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Open access

Hans-Christof Schober, Christian Kneitz, Franziska Fieber, Kathrin Hesse and Henry Schroeder

). Figure 4 The patient’s bone scintigraphy showing a reduction in the intensity of bone remodeling, ‘adult rickety rosary’ sign and ‘tie sign of sternum’ in October 2014 (below) compared to a bone scintigraphy in 2010 (above). Outcome

Open access

Bilal Katipoglu, Ihsan Ates, Fatih Acehan, Ayşenur Meteris and Nisbet Yılmaz

Summary

Hypothyroidism is a wide clinical spectrum disorder and only a few cases in literature show this. Rhabdomyolysis and acute renal impairment can be seen concurrently in a hypothyroid state. We report a case of severe hypothyroidism with poor drug compliance leading to rhabdomyolysis and acute kidney injury.

Learning points:

  • Hypothyroidism is a rare cause of acute kidney injury.
  • In this case report, we studied a rare occurrence of acute renal impairment due to hypothyroidism with poor drug compliance, which induced rhabdomyolysis.
  • Our report emphasized that thyroid status should be evaluated in patients with unexplained acute renal impairment or presenting with the symptoms of muscle involvement.
Open access

V Larouche, L Snell and D V Morris

–18) Free T 3 (pmol/l) (3.5–6.5) July 23, 2014 0.03 21.1 6.8 August 4, 2014 0.05 12.5 5.4 October 8, 2014 0.30 14.4 3.8 November 1, 2014 >100 <1.90 2.46 November 11, 2014 >100 6

Open access

Marinos C Makris, Konstantinos C Koumarelas, Apostolos S Mitrousias, Giannos G Psathas, Athanasios Mantzioros, Stratigoula P Sakellariou, Panagiota Ntailiani and Evripides Yettimis

Summary

Until now, less than ten cases of extra-adrenal chromaffin cell tumors have been reported to be localized to the spermatic cord area. All published studies report benign tumors with a diameter <2–3 cm and no invasion of the testis. In this article, we present one case of a giant malignant paraganglioma in the testis of a patient who had initially been operated for a giant mass in the scrotum. The mass developed in approximately 4 months. This is the first study reporting the following findings: i) paraganglioma was found exclusively in the testis, invading the testicle and not the spermatic cord, ii) it was malignant with lung metastasis, and iii) its size was 17.5 cm×10 cm×9.5 cm. We present the first – giant – malignant paraganglioma. Moreover, it is the first case report of a paraganglioma in the testis.

Learning points

  • This is the first study reporting the following findings:
  • Paraganglioma found exclusively in the testis, invading the testicle and not the spermatic cord.
  • It is malignant with lung metastasis.
  • It is of the size 17.5 cm×10 cm×9.5 cm.

Open access

Geetanjali Kale, Elaine M Pelley and Dawn Belt Davis

Summary

Myelolipomas have been reported in patients with congenital adrenal hyperplasia (CAH). ACTH excess, as seen with non-adherence to glucocorticoid therapy, may be responsible for tumor development. We report a case of a 51-year-old man with classic salt-wasting CAH managed on prednisone 7.5 mg daily and fludrocortisone who presented with chronic back pain and was found to have giant bilateral retroperitoneal masses. On computed tomography (CT) imaging, the masses were heterogeneous, but contained predominantly low-density fat attenuation. The tumors were resected due to concern for malignancy and mass symptoms. Pathologic examination identified both retroperitoneal masses as myelolipomas. The left tumor was 34×20×13 cm and weighed 4.7 kg and the right tumor was 20 cm in the largest dimension. Adrenal tissue was present in the specimen. The patient reported long-term compliance with glucocorticoid treatment. However, no biochemical monitoring of ACTH levels had occurred. Therefore, it is unclear if ACTH excess contributed to the development of these large tumors in this patient. It was presumed that both adrenal glands were inadvertently removed during surgery and the patient was treated with physiologic replacement doses of hydrocortisone and fludrocortisone postoperatively. In this case, the bilateral adrenalectomy was inadvertent. However, adrenalectomy can be considered as a treatment option in patients with classical CAH under certain circumstances to avoid complications of glucocorticoid excess.

