Journal of Clinical and Translational Endocrinology: Case Reports最新文献

Pancreatic neuroendocrine tumors (PNETs) are rare forms of pancreatic malignancies which are classified according to functionality. Coexistence of two functional PNETs is extremely rare, but case reports are encountered in the literature. We present a 23-year-old male patient who was referred for recurrent hypoglycemic symptoms while investigating for pituitary adenoma. In addition to overt hypoglycemia, the patient's laboratory examination was compatible with primary hyperparathyroidism, hyperprolactinemia and acromegaly. Prolonged fasting test revealed hypoglycemia due to endogenous hyperinsulinism. Multiple hypodense mass lesions in the tail and body of pancreas were detected on the computed tomography scan. After surgical excision of these lesions, histopathologic examination of the specimens showed a grade 1 NET, which was positive for glucagon and chromogranin, negative for insulin. Histopathologic and immunostaining evaluation suggested that there were two pancreatic NETs with different characteristics. The patient was diagnosed as multiple endocrine neoplasia type-1 (MEN-1) syndrome due to clinical coexistence of the all 3 components, family history and genetic confirmation (frameshift mutation in MEN1 gene due to pathogenic deletion). After the operation, hypoglycemic symptoms were ameliorated. After 9 years of lost to follow-up period, the patient admitted to the emergency Department with complaints of nausea, vomiting and abdominal pain. In the evaluation of patient, recurrences of hyperparathyroidism, pituitary adenoma and PNET were observed. Coexistence of insulinoma and glucagonoma is a rare condition and the underlying physiopathological mechanisms have not been fully understood. However, it is important to note that two simultaneous functional tumors may coexist in PNETs associated with MEN-1 syndrome.

Background

Gall stone and alcohol are the two most common causes of pancreatitis. Other etiologies include trauma, post endoscopic retrograde cholangiopancreatography (ERCP), bacterial, viral, fungal, and parasitic infections, hypertriglyceridemia, medications, and scorpion bite to name a few. Hypercalcemia is a rare cause of acute pancreatitis. Hypercalcemia can be due to primary hyperparathyroidism (PHPT) manifested by raised parathyroid hormone and serum calcium level. In addition acute pancreatitis is a rare presenting complain of PHPT. PHPT can be asymptomatic or present with symptoms of bone pain, kidney stones, nephrocalcinosis, renal failure, peptic ulcer disease, accelerated atherosclerotic heart disease, hypertension and proximal muscle weakness. Osteitis fibrosa cystica is the term for radiologically visible characteristic feature of skeletal involvement.

Case presentation

We report a case of 20 years old male with chief complaint of epigastric and left hypochondrium pain associated with vomiting for two months. Abdominal pain was gradual in onset, radiating to back, and progressive. He also had complains of constipation, blood tinged feces and pain during defecation. Initial lab tests were significant for increased amylase, lipase and a diagnosis of acute pancreatitis was made which was confirmed by CT scan. After ruling out the common etiologies of acute pancreatitis, further investigations for uncommon etiologies revealed increased IgG-4 values suggesting autoimmune pancreatitis. However further investigations were done and it did not meet the diagnostic criteria for autoimmune pancreatitis. Covid-19 IgG antibodies were positive, however patient did not have any other symptoms of Covid-19 and PCR Covid-19 test was negative. Although Covid-19 can cause pancreatitis, given the ongoing pandemic, he might have been asymptomatically infected with Covid-19 and developed immunity. Therefore we did not believe Covid-19 to be the cause of his pancreatitis. Thus a search for other rare etiologies was initiated which revealed serum calcium of 15 mg/dL. Serum parathyroid hormone and urinary calcium were increased several times suggesting primary hyperparathyroidism. DEXA scan revealed osteoporosis.

Conclusion

Hypercalcemia is one of the rare etiologies of pancreatitis. Thus it should be considered as one of the etiologies of acute pancreatitis after ruling out the more common ones. Secondly, this Case report highlights acute pancreatitis as one of the rare presenting complain of primary hyperparathyroidism which may be associated with several times increased IgG-4 values. Covid-19 has been associated with a number of presenting complains and can cause acute pancreatitis, amid the ongoing pandemic physicians should exercise caution to avoid spurious association of Covid-19 with acute pancreatitis or other presenting complains.

