scholarly journals First-positive surveillance screening in an asymptomatic SDHA germline mutation carrier

2019 ◽  
Vol 2019 ◽  
Author(s):  
Gemma White ◽  
Nicola Tufton ◽  
Scott A Akker
Keyword(s):  
Genetic Mutation ◽  
Pathogenic Variant ◽  
List Type ◽  
Carotid Body Tumour ◽  
Related Disease ◽  
Surveillance Imaging ◽  
Genetic Landscape ◽  
Succinate Dehydrogenase Complex ◽  
Learning Points ◽  
Dehydrogenase Complex

Summary At least 40% of phaeochromocytomas and paraganglioma’s (PPGLs) are associated with an underlying genetic mutation. The understanding of the genetic landscape of these tumours has rapidly evolved, with 18 associated genes now identified. Among these, mutations in the subunits of succinate dehydrogenase complex (SDH) are the most common, causing around half of familial PPGL cases. Occurrence of PPGLs in carriers of SDHB, SDHC and SDHD subunit mutations has been long reported, but it is only recently that variants in the SDHA subunit have been linked to PPGL formation. Previously documented cases have, to our knowledge, only been found in isolated cases where pathogenic SDHA variants were identified retrospectively. We report the case of an asymptomatic suspected carotid body tumour found during surveillance screening in a 72-year-old female who is a known carrier of a germline SDHA pathogenic variant. To our knowledge, this is the first screen that detected PPGL found in a previously identified SDHA pathogenic variant carrier, during surveillance imaging. This finding supports the use of cascade genetic testing and surveillance screening in all carriers of a pathogenic SDHA variant. Learning points: SDH mutations are important causes of PPGL disease. SDHA is much rarer compared to SDHB and SDHD mutations. Pathogenicity and penetrance are yet to be fully determined in cases of SDHA-related PPGL. Surveillance screening should be used for SDHA PPGL cases to identify recurrence, metastasis or metachronous disease. Surveillance screening for SDH-related disease should be performed in identified carriers of a pathogenic SDHA variant.

scholarly journals Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation

2019 ◽  
Vol 2019 ◽  
Author(s):  
Catherine D Zhang ◽  
Pavel N Pichurin ◽  
Aleh Bobr ◽  
Melanie L Lyden ◽  
William F Young ◽  
...  
Keyword(s):  
Cushing Syndrome ◽  
Carney Complex ◽  
Pathogenic Variant ◽  
Endocrine Tumors ◽  
List Type ◽  
Pathogenic Variants ◽  
Adrenal Imaging ◽  
Unenhanced Computed Tomography ◽  
Learning Points ◽  
Tomography Scan

Summary Carney complex (CNC) is a rare multiple neoplasia syndrome characterized by spotty pigmentation of the skin and mucosa in association with various non-endocrine and endocrine tumors, including primary pigmented nodular adrenocortical disease (PPNAD). A 20-year-old woman was referred for suspected Cushing syndrome. She had signs of cortisol excess as well as skin lentigines on physical examination. Biochemical investigation was suggestive of corticotropin (ACTH)-independent Cushing syndrome. Unenhanced computed tomography scan of the abdomen did not reveal an obvious adrenal mass. She subsequently underwent bilateral laparoscopic adrenalectomy, and histopathology was consistent with PPNAD. Genetic testing revealed a novel frameshift pathogenic variant c.488delC/p.Thr163MetfsX2 (ClinVar Variation ID: 424516) in the PRKAR1A gene, consistent with clinical suspicion for CNC. Evaluation for other clinical features of the complex was unrevealing. We present a case of PPNAD-associated Cushing syndrome leading to the diagnosis of CNC due to a novel PRKAR1A pathogenic variant. Learning points: PPNAD should be considered in the differential for ACTH-independent Cushing syndrome, especially when adrenal imaging appears normal. The diagnosis of PPNAD should prompt screening for CNC. CNC is a rare multiple neoplasia syndrome caused by inactivating pathogenic variants in the PRKAR1A gene. Timely diagnosis of CNC and careful surveillance can help prevent potentially fatal complications of the disease.

scholarly journals IgG4-related thyroiditis: a case report and review of literature

