In 1903 Erdheim reported multiple endocrine neoplasia type 1 (MEN 1) by autopsy, and in 1954 Wermer reported a familial occurrence of multiple tumors which were associated with neoplastic transformation of parathyroid, pituitary and pancreatic islet cells. This complex association of abnormalities is inherited as an autosomal dominant trait and related to tumor suppressor gene on chromosome 11. In a 38-year-old woman with epigastric discomfort, general weakness and mental change, a pituitary gland tumor was diagnosed with sella magnetic resonance imaging and combined pituitary stimulation test. a pancreas insulinoma, an adrenal gland cortical adenoma and a thyroid adenoma were confirmed by pathology and they were diagnosed with biochemical test, CT scan, percutaneous transhepatic portal vein catheterization with insulin sampling, thyroid sonogram and scintigram. The blood glucose level was normalized after operation. In the 6 months follow up study, she has not presented any symptoms of hypoglycemia so far. Authors present this case briefly with a review of literature.
Adenoma ; Adrenal Glands ; Adrenocortical Adenoma ; Adult ; Autopsy ; Blood Glucose ; Catheterization ; Catheters ; Chromosomes, Human, Pair 11 ; Female ; Follow-Up Studies ; Genes, Tumor Suppressor ; Humans ; Hypoglycemia ; Insulin ; Insulinoma ; Islets of Langerhans ; Magnetic Resonance Imaging ; Multiple Endocrine Neoplasia Type 1* ; Multiple Endocrine Neoplasia* ; Pancreas ; Pathology ; Pituitary Gland ; Portal Vein ; Thyroid Gland ; Thyroid Neoplasms ; Tomography, X-Ray Computed

Multiple endocrine neoplasia type 1 (MEN 1) is the association of neoplastic transformation of parathyroid, pituitary, and pancreatic islet cells. This syndrome is inherited as an autosomal dominant trait. A 38-year-old woman presented with general weakness and mental changes. She had experienced same symptoms 7 years ago, after then her weight gradually increased. Insulinoma was suspected by markedly decreased blood glucose level (20mg/dL) and the increased insulin/glucose ratio (0.43) that sampled in emergency room at the time of mental change. Unusually large pancreatic tail mass and Lt, adrenal gland mass were detected by abdominal CT. Percutaneous transhepatic portal vein catheterization with insulin sampling showed sudden step up of insulin/glucose ratio at the middle portion of pancreas. Measuring of basal pituitary hormones as a screening procedure of MEN showed increased basal prolactin level. Combined pituitary stimulation test showed blunted response of prolactin to TRH and sellar magnetic resonance imaging showed intrasellar mass. Thyroid nodule was palpated on her anterior neck. Thyroid scintigram showed cold nodule, and there was no lymphadenopathy around the nodule by the thyroid sonogram. Fine needle aspiration cytology showed benign hyperplastic follicular cells only. Serum ionized calcium and parathyroid hormone level were normal. Under the impression of MEN type I, the distal pancreatectomy, splenectomy, Lt. thyroid lobectomy and Lt. adrenalectomy was performed at the same time. Histologic examination of the surgically removed tissues revealed pancreas islet cell tumor, adrenal cortical adenoma and thyroid adenoma. Transient hyperglycemia was developed after surgical intervention, but thereafter she never felt any symptoms of hypoglycemia till now and her blood glucose showed completely normal level with oral glucose tolerance tests. We present this case with a review of literature.
Adenoma, Islet Cell ; Adrenal Glands ; Adrenalectomy ; Adrenocortical Adenoma ; Adult ; Biopsy, Fine-Needle ; Blood Glucose ; Calcium ; Catheterization ; Catheters ; Emergency Service, Hospital ; Female ; Glucose Tolerance Test ; Humans ; Hyperglycemia ; Hypoglycemia ; Insulin ; Insulinoma ; Islets of Langerhans ; Lymphatic Diseases ; Magnetic Resonance Imaging ; Male ; Mass Screening ; Multiple Endocrine Neoplasia Type 1* ; Multiple Endocrine Neoplasia* ; Neck ; Pancreas ; Pancreatectomy ; Parathyroid Hormone ; Pituitary Hormones ; Portal Vein ; Prolactin ; Splenectomy ; Thyroid Gland ; Thyroid Neoplasms ; Thyroid Nodule ; Tomography, X-Ray Computed