Learning points

  • Myelolipomas should be considered in the differential diagnosis of adrenal or retroperitoneal masses in patients with CAH.
  • On CT imaging, myelolipomas are seen as heterogeneous masses with low-density mature fat interspersed with more dense myeloid tissue.
  • Myelolipomas are usually unilateral and measure <4 cm; however, very large and bilateral tumors have been reported.
  • Treatment of CAH typically involves using supraphysiologic doses of glucocorticoid to suppress adrenal hyperandrogenism. Bilateral adrenalectomy is an alternative treatment option in patients with CAH.
  • There is an association between ACTH excess and increased incidence of adrenal myelolipoma but the direct causal link remains to be established.

Open access

Pedro Marques, Kavinga Gunawardana and Ashley Grossman

Summary

Gestational diabetes insipidus (DI) is a rare complication of pregnancy, usually developing in the third trimester and remitting spontaneously 4–6 weeks post-partum. It is mainly caused by excessive vasopressinase activity, an enzyme expressed by placental trophoblasts which metabolises arginine vasopressin (AVP). Its diagnosis is challenging, and the treatment requires desmopressin. A 38-year-old Chinese woman was referred in the 37th week of her first single-gestation due to polyuria, nocturia and polydipsia. She was known to have gestational diabetes mellitus diagnosed in the second trimester, well-controlled with diet. Her medical history was unremarkable. Physical examination demonstrated decreased skin turgor; her blood pressure was 102/63 mmHg, heart rate 78 beats/min and weight 53 kg (BMI 22.6 kg/m2). Laboratory data revealed low urine osmolality 89 mOsmol/kg (350–1000), serum osmolality 293 mOsmol/kg (278–295), serum sodium 144 mmol/l (135–145), potassium 4.1 mmol/l (3.5–5.0), urea 2.2 mmol/l (2.5–6.7), glucose 3.5 mmol/l and HbA1c 5.3%. Bilirubin, alanine transaminase, alkaline phosphatase and full blood count were normal. The patient was started on desmopressin with improvement in her symptoms, and normalisation of serum and urine osmolality (280 and 310 mOsmol/kg respectively). A fetus was delivered at the 39th week without major problems. After delivery, desmopressin was stopped and she had no further evidence of polyuria, polydipsia or nocturia. Her sodium, serum/urine osmolality at 12-weeks post-partum were normal. A pituitary magnetic resonance imaging (MRI) revealed the neurohypophyseal T1-bright spot situated ectopically, with a normal adenohypophysis and infundibulum. She remains clinically well, currently breastfeeding, and off all medication. This case illustrates some challenges in the diagnosis and management of transient gestational DI.

Learning points

  • Gestational DI is a rare complication of pregnancy occurring in two to four out of 100 000 pregnancies. It usually develops at the end of the second or third trimester of pregnancy and remits spontaneously 4–6 weeks after delivery.
  • Gestational DI occurrence is related to excessive vasopressinase activity, an enzyme expressed by placental trophoblasts during pregnancy, which metabolises AVP. Its activity is proportional to the placental weight, explaining the higher vasopressinase activity in third trimester or in multiple pregnancies.
  • Vasopressinase is metabolised by the liver, which most likely explains its higher concentrations in pregnant women with hepatic dysfunction, such acute fatty liver of pregnancy, HELLP syndrome, hepatitis and cirrhosis. Therefore, it is important to assess liver function in patients with gestational DI, and to be aware of the risk of DI in pregnant women with liver disease.
  • Serum and urine osmolality are essential for the diagnosis, but other tests such as serum sodium, glucose, urea, creatinine, liver function may be informative. The water deprivation test is normally not recommended during pregnancy because it may lead to significant dehydration, but a pituitary MRI should be performed at some point to exclude lesions in the hypothalamo-pituitary region.
  • These patients should be monitored for vital signs, fluid balance, body weight, fetal status, renal and liver function, and treated with desmopressin. The recommended doses are similar or slightly higher than those recommended for central DI in non-pregnant women, and should be titrated individually.

