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Case Reports in Endocrinology

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https://read.qxmd.com/read/31089432/hereditary-hypercalcemia-caused-by-a-homozygous-pathogenic-variant-in-the-cyp24a1-gene-a-case-report-and-review-of-the-literature
#1
Daniele Cappellani, Alessandro Brancatella, Martin Kaufmann, Angelo Minucci, Edda Vignali, Domenico Canale, Elisa De Paolis, Ettore Capoluongo, Filomena Cetani, Glenville Jones, Claudio Marcocci
Introduction: Loss of function mutations of CYP24A1 gene, which is involved in vitamin D catabolism, cause vitamin D-mediated PTH-independent hypercalcemia. The phenotype varies from life-threatening forms in the infancy to milder forms in the adulthood. Case Presentation: We report a case of a 17-year-old woman with a history of nephrolithiasis, mild PTH-independent hypercalcemia (10,5mg/dL), and high serum 1,25(OH)2 D concentrations (107pg/mL). Other causes of hypercalcemia associated with the above biochemical signature were excluded...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/31061738/syndrome-of-inappropriate-antidiuretic-hormone-secretion-siadh-and-subsequent-central-diabetes-insipidus-a-rare-presentation-of-pituitary-apoplexy
#2
S B Smedegaard, J O Jørgensen, N Rittig
Pituitary apoplexy (PA) is a rare endocrine emergency that occasionally presents with sodium disturbances. Here we present a rare case with a previously healthy 41-year-old female who presented with acute onset headache and nausea without visual impairment or overt pituitary dysfunction. Plasma sodium concentrations declined abruptly during the first two days of admission to a nadir of 111 mmol/l. Urine and blood chemistry were consistent with syndrome of inappropriate antidiuretic hormone secretion (SIADH)...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/31019814/interleukin-6-producing-pheochromocytoma-a-rare-cause-of-systemic-inflammatory-response-syndrome
#3
Nelson Carvalho Cunha, Leonor Gomes, Joana Saraiva, Isabel Paiva
Systemic inflammatory response syndrome (SIRS) can be a rare manifestation of pheochromocytoma, since this adrenal tumor may produce cytokines and other hormones or neuropeptides besides catecholamines. We report the case of a 53-year-old female patient with a pheochromocytoma that presented with fever and weight loss of 5% in one month along with normocytic anemia, thrombocytosis, leukocytosis, and elevated C-reactive protein. In this setting, interleukin-6 (IL-6) was requested and was elevated [26.7ng/L (<7...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/31007958/unusual-case-of-malignant-struma-ovarii-and-cervical-thyroid-cancer-preceded-by-ovarian-teratoma-case-report-and-review-of-the-literature
#4
Elias G Tzelepis, Elena Barengolts, Steven Garzon, Joseph Shulan, Yuval Eisenberg
Objective: To present a rare case of malignant struma ovarii (MSO) and synchronous thyroid cancer, review the medical literature, and present the latest trends in management. Methods: The case of a woman with MSO and concomitant thyroid cancer is presented, including clinical presentation, treatment, and follow-up care. A search of the English-language literature was conducted using MEDLINE and Google Scholar data bases. Results: We found 10 publications (one abstract) describing 10 patients with MSO and concomitant thyroid cancer...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/30993022/medullary-thyroid-carcinoma-and-papillary-thyroid-carcinoma-in-the-same-patient-as-a-collision-tumour
#5
Oguz Dikbas, Aslihan Alpaslan Duman, Gulname Findik Guvendi
Aim: Papillary thyroid carcinoma (PTC) and medullary thyroid carcinoma (MTC) are two different types of thyroid carcinoma with significant different clinical and histological findings. Their coexistence in the same patient is a very rare event which demands different clinical approach. Case Report: We report a case with concurrent MTC and PTC in the same thyroid having characteristics of a collision tumour. A 35-year-old patient has admitted to endocrinology outpatient department with complaint of pain in the neck...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/30949368/autosomal-dominant-hypophosphatemic-rickets-presenting-in-a-phenotypically-normal-adult-female
#6
Hala Mualla, Su Ah Bae, Abid Yaqub