Multiple endocrine neoplasia-IIb (MEN-IIb) is a rare hereditary autosomal dominant syndrome caused by mutations in the RET proto-oncogene. It's characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), mucosal neuromas, and Marfanoid habitus. Because of the rarity of MEN-IIb and finiteness of clinical cognition, the majority of the patients suffer a delayed diagnosis. A MEN-IIb patient with the lingual mucosal neuromas since childhood was admitted in the Third Xiangya Hospital of Central South University in November, 2018. He had surgical history of mitral valve prolapse and spinal deformity. He was diagnosed with MTC and PHEO at the age of 22 and 28, respectively, and received surgical treatments. Sequencing of RET gene revealed a de novo heterozygous p.M918T mutation in the patient. Being aware of the unique clinical phenotype and screening of RET gene mutation may lead to the early diagnosis and better long-term outcome for MEN-IIb.
Adrenal Gland Neoplasms ; Child ; Genes ; Humans ; Male ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 2a/genetics* ; Multiple Endocrine Neoplasia Type 2b/genetics* ; Mutation ; Proto-Oncogene Proteins c-ret/genetics* ; Thyroid Neoplasms/genetics*

Adrenal Gland Neoplasms ; surgery ; Adrenalectomy ; methods ; Adult ; Female ; Humans ; Kidney ; abnormalities ; Laparoscopy ; Multiple Endocrine Neoplasia Type 2a ; surgery ; Pheochromocytoma ; surgery

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant hereditary neuroendocrine cancer syndrome characterized by medullary thyroid carcinoma, in combination or not with pheochromocytoma, hyperparathyroidism and extra-endocrine features, and two forms subtyped as MEN2A and MEN2B. Based on the correlation between RET proto-oncogene mutation and MEN2 phenotype, MEN2 could be prevented through prenatal diagnosis and preimplantation genetic testing. Integrating the detection of RET mutation with measurement of serum calcitonin, plasma or urinary metanephrine/normetanephrine, and serum parathyroid hormone levels could accurately predict the progression of MEN2, and then facilitating implementation of personalized precision treatment. In addition, increased awareness of MEN2 is needed, which requires participation of physicians, patients/family members, and relevant organizations, supplemented by psychological support, which could promote the comprehensive management of MEN2. The "5P" strategies for MEN2 represents a paradigm of precision medicine, which could effectively avoid or reduce the clinical adverse outcomes, improve the prognosis and quality of life of MEN2 patients.
Humans ; Multiple Endocrine Neoplasia Type 2a/therapy* ; Quality of Life ; Proto-Oncogene Proteins c-ret/genetics* ; Early Detection of Cancer ; Thyroid Neoplasms/genetics* ; Adrenal Gland Neoplasms/therapy*

MEN IIa is the rare disorder consisted of thyroid medullary carcinoma, pheochromocytoma, and hyperparathyroidism. We experienced the case in which 42 year-old male patient with thyroid medullary carcinoma and pheochromocytoma complicated by acute myocardial infarction. During the process of conventional treatment of acute myocardial infarction, paroxysmal hypertension occurred for several times. We sought for the cause of paroxysmal hypertension, and found pheochromocytoma by the radiologic imaging study and the biochemical study and we found the 4X4 cm sized neck mass by palpation. After stabilizing his blood pressure by the use of phenoxybenzamine, we removed the pheochromocytoma in right adrenal gland and the medullary thyroid cancer, by right adrenalectomy and total thyroidectomy respectively. Thereafter, his subjective symptoms and objective signs were improved. We report the case with review of literatures.
Adrenal Glands ; Adrenalectomy ; Adult ; Blood Pressure ; Carcinoma, Medullary ; Humans ; Hyperparathyroidism ; Hypertension ; Male ; Multiple Endocrine Neoplasia Type 2a ; Multiple Endocrine Neoplasia* ; Myocardial Infarction* ; Neck ; Palpation ; Phenoxybenzamine ; Pheochromocytoma ; Thyroid Gland ; Thyroid Neoplasms ; Thyroidectomy

OBJECTIVETo investigate clinical features and anesthetic management of multiple endocrine neoplasia (MEN) associated with pheochromocytoma.

METHODSMedical records of patients who were diagnosed as multiple endocrine neoplasia associated with pheochromocytoma in our hospital from April 1977 to April 2001 were reviewed retrospectively. The demographic data, clinical presentations, family history, biochemical examinations, type of MEN, sequence of different surgical procedures, anesthetic methods and hemodynamics during surgery were analyzed.

