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*

PURPOSE: Multiple Endocrine Neoplasia Type 2A (MEN 2A) is an autosomal dominant disease characterized by development of the medullary thyroid cancer, adrenal pheochromocytoma and parathyroid hyperplasia. Gennline mutations of RET gene, which cause a susceptibility to MEN 2A syndrome, have been reported in MEN 2A families. The identification of germline mutation in family members with hereditary tumor syndrome makes the presymptomatic diagnosis possible. However, there are only a few reports on the germline mutation of RET gene in Korean patients with MEN 2A. This study was performed to investigate the germline mutation of RET gene in a Korean MEN 2A family. MATERIALS AND METHODS: Blood samples were taken from family members of a MEN 2A family. Mutational status was investigated using single strand conformation polymorphism (SSCP) method, and following direct sequencing. Basal level of calcitonin was measured, and calcium provocation test was done when the result of basal level of calcitonin was equivocal. RESULTS: A missense type germline mutation of RET gene was identified at codon 634 (TGC->TGG) in eight patients from the family. All patients with the germline mutation of RET gene showed elevation of calcitonin level either in basal test or in calcitonin provocation test. CONCLUSION: We identified a germline mutation of RET gene in a family with MEN 2A, and it would make the accurate presymptomatic diagnosis possible.
Calcitonin ; Calcium ; Codon ; Diagnosis ; Germ-Line Mutation ; Humans ; Hyperplasia ; Multiple Endocrine Neoplasia Type 2a* ; Multiple Endocrine Neoplasia* ; Pheochromocytoma ; Thyroid Neoplasms

Diagnostic Errors ; Humans ; Male ; Multiple Endocrine Neoplasia Type 2a/diagnosis* ; Myocarditis/diagnosis*

Multiple endocrine neoplasi~a type 3 is a rare, heritable or sporadic, multiple neoplastic disorder that is charracterized by thyroid medullary careinoma, pheochromocytoma, multiple mucosal neuroma, and marfanoid habitus. The most important disorder of the syndrome is mucosal neuroma that is an early diagnostic sign of multiple endocrine neoplasia type 3. Early diagnosis of MEN type 3 determines prognosis of the disease. We present a case of multiple endocrine neoplasia type 3 of the sporadic pattern in a 27-year-old man who had typical medullary thyroid carcinoma, mucosal neuroma, marfanoid habitus, and megacolon.
Adult ; Early Diagnosis ; Humans ; Male ; Megacolon ; Multiple Endocrine Neoplasia* ; Neuroma* ; Pheochromocytoma ; Prognosis ; Thyroid Gland ; Thyroid Neoplasms

We report a case of multiple endocrine neoplasia (MEN) type 2A and summarize the clinical characteristics, diagnosis and treatment of this condition. The diagnosis of MEN type 2A relies on a comprehensive evaluation of the findings of ultrasound, CT and laboratory examinations, and early diagnosis and treatment is critical to improving the prognosis. Genetic testing of RET is the gold standard for diagnosis of MEN type 2A and 2B. Surgical intervention currently remains the primary choice of treatments of this disease.
Genetic Testing ; Humans ; Multiple Endocrine Neoplasia Type 2a ; diagnosis ; therapy ; Prognosis