2014 ◽  
Vol 2014 ◽  
Author(s):  
Mahmud Abo Salook ◽  
Carlos Benbassat ◽  
Yulia Strenov ◽  
Amit Tirosh
Keyword(s):  
Hashimoto’S Thyroiditis ◽  
Systemic Disease ◽  
Hashimoto's Thyroiditis ◽  
List Type ◽  
Review Of Literature ◽  
Related Disease ◽  
Igg4 Related Disease ◽  
Aggressive Form ◽  
Learning Points ◽  
Very High

Summary A 55-year-old male, with a positive medical history for hypothyroidism, treated with stable doses for years was admitted with subacute thyroiditis and a feeling of pain and pressure in the neck. Laboratory tests showed decrease in TSH levels, elevated erythrocyte sedimentation rate, and very high antithyroid antibodies. Owing to enlarging goiter and exacerbation in the patient's complaints, he was operated with excision of a fibrotic and enlarged thyroid lobe. Elevated IgG4 plasma levels and high IgG4/IgG plasma cell ratio on immunohistochemistry led to the diagnosis of IgG4-mediated thyroiditis. We concluded that IgG4-thyroiditis and IgG4-related disease should be considered in all patients with an aggressive form of Hashimoto's thyroiditis. Learning points IgG4-related disease is a systemic disease that includes several syndromes; IgG4-related thyroiditis is one among them. IgG4-thyroiditis should be considered in all patients with an aggressive form of Hashimoto's thyroiditis. Patients with suspected IgG4-thyroiditis should have blood tested for IgG4/IgG ratio and appropriate immunohistochemical staining if possible.

scholarly journals A case of pituitary apoplexy in pregnancy

2014 ◽  
Vol 2014 ◽  
Author(s):  
Aimee R Hayes ◽  
Anthony J O'Sullivan ◽  
Mark A Davies
Keyword(s):  
Pituitary Apoplexy ◽  
Rare Event ◽  
Visual Disturbance ◽  
List Type ◽  
The Subject ◽  
Magnetic Resonance Imaging Mri ◽  
Evidence Of Impact ◽  
Learning Points ◽  
Visual Abnormalities ◽  
In Pregnancy

Summary Pituitary apoplexy is a rare event in pregnancy. A 41-year-old woman with a known pituitary microadenoma presented with visual disturbance and headache during the second trimester of pregnancy. Magnetic resonance imaging (MRI) demonstrated pituitary apoplexy with chiasmal compression. After treatment with corticosteroid therapy, she underwent transsphenoidal excision of the pituitary adenoma. Visual abnormalities were completely restored and pituitary function preserved. There was no evidence of impact on the foetus. The literature on the subject is reviewed with emphasis on the management of the apoplectic patient with mild and stable neuro-ophthalmological signs. Learning points There are no clear guidelines on the management of pituitary apoplexy in pregnancy. A multidisciplinary approach can minimise morbidity and mortality. Pituitary apoplexy has an unpredictable clinical course and determining which clinical situations warrant early surgery needs to take into consideration the presence and severity of neurological signs and their stability. The management of conscious apoplectic patients with absent or mild and stable neuro-ophthalmological signs is controversial.

scholarly journals A ‘giant’ paraganglioma in the testis

2014 ◽  
Vol 2014 ◽  
Author(s):  
Marinos C Makris ◽  
Konstantinos C Koumarelas ◽  
Apostolos S Mitrousias ◽  
Giannos G Psathas ◽  
Athanasios Mantzioros ◽  
...  
Keyword(s):  
Lung Metastasis ◽  
Spermatic Cord ◽  
Chromaffin Cell ◽  
Benign Tumors ◽  
List Type ◽  
Adrenal Chromaffin Cell ◽  
Malignant Paraganglioma ◽  
First Case ◽  
Adrenal Chromaffin ◽  
Learning Points

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.

scholarly journals Pituitary injury and persistent hypofunction resulting from a peripartum non-hemorrhagic, vaso-occlusive event

2015 ◽  
Vol 2015 ◽  
Author(s):  
Anita Kuriya ◽  
David V Morris ◽  
Michael H Dahan
Keyword(s):  
Literature Review ◽  
Pituitary Gland ◽  
Dopamine Agonists ◽  
List Type ◽  
Fetal Demise ◽  
Common Cause ◽  
The Past ◽  
Vascular Accidents ◽  
Learning Points ◽  
Do So