Open access

Joana Simões-Pereira, Rafael Adame Cabrera and Valeriano Leite

Summary

Thyroid fibromatosis is a very rare lesion; to our knowledge, there are only four cases reported in the medical literature. Herein, we report the clinical case of a woman with thyroid fibromatosis with a long follow-up (11 years). A 63-year-old female patient, with an increasing multinodular goitre without compressive symptoms, was admitted to total thyroidectomy. The histology revealed a spindle-cell proliferation with fibroblastic characteristics with no atypia and thin capillary vessels. Immunohistochemistry was positive for beta-catenin, focally to desmin and alfa-actin and negative for cytokeratins and CD34. Thyroid cells did not display any features of papillary thyroid cancer. These characteristics were compatible with thyroid fibromatosis. For the past 11 years, the patient has been periodically followed up with neck CTs and she has not shown any signs of recurrence. Thyroid fibromatosis has been associated with invasion of surrounding structures in previous reported cases. However, this aggressive behaviour was not observed in our patient. The most challenging differential diagnosis is with papillary thyroid cancer with fibromatosis-like stroma, in which the malignant component is usually peripheral. Therefore, in these cases, it is mandatory to perform an extensive examination of the resected sample.

Learning points:

  • Fibromatosis is a mesenchymal lesion that consists of an infiltrative proliferation of fibroblasts without atypia.
  • Thyroid fibromatosis is a rare entity in this gland. In previously reported cases, it has been associated with an invasive behaviour but this was not the case in our patient.
  • When spindle-cell proliferation with fibroblastic/myofibroblastic characteristics is detected on thyroid histology, it is mandatory to exclude a papillary thyroid carcinoma with fibromatosis-like stroma.

Open access

Ramesh Srinivasan, Stephen Ball, Martin Ward-Platt, David Bourn, Ciaron McAnulty and Tim Cheetham

Summary

Aim: Differentiating familial cranial diabetes insipidus (CDI) from primary polydipsia can be difficult. We report the diagnostic utility of genetic testing as a means of confirming or excluding this diagnosis.

Patient and methods: The index case presented at 3 months with polydipsia. He was diagnosed with familial CDI based on a positive family history combined with what was considered to be suspicious symptomatology and biochemistry. He was treated with desmopressin (DDAVP) but re-presented at 5 months of age with hyponatraemia and the DDAVP was stopped. Gene sequencing of the vasopressin gene in father and his offspring was undertaken to establish the underlying molecular defect.

Results: Both father and daughter were found to have the pathogenic mutation c.242T>C (p.Leu81Pro) in exon 2 of the AVP gene consistent with a diagnosis of familial diabetes insipidus. The index case did not have the pathogenic mutation and the family could be reassured that he would not require intervention with DDAVP.

Conclusions: Gene sequencing of AVP gene can have a valuable role in predicting whether or not a child is at risk of developing CDI in future. This can help to prevent family uncertainty and unnecessary treatment with its associated risks.

Learning points

  • Differentiating patients with familial cranial diabetes insipidus from those with primary polydipsia is not always straightforward.
  • Molecular genetic analysis of the vasopressin gene is a valuable way of confirming or refuting a diagnosis of familial CDI in difficult cases and is a valuable way of identifying individuals who will develop CDI in later childhood. This information can be of great value to families.

