must be discussed whether cross-reactivity of the spike protein and tissue proteins such as thyroid peroxidase (TPO), an “autoimmune/inflammatory syndrome by adjuvants” (ASIA), or the circulating spike protein itself after vaccination are responsible for the SAT.
{"title":"Two Case Reports of Subacute Thyroiditis after Receiving Vaccine for COVID-19","authors":"Jan Adelmeyer, J. Goebel, Alexander Kauka, P. Kann","doi":"10.1155/2022/3180004","DOIUrl":"https://doi.org/10.1155/2022/3180004","url":null,"abstract":"The ongoing COVID-19 pandemic, caused by a coronavirus named SARS-CoV-2, has struck the planet with great force. As of December 2019, the virus has made its devasting route across all continents . In January 2022, the World Health Organization (WHO) registered over 5.5 million COVID-19 related deaths. Most of these people had suffered from pneumonia and acute respiratory distress syndrome , and in some cases, extensive damage to all organ systems. To get hold of this pandemic, it was vital to find effective vaccines against it. The two vaccine candidates BNT162b2 (BioNTech/Pfizer) and ChAdOx1 (University of Oxford and AstraZeneca) offer a high level of protection against COVID-19 by providing immunity due to antibody production against the spike protein of SARS-CoV-2. In addition to general side effects, immunological side effects such as subacute thyroiditis can follow the vaccination. This transient inflammatory condition of the thyroid gland is characterized with hyperthyroxinemia, inflammation, pain, and tenderness in the thyroid region, as well as an elevation of serum thyroglobulin concentration. There are only a few reports on the occurrence of this disease after receiving a COVID-19 vaccine. We present two cases of subacute thyroiditis after vaccination with the vaccines BNT162b2 and ChAdOx1 and try to enlighten the problem of immunological phenomena after vaccination. It must be discussed whether cross-reactivity of the spike protein and tissue proteins such as thyroid peroxidase (TPO), an “autoimmune/inflammatory syndrome by adjuvants” (ASIA), or the circulating spike protein itself after vaccination are responsible for the SAT.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"52 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85865719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sandip Kuikel, S. Aryal, Rupesh Shingh Basnyat, Suman Rimal
Cushing syndrome is a state of hypercortisolism from exogenous or endogenous exposure to glucocorticoids resulting in various clinical manifestations. In this case report, we present a case of a 15-month-old child who presented with cushingoid facies due to over-the-counter misuse of a very potent topical steroid (clobetasol 0.05%) for suspected scabies. Laboratory measurement of urinary free cortisol level was low, and 8 : 00 am basal cortisol level was measured, which was decreased, which confirmed the diagnosis of Cushing syndrome due to exogenous source. Over-the-counter topical steroids should not be used, and one should always consult a registered medical practitioner before using such products. Physicians when prescribing topical steroids should warn patients about the potential side effects of prolonged use of topical steroids.
{"title":"Cushing Syndrome in a Pediatric Patient with Topical Steroid Overuse","authors":"Sandip Kuikel, S. Aryal, Rupesh Shingh Basnyat, Suman Rimal","doi":"10.1155/2022/8487737","DOIUrl":"https://doi.org/10.1155/2022/8487737","url":null,"abstract":"Cushing syndrome is a state of hypercortisolism from exogenous or endogenous exposure to glucocorticoids resulting in various clinical manifestations. In this case report, we present a case of a 15-month-old child who presented with cushingoid facies due to over-the-counter misuse of a very potent topical steroid (clobetasol 0.05%) for suspected scabies. Laboratory measurement of urinary free cortisol level was low, and 8 : 00 am basal cortisol level was measured, which was decreased, which confirmed the diagnosis of Cushing syndrome due to exogenous source. Over-the-counter topical steroids should not be used, and one should always consult a registered medical practitioner before using such products. Physicians when prescribing topical steroids should warn patients about the potential side effects of prolonged use of topical steroids.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"90 3 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79767248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A number of causes are responsible for the development of cystic lesions in the liver. However, metastasis is a rare cause, and cystic metastasis from medullary thyroid carcinoma has not yet been reported. A 46-year-old Japanese man presented to our hospital with a mass in the left side of his neck. Neck and thyroid ultrasonography revealed a thyroid tumor with calcification and enlarged cervical lymph nodes. He had a family history of medullary thyroid cancer. Computed tomography revealed a tumor in the thyroid and multiple cysts in the liver. Total thyroidectomy with modified neck and upper mediastinum dissections were performed. After surgery, vandetanib treatment was initiated owing to tumor progression; following this, the liver cysts increased in size, abdominal distension appeared, and serum liver enzyme levels were found to be elevated. Percutaneous liver cyst puncture was performed to reduce abdominal distension; however, it was ineffective. The liver enzyme levels improved after replacing vandetanib with lenvatinib treatment. The liver cysts in this case were indicated to be associated with medullary thyroid carcinoma.