Summary Cerebral vascular accidents are caused by vasospasm when induced by preeclampsia or by dopamine agonists. However, six arteries nourish the pituitary and prevent against vasospasm-induced damage, which up until now has not been thought to occur. Bromocriptine was used to arrest lactation in a 31-year-old with secondary amenorrhea following preeclampsia and fetal demise at 28 weeks gestation. Tests and history revealed panhypopituitarism not associated with hemorrhage or mass infarction but instead caused by vasospasm. The present study is the first report of pituitary damage from a non-hemorrhagic, vaso-occlusive event in the literature. In keeping with Sheehan's and Simon's syndromes, we have named pituitary damage resulting from vaso-occlusion as Dahan's syndrome, and a literature review suggests that it may be a common and previously overlooked disorder. Learning points Vasospasm can cause damage to the pituitary gland, although it was not previously believed to do so. Preeclampsia and the use of a dopamine agonist, particularly in the peripartum state, may trigger vasospasm. Vasospasm resulting from dopamine agonists may be a common cause of injury to the pituitary gland, and it may have been overlooked in the past.

scholarly journals Carbimazole induced rhabdomyolysis

2021 ◽  
Vol 2021 ◽  
Author(s):  
Niamh O’Donnell ◽  
Aisling McCarthy ◽  
Ken Thong
Keyword(s):  
Adverse Effect ◽  
Creatine Kinase ◽  
Side Effects ◽  
Temporal Relationship ◽  
Early Recognition ◽  
Antithyroid Drug ◽  
Graves Disease ◽  
List Type ◽  
Musculoskeletal Complaints ◽  
Learning Points

Summary Carbimazole is a commonly used antithyroid drug (ATD), which is associated with several well-established side effects. However, Carbimazole-induced rhabdomyolysis is rarely reported in the literature. We report a 27-year-old male who presented with upper limb myalgia and significantly raised creatine kinase elevation, 1-month post commencement of Carbimazole for Graves’ disease. Carbimazole was ceased with subsequent clinical and biochemical improvement. Though the pathophysiology remains unclear, we hope to raise awareness regarding this rare adverse effect with a view to promote early recognition and prompt discontinuation of the offending medication caused by a commonly used medication in endocrinology. Learning points Musculoskeletal complaints can relate to unidentified and untreated hyperthyroidism. However one must be mindful that the treatment for these disorders can too induce myopathies. ATD-induced myopathy should be considered when there is a temporal relationship between introduction of ATDs and the onset of symptoms. If ATD-induced myopathy is being considered, other causes of myopathy should still be outruled. Prompt discontinuation of potentially offending medications may provide resolution of symptoms and avoid significant consequences.

scholarly journals Effective long-term temozolomide rechallenge in a macroprolactinoma

2018 ◽  
Vol 2018 ◽  
Author(s):  
Benedetta Zampetti ◽  
Giorgia Simonetti ◽  
Roberto Attanasio ◽  
Antonio Silvani ◽  
Renato Cozzi
Keyword(s):  
Aggressive Behavior ◽  
Acquired Resistance ◽  
Pituitary Tumors ◽  
List Type ◽  
Fractionated Radiotherapy ◽  
Resistance To Treatment ◽  
Aggressive Tumors ◽  
Learning Points ◽  
Treatment Surgery

Summary We describe the 20-year course of a 63-year-old male with a macroprolactinoma that acquired resistance to treatment and aggressive behavior after a 4-year successful treatment with cabergoline. He was submitted to multiple surgical resections by a skilled surgeon, fractionated radiotherapy and was eventually treated with temozolomide. After a first 6-month standard cycle, a relapse occurred and he was treated again successfully. Learning points: Prolactinomas are the most frequent type of pituitary adenoma. They usually have a benign course. In most cases dopamine-agonist drugs, mainly cabergoline, are first-line (and usually only) treatment. Occasionally prolactinomas can have or acquire resistance to treatment and/or aggressive behavior. Temozolomide (TMZ), an oral alkylating drug, can be effective in such aggressive tumors. Multimodal treatment (surgery, radiation, cabergoline and TMZ) is warranted in aggressive pituitary tumors. We describe here successful rechallenge with TMZ after relapse occurring 18 months after a first TMZ cycle.