PURPOSE: Multiple Endocrine Neoplasm (MEN) is a rare, complex and familial disease. There are MEN syndromes are inherited in an autosomal dominant fashion with high penetrance. The variations in the RET gene play an important role in the MEN syndromes. Recent advances in diagnosis, treatment and genetic study of patients with MEN in Korean are reviewed. METHODS: There were 79 cases and 20 families with MEN syndromes in Korea which based on my experiences and 27 published papers. According to subtypes, there were classified and analyzed. RESULTS: Mean age was 37.9±11.5 years old. Sex ratio was 1:2.6. There were 7 families and 23 cases with MEN type I in Korean. The clinical characteristics of MEN I in Korean are mostly not different from the previous reports except older age (mean=43.2 old-year) at diagnosis. The frequency of the MEN I germ-line mutation in Korean MEN I (80%) families was similar to those reported previously. There were 13 families and 52 cases with MEN type II A in Korean. Three-quarters (9/12) of the Korean patients with MEN IIa had RET mutations on codon 634 of exon 11 (4 patients, C634; 4 patients, C634Y; 1 patient, C634W), but a quarter (3/12) had mutations on codon 618 of exon 10 (2 patients, C618R; 1 patient, C618S). A small medullary carcinoma in a patient of MEN type II A family was detected by genetic mutation screening in SMC. MEN IIb was reported only 4 cases. A case showed a codon 918 mutation (M918T) at exon 16 of RET proto-oncogene. CONCLUSION: Multiple endocrine neoplasia is rare hereditary cancer syndromes expressing a variety of tumors. With understanding of the molecular and clinical pathology of MEN syndromes, genetic screening is now feasible, and treatments have become more individualized based on genetic information of Korean.
Carcinoma, Medullary ; Codon ; Diagnosis ; Exons ; Genetic Testing ; Germ-Line Mutation ; Humans ; Korea ; Male ; Mass Screening ; Multiple Endocrine Neoplasia Type 1 ; Multiple Endocrine Neoplasia Type 2a ; Multiple Endocrine Neoplasia Type 2b ; Multiple Endocrine Neoplasia* ; Neoplastic Syndromes, Hereditary ; Pathology, Clinical ; Penetrance ; Proto-Oncogenes ; Sex Ratio

PURPOSE: Multiple endocrine neoplasia (MEN) syndrome is an inherited, autosomal dominant disease that presents as a combination of several endocrine tumors. Early diagnosis of this syndrome is difficult, because of the nonspecific symptoms and signs. This study analyzed early manifestations and clinical characteristics in patients with MEN syndrome. METHODS: Medical records were retrospectively reviewed and telephone interviews were conducted with 35 patients diagnosed as MEN syndrome at Samsung Medical Center from December 1994 to December 2009. RESULTS: The 35 patients had been diagnosed as MEN1 (n=14), MEN2A (n=19) and MEN2B (n=2). The early manifestations of the 14 MEN1 patients were related with hyperparathyroidism (n=5), pituitary tumor (n=3), and pancreatic endocrine tumor (n=2). There were tumors of the parathyroid gland in all 14 patients, anterior pituitary in eight patients, and pancreatic islet cells in seven patients. Four cases were incidentally detected during the screening examination. Six cases harbored a MEN1 gene mutation. The twenty-one patients diagnosed with MEN2 comprised medullary thyroid cancer (n=20), adrenal pheochromocytoma (n=15), and hyperparathyroidism (n=4). The MTC-related symptoms in the 21 MEN2 patients included neck mass or discomfort in 12 patients and pheochromocytoma-related symptoms in seven patients. Two cases were detected through familial genetic screening test. The RET gene mutationwas detected in 19 cases. CONCLUSION: Early manifestations of MEN syndrome were very different between the types of MEN and the types of its presenting tumor. The early diagnosis and proper management of MEN requires awareness of the clinical characteristics of each expressed tumor and is influenced by genetic screening methods.
Early Diagnosis ; Genetic Testing ; Humans ; Hyperparathyroidism ; Interviews as Topic ; Islets of Langerhans ; Male ; Mass Screening ; Medical Records ; Multiple Endocrine Neoplasia Type 1 ; Multiple Endocrine Neoplasia Type 2a ; Multiple Endocrine Neoplasia Type 2b ; Multiple Endocrine Neoplasia* ; Neck ; Parathyroid Glands ; Pheochromocytoma ; Pituitary Neoplasms ; Retrospective Studies ; Thyroid Neoplasms

