Somatostatinomas are rare neuroendocrine tumours, mostly located in the pancreas or duodenum, with an estimated incidence of 1 in 40 million. Duodenal somatostatinomas (DSs) are usually found in association with neurofibromatosis type 1 (NF1), tuberous sclerosis and Von Hippel-Lindau syndrome. Gastrointestinal stromal tumours (GIST) have also been described in NF1, but the association with somatostatinoma is very uncommon. We report the case of a patient with NF1 who presented with obstructive jaundice due to multiple firm nodules around the ampulla of Vater. A pancreaticoduodenectomy was performed and revealed a 1 cm duodenal/ampullary mass which stained positive for somatostatin, together with a GIST also found on the duodenal wall. Despite its rarity, ampullary somatostatinomas should be considered in the differential diagnosis of biliary tract dilation in patients with NF1.
Adrenal myelolipomas are relatively rare tumours composed of adipocytes and myeloid cells that arise in response to chronic adrenocorticotropic hormone stimulation. We present the case of bilateral adrenal myelolipomas in a 39-year-old man with untreated congenital adrenal hyperplasia (CAH) presenting with acute adrenal insufficiency and severe virilisation. Phenotypically, he is a man of short stature and has hyperpigmentation of the skin, gingiva and nail beds. Genital examination revealed micropenis and no palpable testes. Laboratory testing was consistent with primary adrenal insufficiency. An abdominal CT showed bilateral adrenal myelolipomas. An MRI of the pelvis revealed female reproductive organs. Chromosome study showed a karyotype of 46,XX. A CYP21A2 gene mutation confirmed diagnosis of CAH with 21-hydroxylase deficiency. The patient was treated with stress dose corticosteroids, subsequently tapered to physiological doses. We review previously reported cases and discussed diagnosis and treatment, including hormonal therapy and psychological approach.
Background: Glucagonomas are pancreatic tumors arising from the islets cell of Langerhans that over secrete glucagon. Necrolytic migratory erythema (NME) is an important feature for the recognition of glucagonomas. Glucagonomas occurring in MEN1 is infrequent and seen in less than 3% of all glucagonomas. Clinical Case: A 51-year-old male presented to the clinic multiple visits for rash affecting the legs and genital area of two months. His medical history include type 2 DM and HT. The rash was attributed to subacute eczema and treated with topical steroids but showed no improvement. The skin eruption initially appeared on lower extremities progressed to trunk, and face. The skin lesions were associated with weight loss and stomatitis. On physical examination, skin showed ill-defined erythematous plaque exhibiting annular pattern, scale, and erosion on all extremities and perioral area. When the skin lesions healed, the new cutaneous eruptions occurred. Laboratory testing revealed plasma glucose of 185 mg/dL. The skin biopsy reported vacuolated keratinocytes in the epidermis with eosinophil cytoplasm, compatible with NME leading to further workup for pancreatic tumor. CT abdomen revealed tumor mass 9.6x6 cm at the pancreatic tail and multiple nodules in the liver. Somatostatin receptor scintigraphy showed an area of increased radiotracer uptake at the tail of the pancreas and multiple liver nodules corresponding to the previous CT scan. Serum glucagon was 923 pg/mL, confirming the diagnosis for glucagonoma. The patient was treated with distal pancreatectomy, and enucleation of liver metastases. Histopathological reported grade 2 well-differentiated NET. During the admission, the patient was found to have a parathyroid level of 79.3 pg/mL and increased uptake in the left and right lower regions of the thyroid gland from parathyroid MIBI scan, indicating hyperfunctioning parathyroid glands. All pituitary hormones were within normal ranges and no pituitary tumor was detected by the MRI brain. BMD showed osteoporosis at the lumbar spine and left femoral neck. The patient was referred to general surgery for subtotal parathyroidectomy. Pathological of resected parathyroid glands reported parathyroid hyperplasia. Postoperative PTH level and calcium were returned to normal range. Genetic testing focused on MEN1 gene, and the mutation was identified. After four months follow up plasma glucagon decreased to 425 pg/dL, patient had complete resolution of the cutaneous lesions. Conclusion: Glucagonomas are a rare pancreatic tumors and often difficult to recognize. Chronic eczema may misdiagnose for NME and delay diagnosis. NME can be challenging for physicians to recognize NME which is an important key to diagnose glucagonoma. Even though MEN1 association with glucagonoma is infrequent, awareness of such is important to allow appropriate testing for MEN1 in patients with glucagonoma.
Background: Unlike nonfunctioning gonadotroph pituitary adenomas, functioning gonadotroph pituitary adenomas (FGA) are an uncommon type of pituitary tumors that secrete biologically active gonadotropins (LH, FSH, or both). Clinical Case: A 23-year-old man with no previous medical history presented to the emergency department with three months history of progressive decreased vision and decreased libido. He denied headache, seizure, erectile dysfunction, or weakness. On physical examination, his visual acuity was significantly reduced on the right eye and was only able to perceive light. He had a visual field narrowing on the left eye. Gynecomastia was noted bilaterally and testicles were found to be enlarged (Orchidometer >25 mL). Complete blood count was significant for hemoglobin of 19.2 g/dL (N, 13.7-17.5 g/dL), and hematocrit of 57.0% (N, 40.1-51.0%). Pituitary function tests were as follow: FSH >200.0 mIU/mL (N, 1.5-12.4 mIU/mL), LH 17.0 mIU/mL (N, 1.7-8.6 mIU/mL), total testosterone 41.3 nmol/L (N, 8.6-29.0 nmol/L), free testosterone 1.263 nmol/L (N, 0.148-0.718 nmol/L), and bioavailable testosterone 29.609 (N, 2.110-8.920 nmol/L). Prolactin, TSH, GH, and ACTH were all within the normal range. Magnetic resonance imaging (MRI) showed a sellar mass involving the planum sphenoidal measuring 5.8 x 5.2 x 5.6 cm with optic chiasm displaced superiorly, in addition, subfalcine herniation with mild hydrocephalus was also noted. The patient underwent orbitozygomatic approach resection of the pituitary tumor. Histological examination was consistent with a pituitary adenoma. Cells stained positive for transcription factor steroidogenic factor 1 (SF 1), FSH, LH, and alpha-subunit consistent with a gonadotroph adenoma. They were negative for transcription factor Pit 1 stain and the remaining pituitary hormones including ACTH, GH, prolactin, and TSH stain. Postsurgical hormone assessment showed a significant decline in FSH and LH to 2.3 and 0.4 mIU/mL, respectively and testosterone level decreased to < 0.087 nmol/L on postoperative day 18. The patient’s vision improved postoperatively prior to discharge but he lost follow up thereafter. Conclusion: Most patients with functioning gonadotroph pituitary adenoma present with large tumors that are detected based on the occurrence of symptoms of compression that result from the enlarging sellar mass. Most patients, particularly men and postmenopausal women, do not develop symptoms of hormone excess and the lack of symptomatology results in delay in diagnosis. Our patients presented with significant polycythemia which resulted from excess testosterone and could have prompted earlier tumor detection if he had presented in an earlier stage. The incidence of polycythemia in male patients with functioning gonadotroph pituitary adenoma has previously been described in the literature in a few case reports.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.