We describe a presentation of Autosomal Dominant Hypophosphatemic Rickets (ADHR) in a 22-year-old female with normal pubertal growth and development and a negative family history in first-degree relatives. The patient presented with a 2-year history of upper and lower extremity proximal muscle pain and weakness and bilateral femoral neck and pubic bone insufficiency fractures. She had a normal serum calcium but a low phosphate as well as 25-hydroxyvitamin D (25(OH)D) levels leading initially to a diagnosis of osteomalacia...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/30895164/a-novel-mutation-of-the-calcium-sensing-receptor-gene-causing-familial-hypocalciuric-hypercalcemia-complicates-medical-followup-after-roux-en-y-gastric-bypass-a-case-report-and-a-summary-of-mutations-found-in-the-same-hospital-laboratory
#7
Elin Rebecka Carlsson, Mai-Britt Toft Nielsen, Anne Mette Høgh, Rikke Veggerby Grønlund, Mogens Fenger, Louise Ambye
Heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene are known to cause familial hypocalciuric hypercalcemia (FHH), usually a benign form of hypercalcemia without symptoms of a disrupted calcium homeostasis. FHH can be mistaken for the more common primary hyperparathyroidism (PHPT), for which surgical treatment may be needed. We describe a case of a 36-year-old woman with hypercalcemia and elevated PTH, initially suspected of having PHPT. Sequencing of the CaSR-gene revealed a mutation in nucleotide 437, changing the amino acid in position 146 from Glycine to Aspartate...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/30895163/combination-therapy-with-empagliflozin-and-insulin-results-in-successful-glycemic-control-a-case-report-of-uncontrolled-diabetes-caused-by-autoimmune-pancreatitis-and-subsequent-steroid-treatment
#8
Miyako Kishimoto, Kazuhide Yamaoki, Masayuki Adachi
A 66-year-old Japanese male presented with thirst, polyuria, and hemoglobin A1c and postprandial glucose levels (13.1% and 529 mg/dL, respectively) that indicated severe hyperglycemia. Based on his high immunoglobulin G4 level and the results of magnetic resonance imaging and magnetic resonance cholangiopancreatography, we diagnosed him with autoimmune pancreatitis. Insulin was initiated to control his diabetes. One month later, the patient commenced on prednisolone therapy for the treatment of autoimmune pancreatitis, after which his total insulin dosage increased to a maximum of 52 units/day...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/30895162/adult-nesidioblastosis-in-chronic-kidney-disease
#9
Eduardo Lozano-Melendez, Mercedes Aguilar-Soto, Luis Eugenio Graniel-Palafox, Laura Elena Ceceña-Martínez, Rafael Valdez-Ortiz, Fabio Solis-Jimenez
Context: Nesidioblastosis is a rare cause of hyperinsulinemic hypoglycemia in adults. The diagnosis is further complicated in patients with kidney failure, since impaired renal function can cause hypoglycemia by itself and diagnostic criteria for this clinical scenario have not been developed yet. Case Description: We present the case report of a 36-year-old patient with end stage chronic kidney disease who presented to the emergency department because of hypoglycemia...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/30881705/biochemical-and-clinical-features-of-insulinoma-in-a-patient-with-turner-syndrome
#10
Darius A Schneider, M Zare, F Behnia, M Matesan, T Tylee
Turner syndrome (TS), i.e., mosaic or nonmosaic states with only one normal X chromosome in females, is characterized by a wide spectrum of somatic, hormonal, and metabolic features. Here we report an unusual case of recurrent hypoglycemia in a 53-year-old woman with TS. Biochemical work-up following a 72h fast revealed detectable, inappropriate for low glucose insulin levels and elevated proinsulin and beta-hydroxybutyrate (BOHB) levels. MR and multiphase CT showed a solid 2.5 cm pancreatic tail mass with absent uptake in the 111 In-pentetreotide (Octreoscan) scan...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/30867970/a-case-of-refractory-hypothyroidism-due-to-poor-compliance-treated-with-the-weekly-intravenous-and-oral-levothyroxine-administration
#11
Yujiro Nakano, Koshi Hashimoto, Noriaki Ohkiba, Hideyuki Okuma, Isao Minami, Hiromitsu Takahashi, Yuji Tanaka, Takanobu Yoshimoto, Tetsuya Yamada
