Multiple endocrine neoplasia: an update

Mcdonnell, Jane E.; Gild, Matti; Clifton‐Bligh, Roderick; Robinson, Bruce G.

doi:10.1111/imj.14394

Cited by 63 publications

(42 citation statements)

References 24 publications

(120 reference statements)

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“…Approximately 5%-10% of patients with MEN1 do not have mutations of the MEN1 gene, and these patients may have mutations involving other genes. One of these genes is the CDNK1B and was identified to be involved by investigations of a recessive MEN-like syndrome in a naturally occuring rat model, referred to as MEN4[29,30], where the most common phenotypic features are parathyroid and pituitary adenomas[31,32]. In our patient the presence of this mutation was negative too.…”

Section: Discussionmentioning

confidence: 68%

Gonadotrophin-releasing hormone agonist-induced pituitary adenoma apoplexy and casual finding of a parathyroid carcinoma: A case report and review of literature

Triviño¹,

Fidalgo²,

Juane³

et al. 2019

WJCC

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BACKGROUNDPituitary apoplexy represents one of the most serious, life threatening endocrine emergencies that requires immediate management. Gonadotropin-releasing hormone agonist (GnRHa) can induce pituitary apoplexy in those patients who have insidious pituitary adenoma coincidentally.CASE SUMMARYA 46-year-old woman, with a history of hypertension and menorrhagia was transferred to our hospital from a secondary care hospital after complaints of headache and vomiting, with loss of consciousness 5 min after an injection of GnRHa. The drug was prescribed by her gynecologist due to the presence of uterine myomas. The clinical neurological examination revealed right cranial nerve III palsy, ptosis and movement limitation of the right eye. Our first clinical consideration was a pituitary apoplexy. Blood hormonal analysis revealed mild hyperprolactinemia and high follicle stimulating hormone level; PTH and calcium was high with glomerular filtration rate mildly to moderately decrease. A computed tomography scan, revealed an enlarged pituitary gland (3.5 cm) impinging upon the optic chiasm with bone involvement of the sella. Following contrast media administration, the lesion showed homogeneous enhancement with high-density focus that suggests hemorrhagic infarction of the tumor. Transsphenoidal endoscopic surgery was perfomed and adenomatous tissue was removed. Immunohistochemistry was positive for luteinizing hormone (LH) and follicular-stimulating hormone (FSH). A solid hypoechoic nodule (14 mm x 13 mm x 16 mm) was found in the caudal portion of the right thyroid lobe after a parathyroid ultrasound. A genetic test of Multiple Endocrine Neoplasia type 1 (MEN1) was negative. A right lower parathyroidectomy was performed and the pathologic study showed the presence of an encapsulated parathyroid carcinoma of 1.5 cm. A MEN type 4 genetic test was performed result was negative.CONCLUSIONThis case demonstrates an uncommon complication of GnRH agonist therapy in the setting of a pituitary macroadenoma and the casual finding of parathyroid carcinoma. It also highlights the importance of suspecting the presence of a multiple endocrine neoplasia syndrome and to carry out relevant genetic studies.

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Section: Discussionmentioning

confidence: 68%

Gonadotrophin-releasing hormone agonist-induced pituitary adenoma apoplexy and casual finding of a parathyroid carcinoma: A case report and review of literature

Triviño¹,

Fidalgo²,

Juane³

et al. 2019

WJCC

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“…Extraendocrine features tend to manifest far earlier than the age at which endocrine signs become apparent. [21,22]. Glaucoma has been reported in both adult and paediatric patients; however, it is not as common as mucosal lesions [23,24].…”

Section: Discussionmentioning

confidence: 99%

“…MEN2B is characterised by the development of aggressive, early-onset MTC that typically presents in the first and second decade [21]. At the time of diagnosis, the patient was 14 years old, which corresponds with the mean age of MTC appearance.…”

Section: Discussionmentioning

confidence: 99%

MEN2B syndrome – paediatric case report

Zendran

Szlasa

Bis

et al. 2020

pedm

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Multiple endocrine neoplasia 2B (MEN 2B) is a rare syndrome caused by mutation of the RET proto-oncogene. Early-onset medullary thyroid carcinoma (MTC), marfanoid habitus, and mucosal neuromas occur in most cases, and some patients develop pheochromocytoma in later life. We present a case of a 16-year-old girl diagnosed with MEN 2B syndrome with an atypical course of the disease. Our patient had no family history of MTC and presented short stature instead of marfanoid features. Rare ophthalmological manifestations also occurred. The example of this patient proves that rare endocrinological syndromes should be taken into consideration when diagnosing unclear symptoms, even if not all of the typical manifestations are present.

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“…PEG-IFN is considered safe to use during breastfeeding as the drug is excreted into breast milk in very small amounts and is not absorbed from the gastrointestinal lumen. 40…”

Section: Peg-ifn In Pregnancymentioning

confidence: 99%

Recommendations for the use of pegylated interferon‐α in the treatment of classical myeloproliferative neoplasms

Forsyth

Chan

Grigg

et al. 2019

Internal Medicine Journal

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The classical myeloproliferative neoplasms (MPN) are uncommon clonal haemopoietic malignancies characterised by excessive production of mature blood cells. Clinically, they are associated with thrombosis, haemorrhage, varying degrees of constitutional disturbance and a risk of progression to myelofibrosis or acute myeloid leukaemia. Many of the disease manifestations may be ameliorated by treatment with interferon‐α (IFN), but its use in Australian MPN patients has been limited due to the inconvenience of frequent injections and side‐effects. The pegylated form of IFN is a long‐acting preparation, which is better tolerated, and its Pharmaceutical Benefits Scheme listing is likely to lead to increased usage. We review the literature on risks and benefits of IFN treatment for MPN, suggest criteria for patient selection in each of these diseases and discuss strategies to manage the side‐effects of pegylated IFN.

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Multiple endocrine neoplasia: an update

Cited by 63 publications

References 24 publications

Gonadotrophin-releasing hormone agonist-induced pituitary adenoma apoplexy and casual finding of a parathyroid carcinoma: A case report and review of literature

Gonadotrophin-releasing hormone agonist-induced pituitary adenoma apoplexy and casual finding of a parathyroid carcinoma: A case report and review of literature

MEN2B syndrome – paediatric case report

Recommendations for the use of pegylated interferon‐α in the treatment of classical myeloproliferative neoplasms

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