{"title":"Effect of Vandetanib Treatment on Cystic Changes in the Liver following Metastasis from Medullary Thyroid Carcinoma","authors":"A. Matsui, S. Toda, Daisuke Murayama, H. Iwasaki","doi":"10.1155/2022/9855403","DOIUrl":"https://doi.org/10.1155/2022/9855403","url":null,"abstract":"A number of causes are responsible for the development of cystic lesions in the liver. However, metastasis is a rare cause, and cystic metastasis from medullary thyroid carcinoma has not yet been reported. A 46-year-old Japanese man presented to our hospital with a mass in the left side of his neck. Neck and thyroid ultrasonography revealed a thyroid tumor with calcification and enlarged cervical lymph nodes. He had a family history of medullary thyroid cancer. Computed tomography revealed a tumor in the thyroid and multiple cysts in the liver. Total thyroidectomy with modified neck and upper mediastinum dissections were performed. After surgery, vandetanib treatment was initiated owing to tumor progression; following this, the liver cysts increased in size, abdominal distension appeared, and serum liver enzyme levels were found to be elevated. Percutaneous liver cyst puncture was performed to reduce abdominal distension; however, it was ineffective. The liver enzyme levels improved after replacing vandetanib with lenvatinib treatment. The liver cysts in this case were indicated to be associated with medullary thyroid carcinoma.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"68 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72650089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cushing's syndrome (CS) secondary to ectopic adrenocorticotrophic hormone (ACTH)-producing prostate cancer is rare with less than 50 cases reported. The diagnosis can be challenging due to atypical and variable clinical presentations of this uncommon source of ectopic ACTH secretion. We report a case of Cushing's syndrome secondary to prostate adenocarcinoma who presented with symptoms of severe hypercortisolism with recurrent hypokalaemia, limb oedema, limb weakness, and sepsis. He presented with severe hypokalaemia and metabolic alkalosis (potassium 2.5 mmol/L and bicarbonate 36 mmol/L), with elevated 8 am cortisol 1229 nmol/L. ACTH-dependent Cushing's syndrome was diagnosed with inappropriately normal ACTH 57.4 ng/L, significantly elevated 24-hour urine free cortisol and unsuppressed cortisol after 1 mg low-dose, 2-day low-dose, and 8 mg high-dose dexamethasone suppression tests. 68Ga-DOTANOC PET/CT showed an increase in DOTANOC avidity in the prostate gland, and his prostate biopsy specimen was stained positive for ACTH and markers for neuroendocrine differentiation. He was started on ketoconazole, which was switched to IV octreotide in view of liver dysfunction from hepatic metastases. He eventually succumbed to the disease after 3 months of his diagnosis. It is imperative to recognize prostate carcinoma as a source of ectopic ACTH secretion as it is associated with poor clinical outcomes, and the diagnosis can be missed due to atypical clinical presentations.
{"title":"Challenging Case of Ectopic ACTH Secretion from Prostate Adenocarcinoma","authors":"W. Zeng, J. Khoo","doi":"10.1155/2022/3739957","DOIUrl":"https://doi.org/10.1155/2022/3739957","url":null,"abstract":"Cushing's syndrome (CS) secondary to ectopic adrenocorticotrophic hormone (ACTH)-producing prostate cancer is rare with less than 50 cases reported. The diagnosis can be challenging due to atypical and variable clinical presentations of this uncommon source of ectopic ACTH secretion. We report a case of Cushing's syndrome secondary to prostate adenocarcinoma who presented with symptoms of severe hypercortisolism with recurrent hypokalaemia, limb oedema, limb weakness, and sepsis. He presented with severe hypokalaemia and metabolic alkalosis (potassium 2.5 mmol/L and bicarbonate 36 mmol/L), with elevated 8 am cortisol 1229 nmol/L. ACTH-dependent Cushing's syndrome was diagnosed with inappropriately normal ACTH 57.4 ng/L, significantly elevated 24-hour urine free cortisol and unsuppressed cortisol after 1 mg low-dose, 2-day low-dose, and 8 mg high-dose dexamethasone suppression tests. 68Ga-DOTANOC PET/CT showed an increase in DOTANOC avidity in the prostate gland, and his prostate biopsy specimen was stained positive for ACTH and markers for neuroendocrine differentiation. He was started on ketoconazole, which was switched to IV octreotide in view of liver dysfunction from hepatic metastases. He eventually succumbed to the disease after 3 months of his diagnosis. It is imperative to recognize prostate carcinoma as a source of ectopic ACTH secretion as it is associated with poor clinical outcomes, and the diagnosis can be missed due to atypical clinical presentations.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"37 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87849215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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