Refractory hypothyroidism is caused by decreased gut absorption, increased metabolism, and poor compliance. Previous studies suggested that the weekly oral, suppository, or intramuscular administration of levothyroxine (LT4) is an effective treatment for refractory hypothyroidism. However, limited information is currently available on treatment involving the weekly intravenous administration of LT4. We managed a case of refractory hypothyroidism due to poor compliance, for which, by weekly intravenous LT4 administration, LT4 was intravenously administered weekly at a dose of 300 μ g without any adverse effects such as acute ischemic heart diseases or liver dysfunction and effectively maintained the euthyroid status for 14 months...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/30805225/acute-renal-failure-secondary-to-inadvertent-propylene-glycol-overdose-with-single-day-high-dose-vitamin-d-stosstherapy
#12
David H Jelley, Deborah Zayneb Mohamad Ali, Michelle Condren
Globally, there has been increasing attention paid to vitamin D deficiency and its treatment. Vitamin D stosstherapy with high-dose ergocalciferol in a single day is reemerging as a potential treatment option. We present an as yet unreported complication of acute renal injury due to propylene glycol toxicity in a 7-month infant treated with vitamin D stosstherapy. The product label for the vitamin D used for this patient states it is dissolved in propylene glycol (PG), but the amount is not listed on this or other US ergocalciferol liquid products that contain PG...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/30766735/untreated-giant-macroprolactinoma-with-chronic-cerebrospinal-fluid-leakage-an-unusual-complication
#13
Mohamad Nazrulhisham Mad Naser, Nor Azizah Aziz, Noor Khairiah A Karim
Macroprolactinoma has the potential to cause base of skull erosion and often extends into the sphenoid sinus. Rapid shrinkage of this invasive tumor following dopamine agonist therapy has been postulated to cause unplugging of the eroded area, leading to cerebrospinal fluid leakage. To the best of our knowledge, the occurrence of spontaneous cerebrospinal fluid leak in treatment-naive prolactinomas is very rare, the majority of which involve undiagnosed macroprolactinomas. We describe here a lady presented late with giant macroprolactinoma, complicated by cerebrospinal fluid leakage...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/30729047/unrecognized-pseudohypoparathyroidism-type-1a-as-a-cause-of-hypocalcemia-and-seizures-in-a-64-year-old-woman
#14
Patrizia Del Monte, Carla Micaela Cuttica, Alessandro Marugo, Luca Foppiani, Daniela Audenino, Tomasz Tadeusz Godowicz, Francesca Marta Elli, Giovanna Mantovani, Emilio Di Maria
Pseudohypoparathyroidism type 1A (PHP1A) is usually diagnosed in childhood or early adulthood. We describe the case of a 64-year-old woman admitted to the Neurological Unit for recurrent episodes of loss of consciousness and seizures. Glycemia and ECG were normal, while hypocalcemia was noted. Clinical history revealed carpo-pedal spasm since the age of 30 years, cognitive impairment, hypothyroidism since early adulthood, and menopause at 30 years. She was taking oral calcium and cholecalciferol for chronic hypocalcemia...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/30723557/diabetic-ketoacidosis-revealing-a-severe-hypertriglyceridemia-and-acute-pancreatitis-in-type-1-diabetes-mellitus
#15
Fatima Zahra Zaher, Imane Boubagura, Sana Rafi, Ghizlane Elmghari, Nawal Elansari
Diabetic ketoacidosis (DKA) is a life-threatening acute metabolic complication occurring in patients with diabetes, especially in patients with type 1 diabetes (T1D), due to an insulin deficiency. Moderate hypertriglyceridemia is commonly observed in DKA but severe hypertriglyceridemia with a triglyceride level exceeding 10g/L is very rarely reported. We report a case of a 14-year-old boy who had type 1 diabetes for 4 years treated with insulin therapy, also having adrenal insufficiency treated with hydrocortisone who presented with ketoacidosis and excruciating abdominal pain...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/30719358/acute-hyperglycemia-due-to-topical-corticosteroid-administration
#16
Laura Y Sue, Anna Milanesi
We present the case of a 71-year-old man with longstanding, previously well-controlled type 1 diabetes who developed acute hyperglycemia. His insulin requirements, via his insulin pump, increased to nearly five times his typical daily dose. The patient was admitted for evaluation and treatment and started on an insulin infusion. He had minimal insulin requirements with the insulin infusion. History revealed recent use of a super potent topical corticosteroid for a psoriasis flare. The patient was transitioned back to his insulin pump, using his prior to admission settings...