scholarly journals Pasireotide in an insulin-requiring diabetic acromegalic patient without worsening of hyperglycemia

2017 ◽  
Vol 2017 ◽  
Author(s):  
Murray B Gordon ◽  
Kellie L Spiller
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
List Type ◽  
Effective Treatment Option ◽  
Patients With Diabetes ◽  
Long Acting ◽  
Learning Points

Summary Long-acting pasireotide is an effective treatment option for acromegaly, but it is associated with hyperglycemia, which could impact its use in patients with diabetes. We present a case of a 53-year-old man with acromegaly and type 2 diabetes mellitus (glycated hemoglobin (HbA1c): 7.5%), who refused surgery to remove a pituitary macroadenoma and enrolled in a Phase 3 clinical trial comparing long-acting pasireotide and long-acting octreotide in acromegalic patients. The patient initially received octreotide, but insulin-like growth factor 1 (IGF-1) levels remained elevated after 12 months (383.9 ng/mL; 193.0 ng/mL; reference range: 86.5–223.8 ng/mL), indicating uncontrolled acromegaly. He switched to pasireotide 40 mg and subsequently increased to 60 mg. Within 6 months, IGF-1 levels normalized (193.0 ng/mL), and they were mostly normal for the next 62 months of treatment with pasireotide (median IGF-1: 190.7 ng/mL). Additionally, HbA1c levels remained similar to or lower than baseline levels (range, 6.7% to 7.8%) during treatment with pasireotide despite major changes to the patient’s antidiabetic regimen, which included insulin and metformin. Uncontrolled acromegaly can result in hyperglycemia due to an increase in insulin resistance. Despite having insulin-requiring type 2 diabetes, the patient presented here did not experience a long-term increase in HbA1c levels upon initiating pasireotide, likely because long-term control of acromegaly resulted in increased insulin sensitivity. This case highlights the utility of long-acting pasireotide to treat acromegaly in patients whose levels were uncontrolled after long-acting octreotide and who manage diabetes with insulin. Learning points Long-acting pasireotide provided adequate, long-term biochemical control of acromegaly in a patient with insulin-requiring type 2 diabetes mellitus who was unresponsive to long-acting octreotide. Glycemic levels initially increased after starting treatment with pasireotide but quickly stabilized as acromegaly became controlled. Long-acting pasireotide, along with an appropriate antidiabetic regimen, may be a suitable therapy for patients with acromegaly who also have insulin-requiring type 2 diabetes mellitus.

scholarly journals Cantu syndrome and hypopituitarism: implications for endocrine monitoring

2019 ◽  
Vol 2019 ◽  
Author(s):  
Nicholas J Theis ◽  
Toby Calvert ◽  
Peter McIntyre ◽  
Stephen P Robertson ◽  
Benjamin J Wheeler
Keyword(s):  
Anterior Pituitary ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Facial Features ◽  
Pituitary Hormone ◽  
List Type ◽  
Pituitary Dysfunction ◽  
Pathogenic Variants ◽  
Clinical Surveillance ◽  
Learning Points

Summary Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous disorder. It is characterized by hypertrichosis, cardiac and skeletal anomalies and distinctive coarse facial features. We report a case where slowed growth velocity at 13 years led to identification of multiple pituitary hormone deficiencies. This adds to other reports of pituitary abnormalities in this condition and supports inclusion of endocrine monitoring in the clinical surveillance of patients with Cantu syndrome. Learning points: Cantu syndrome is a rare genetic disorder caused by pathogenic variants in the ABCC9 and KCNJ8 genes, which result in gain of function of the SUR2 or Kir6.1 subunits of widely expressed KATP channels. The main manifestations of the syndrome are varied, but most commonly include hypertrichosis, macrosomia, macrocephaly, coarse ‘acromegaloid’ facies, and a range of cardiac defects. Anterior pituitary dysfunction may be implicated in this disorder, and we propose that routine screening should be included in the clinical and biochemical surveillance of patients with Cantu syndrome.

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