RESULTSThirteen cases of MEN associated with pheochromocytoma were investigated, accounting for 6% (13/213) of the pheochromocytoma patients admitted into our hospital. Nine of the 13 patients presented as type IIa MEN (Sipple syndrome), one as type IIb MEN, and three as mixed MEN. Four patients with type IIa MEN had a family history of similar disease. Five patients with other coexisting endocrine disorders first underwent excision of the pheochromocytomas, although only two had hypertensive symptoms at the time of admittance. Seven patients without histories of hypertension received surgical treatment for pheochromocytoma secondly. The excision of pheochromocytoma was performed under general anesthesia in 8 patients and epidural block in 4 patients. Marked hemodynamic fluctuation was recorded in 8 patients. No perioperative death was recorded.

CONCLUSIONPheochromocytoma may be linked to other endocrine disorders during MEN, either as the main clinical presentation or most frequently as an occult tumor. Recognition of this feature of pheochromocytoma is of importance to the improvement of diagnosis and treatment both for pheochromocytoma and MEN.

Adrenal Gland Neoplasms ; diagnosis ; physiopathology ; surgery ; Adrenalectomy ; Adult ; Anesthesia ; methods ; Female ; Hemodynamics ; Humans ; Male ; Middle Aged ; Multiple Endocrine Neoplasia ; physiopathology ; surgery ; Pheochromocytoma ; diagnosis ; physiopathology ; surgery ; Retrospective Studies

Medullary thyroid carcinoma(MTC) is a malignancy of the thyroid C-cells, and it compromises 5-10% of all thyroid cancers. MTC occurs in both sporadic and hereditary types, the latter making up 25% of all MTCs and being compromised of three distinct syndromesmultiple endocrine neoplasia type IIa(MEN IIa), multiple endocrine neoplasia type IIb(MEN IIb), and familial medullary thyroid carcinoma(FMTC). To date, screening for MTC subtype is important for proper diagnosis and treatment. Recently, the authors experienced a case of FMTC. So, we report this case with the review of the literatures.
Diagnosis ; Mass Screening ; Multiple Endocrine Neoplasia ; Thyroid Gland* ; Thyroid Neoplasms*

A 19-year old man presented with acute onset of intractable hypertension with associated dizziness and nausea. Abdominal computed tomography revealed a 7.0cm x 6.27cm x 6.0cm suprarenal mass on the right. The patient was diagnosed to have pheochromocytoma and successfully underwent retroperitoneal laparoscopic adrenalectomy.

Human ; Male ; Young Adult ; Adrenalectomy ; Surgical Procedures, Operative ; Endocrine Surgical Procedures ; Laparoscopy ; Adrenal Gland Neoplasms ; Neoplasms ; Endocrine Gland Neoplasms

OBJECTIVETo study the clinical characteristics and treatment of multiple endocrine neoplasia (MEN) type 2.

METHODSThe clinical features, diagnosis and treatment of from 1980 to 2002 8 cases of multiple endocrine neoplasia type 2 from Peking Union Medical College Hospital were reviewed and analyzed in clinical features, diagnosis and treatment retrospectively.

RESULTSSeven cases were with paroxysmal hypertension, the highest blood pressure was over 200 mm Hg (1 mm Hg = 0.133 kPa). Tumor was found in 3 cases. The diagnosis was confirmed by B-ultrasonography, CT and urine catecholamine test: six cases with MEN 2a 2 with MEN 2b. Six cases were medullary carcinoma of thyroid with or without parathyroidoma or hyperplasia, 1 with multiple mucosal neuromata. One case was pheochromocytoma with marfan's syndrome; 7 cases were with bilateral adrenal tumor. Total resection or resection ectomy was performed on different stages on adrenal gland, parathyroid tubercle. Average follow-up was 9 years. And the feedback was good.

CONCLUSIONThe diagnosis of multiple endocrine neoplasia type 2 depends on endocrine biochemical tests, B-ultrasonography and CT. When the pheochromocytoma and the other tumor exists at the same time, operation is the primary treatment, and it is better to remove the pheochromocytoma at the first.

Adolescent ; Adrenal Gland Neoplasms ; diagnosis ; surgery ; Adrenalectomy ; Adult ; Child ; Female ; Humans ; Male ; Middle Aged ; Multiple Endocrine Neoplasia Type 2a ; diagnosis ; surgery ; Parathyroid Neoplasms ; diagnosis ; surgery ; Parathyroidectomy ; Pheochromocytoma ; diagnosis ; surgery ; Retrospective Studies ; Thyroid Neoplasms ; diagnosis ; surgery ; Thyroidectomy