2019: Case Reports in Endocrinology
https://read.qxmd.com/read/30693116/the-mutant-thyroid-hormone-receptor-beta-r320p-causes-syndrome-of-resistance-to-thyroid-hormone
#17
Tetsuya Kimura, Yoshitaka Hayashi, Yuka Tsukamoto, Yasuyuki Okamoto
A 31-year-old Japanese male patient with a history of atrial fibrillation showed elevated serum levels of free thyroxine and triiodothyronine and a normal level of thyrotropin. The same abnormal hormone pattern was also found in his son. These data indicated that the index patient and the son have thyroid hormone resistance syndrome. Exon sequencing using DNA from these two patients revealed that both patients harbored a heterozygous mutation in the THRB gene: G1244C in exon 9, which results in R320P substitution...
2018: Case Reports in Endocrinology
https://read.qxmd.com/read/30693115/breast-cancer-development-in-a-transgender-male-receiving-testosterone-therapy
#18
Nadia Barghouthi, Jennifer Turner, Jessica Perini
Context: To describe a case of invasive ductal carcinoma of the breast in a transgender male receiving testosterone therapy for gender-affirming treatment. Case Description: A 28-year-old transgender male receiving intramuscular testosterone was found to have a breast mass on ultrasound after self-exam revealed a palpable breast lump. Ultrasound-guided breast biopsy revealed estrogen receptor/progesterone receptor (ER/PR) negative, human epidermal growth factor receptor-2 (HER-2) positive, invasive ductal carcinoma of the left breast...
2018: Case Reports in Endocrinology
https://read.qxmd.com/read/30662777/prenatal-diagnosis-and-management-of-a-fetal-goiter-hypothyroidism-due-to-dyshormonogenesis
#19
Catarina Matos Figueiredo, Inês Falcão, Joana Vilaverde, Joana Freitas, Maria João Oliveira, Cristina Godinho, Jorge Dores, Maria Céu Rodrigues, Carmen Carvalho, Teresa Borges
Fetal goiter is a rare disorder not expected to be found during a healthy woman's pregnancy. It can be a prenatal manifestation of congenital hypothyroidism due to thyroid dyshormonogenesis and it can lead to serious perinatal complications. A vascularized fetal neck mass was detected at 29 weeks' gestation of a healthy primigravida. Magnetic resonance was suggestive of goiter causing airway deviation without polyhydramnios. Maternal thyroid function was normal and thyroid antibodies were negative. Two intra-amniotic levothyroxine infusions were performed at 32 and 33 weeks...
2018: Case Reports in Endocrinology
https://read.qxmd.com/read/30647979/isoproterenol-induced-insulin-resistance-leading-to-diabetic-ketoacidosis-in-type-1-diabetes-mellitus
#20
Ryan Hoff, Chung-Kay Koh
Isoproterenol is known to cause insulin resistance and is often used to treat bradyarrhythmias from atrioventricular block. We report a case of isoproterenol induced diabetic ketoacidosis in a 77-year-old female patient treated with isoproterenol for atrioventricular block prior to insertion of permanent pacemaker. Diabetic ketoacidosis (DKA) developed within hours of starting an isoproterenol drip, and there were no other precipitating factors at that time. DKA resolved quickly after discontinuing isoproterenol and starting insulin drip...
2018: Case Reports in Endocrinology
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