Open access

Sachiko-Tsukamoto Kawashima, Takeshi Usui, Yohei Ueda, Maiko-Kakita Kobayashi, Mika Tsuiki, Kanako Tanase-Nakao, Kazutaka Nanba, Tetsuya Tagami, Mitsuhide Naruse, Yoshiki Watanabe, Ryo Asato, Sumiko Kato and Akira Shimatsu

Summary

Parathyroid cystic adenomas are often misdiagnosed as thyroid cysts and routine preoperative diagnostic tools, such as ultrasonography (US) or 99m technetium-sestamibi (99mTc-MIBI) scans, cannot clearly distinguish between these entities. We present a 67-year-old hypercalcemic woman with a cervical cystic lesion who had negative sestamibi scan results. Her laboratory data indicated primary hyperparathyroidism (serum calcium concentration 14.0 mg/dl, phosphate concentration 2.3 mg/dl, and intact parathyroid hormone (PTH) concentration 239 pg/ml). The cervical US and computed tomography scans revealed a large and vertically long cystic mass (12×11×54 mm). A mass was located from the upper end of the left thyroid lobe to the submandibular region and was not clearly distinguishable from the thyroid. For preoperative definitive diagnosis, we carried out a parathyroid fine-needle aspiration (FNA) and PTH assay (PTH–FNA) of liquid aspirated from the cyst. The intact PTH–FNA concentration was 1.28×106 pg/ml, and the patient was diagnosed with primary hyperparathyroidism due to a cystic mass. She underwent a left upper parathyroidectomy and her serum calcium and intact PTH concentration immediately decreased to normal levels. This report describes the usefulness of PTH–FNA for localizing and differentiating an atypical functional parathyroid lesion from nonfunctional tissue in primary hyperparathyroidism.

Learning points

  • Cystic parathyroid lesions, even in the case of elevated PTH levels, can produce negative results in 99mTc-MIBI scans.
  • Preoperative diagnosis of parathyroid cysts detectable on US is possible by parathyroid FNA and PTH assay (PTH–FNA) of liquid aspirated from the cyst, if malignancy is not suspected.
  • PTH–FNA could be helpful in the differential diagnosis of an equivocal cervical tumor.

Open access

Pooja Sahni, Nitin Trivedi and Abdulkadir Omer

Summary

A 65-year-old obese Caucasian woman presented with symptomatic postprandial hypoglycemic episodes, resolution of symptoms with carbohydrate intake and significantly elevated anti-insulin antibody levels. She did not have any evidence for the use of oral antidiabetic medications, insulin, herbal substances, performing strenuous exercise or history of bariatric surgery. Fingerstick blood glucose readings revealed blood sugar of 35 mg/dL and 48 mg/dL, when she had these symptoms. Her medical history was significant for morbid obesity, hypothyroidism and gastro esophageal reflux disease. Her home medications included levothyroxine, propranolol and omeprazole. A blood sample obtained during the symptoms revealed the following: fingerstick blood sugar 38 mg/dL, venous blood glucose 60 mg/dL (normal (n): 70–99 mg/dL), serum insulin 202 IU/mL (n: <21), proinsulin 31.3 pmol/L (n: <28.9), C-peptide 8 ng/mL (n: 0.9–7), beta-hydroxybutyrate 0.12 mmol/L (n: 0.02–0.27) anti-insulin antibody >45.4 U/mL (n: <0.4). The result obtained while screening for serum sulfonylurea and meglitinides was negative. The repeated episodes of postprandial hypoglycemia associated with significantly elevated anti-insulin antibodies led to a diagnosis of insulin antibody syndrome (IAS). Significant improvement of hypoglycemic symptoms and lower anti-insulin antibody levels (33 U/mL) was noted on nutritional management during the following 6 months. Based on a report of pantoprazole-related IAS cases, her omeprazole was switched to a H2 receptor blocker. She reported only two episodes of hypoglycemia, and anti-insulin antibody levels were significantly lower at 10 U/mL after the following 12-month follow-up.

Learning points:

  • Initial assessment of the Whipple criteria is critical to establish the clinical diagnosis of hypoglycemia accurately.
  • Blood sugar monitoring with fingerstick blood glucose method can provide important information during hypoglycemia workup.
  • Autoimmune hypoglycemia is a rare cause of hypoglycemia, which can be diagnosed on high index of clinical suspicion and systematic evaluation.