PURPOSE: To report a case of multiple endocrine neoplasia type 2B (MEN 2B) diagnosed early based on conjunctival neuroma. CASE SUMMARY: A 15-year-old female presented with red eye and conjunctival mass in both eyes. A 5 x 5 mm-sized yellowish conjunctival mass adjacent to the limbus was observed in her right eye and a 3 x 3 mm-sized mass in her left eye. Excisional biopsy was performed and the patient was diagnosed with conjunctival neuroma. Other abnormalities were not found on the ophthalmic examination, but she had characteristic appearances such as thickened upper eyelid, mild telecanthus and nodular edematous upper lip. She was transferred to the Endocrinology Department for systemic evaluation in consideration of multiple endocrine neoplasia. Abdominal pelvic computed tomography and a 24-hr urine collection analysis showed asymptomatic pheochromocytoma. Thyroid ultrasonography and fine-needle biopsy revealed medullary thyroid carcinoma. Finally, MEN type 2B was confirmed by using a RET mutation gene test. CONCLUSIONS: Thyroid carcinoma can occur in MEN 2B in combination with pheochromocytoma and mucosal neuroma. Thickened corneal nerve fiber and perilimbal conjunctival mass have been regarded as ophthalmologic characteristics of MEN 2B and may be accompanied by telecanthus, thickened upper eyelid and marfanoid habitus. A biopsy of the mass is required for pathological diagnosis. Medullary thyroid carcinoma is the most significant clinical component of MEN 2B syndrome and thyroidectomy is indicated. MEN 2B may be a rare syndrome, but its consequences are serious and the ophthalmologist may play a lifesaving role in its diagnosis.
Adolescent ; Biopsy ; Biopsy, Fine-Needle ; Diagnosis ; Early Diagnosis* ; Endocrinology ; Eyelids ; Female ; Humans ; Lip ; Male ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 2b* ; Nerve Fibers ; Neuroma* ; Pheochromocytoma ; Thyroid Gland ; Thyroid Neoplasms ; Thyroidectomy ; Ultrasonography ; Urine Specimen Collection

PURPOSE: We present our experiences of pancreatic insulinoma among the functioning neuroendocrine neoplasm of the pancreas, to review the natural history and suggest proper management. METHODS: From June 1990 to August 2006, patients with diagnosis of pancreatic insulinoma were retrospectively reviewed. RESULTS: Thirteen patients (5 men and 8 women) with median age of 42 years (range, 12~68 years) were investigated. One patient (12%) with pancreatic insulinoma was MEN 1. Intraoperative ultrasound scan (sensitivity, 88%) was the most powerful modality for tumor localization. Sixteen neoplasms with median tumor size 1 cm (range, 0~3 cm) were found. Ten neoplasm (62%) were located in the heads/ necks of the pancreas. Six neoplasm (38%) were located in the tails. Five neoplasm (31%) were located around the neck areas near the SMV or PV. Twelve patients (92%) underwent enucleation, and two patients (15%) underwent distal pancreatectomy with splenectomy. 100% of patients with pancreatic insulinoma have survived and the overall disease free 10-year survival was found to be about 85.7%. CONCLUSION: Exact localization of tumor by intraoperative ultrasound and effective surgical removal can be significantly beneficial for good prognosis.
Diagnosis ; Humans ; Insulinoma* ; Male ; Multiple Endocrine Neoplasia Type 1 ; Natural History ; Neck ; Pancreas ; Pancreatectomy ; Prognosis ; Retrospective Studies ; Splenectomy ; Ultrasonography

PURPOSE: Chronic nonbacterial prostatitis represents a major portion of all the chronic prostatitis syndromes. Yet its pathogenesis is not definitive. Therefore, the treatment of chronic nonbacterial prostatitis in men is unclear. In this study, the patients with chronic nonbacterial prostatitis, especially those with complaints of voiding difficulty, were analyzed with conducting a urodynamic study to search for the pathophysiology and the effective treatments. MATERIALS AND METHODS: Sixty men (mean age: 38.9+/-8.3 years) diagnosed with chronic nonbacterial prostatitis were included in this study after excluding the patients with prostatic infection via the standard bacteriological methods. Thereafter, the patients were evaluated urodynamically, including measurements by uroflowmetry, cystometry and a pressure flow study. RESULTS: According to their symptoms, 37 (61.7%) patients complained of frequency, 28 (46.7%) patients complained of a weak stream, 10 (16.7%) patients complained about urgency, and 5 (8.3%) patients complained about pelvic pain. Of the 60 patients, detrusor underactivity (DU), detrusor overactivity (DO), and bladder outlet obstruction (BOO) were found in 19 (31.7%), 12 (20.0%), and 11 (18.3%) patients respectively; there were equivocal findings in 30.3% of patients. CONCLUSIONS: This study demonstrated that 42 (70%) patients suffering with chronic nonbacterial prostatitis had different urodynamically abnormal patterns such as DU, DO and BOO. A urodynamic study may to be useful in establishing a correct diagnosis and for launching the appropriate therapy for the selected group of patients who were not helped by general treatments.
Diagnosis ; Humans ; Male ; Multiple Endocrine Neoplasia Type 1 ; Pelvic Pain ; Prostatitis* ; Rivers ; Urinary Bladder Neck Obstruction ; Urodynamics*