Introduction

We present a patient with a non-functional pituitary macroadenoma who developed diabetes insipidus after initiation of thyroid hormone and cortisol replacement for central hypothyroidism and adrenal insufficiency.

Case description

A 61-year-old man with a history of a 1.7cm non-functional pituitary macroadenoma that was stable over a five-year period was found to have an interval growth of 2.1cm on annual follow-up. He was in a good state of health, but laboratory findings revealed central hypothyroidism and central adrenal insufficiency. He was started on glucocorticoid and thyroid hormone replacement with subsequent development of diabetes insipidus. A follow-up MRI demonstrated apoplexy with decrease in tumor size. Pituitary surgery was cancelled.

Conclusion

Subclinical apoplexy may occur in a pituitary macroadenoma with pituitary hormone deficiency as the only indication of an occult process. Treating underlying glucocorticoid or thyroid deficiency may unmask diabetes insipidus. Alternative diagnosis should be investigated in a patient with a pituitary macroadenoma who suddenly develops diabetes insipidus.

Precocious puberty refers to appearance of secondary sexual characteristics, increased growth rate and reproductive capacity before 8 years in girls, and 9 years in boys. The etiology can be diverse, either central activation of hypothalamus-pituitary gonadal axis or by endogenous production or exogenous administration of sex steroids. Peripheral precocious puberty is less common and Leydig-Sertoli cell tumors comprise 1–2% of the pediatric ovarian malignancies. (1) These tumors commonly present in the second or third decade of life but can present as early as 2-years of age.(2).

We describe a case of precocious puberty caused by ovarian Sertoli-Leydig cancer in a young girl with no pre-existing medical issues. The 2-year-old patient was referred from Saint Martin to the Pediatric endocrinology for evaluation of pubic hair and breast development which started 3-month prior to presentation. On exam, the patient was noted to have abdominal prominence which prompted obtaining abdominal imaging which showed an ovarian tumor which was subsequently removed.

Aphasia is an uncommon presentation of neuroglycopaenia. We herein report a case of a 55-year-old man with type 2 diabetes mellitus with neuroglycopaenia presenting with speech difficulties that recovered over an unusually prolonged period. The clinical course and laboratory results are presented. The patient's symptoms persisted for 48 hours despite correction of hypoglycaemia but he made significant recovery. This case highlights an unusual presentation of neuroglycopaenia manifesting mainly with extended speech deficits. The delayed recovery despite correction of hypoglycaemia in this patient shows that Whipple's Triad may not be reliably applied in patients treated with long-acting insulin secretagogues or those with neuronal vulnerability to hypoglycaemia.

Bilateral incidental adrenal nodules represent 10–23% of all incidental adrenal nodules. The general approach to these nodules follows the same premise as for unilateral incidental adrenal nodules however there are features unique to bilateral nodules including the differential diagnosis, the diagnostic approach as well as the management. The majority (75%) of bilateral truly incidental adrenal nodules are benign nonfunctioning adenomas however bilateral lesions are more likely to display hormone excess than unilateral lesions with subclinical Cushing's being the most prevalent abnormality followed by Cushing's syndrome, Hyperaldosteronism as well as Congenital Adrenal Hyperplasia (CAH). Though bilateral pheochromocytomas are less common, a patient presenting with bilateral pheochromocytomas will usually have a germline pathogenic variant and be syndromic. The overall diagnostic approach to bilateral nodules involves determining based on the patients' clinical history and examination as well as the imaging phenotype of each lesion whether the lesions could represent a malignancy, exhibit hormonal excess and whether they could represent a familial syndrome. In patients with bilateral infiltrative lesions, adrenal insufficiency needs to be excluded. In patients with bilateral myelolipomas, screening for CAH should be considered. We present an illustrative case of a patient with incidental bilateral nodules and review the systematic approach to the patient including the key radiographic diagnostic features of adrenal nodules (unenhanced CT attenuation, adrenal washout and chemical shift MRI) to best determine the etiology of these lesions. An overview of the management of patients with such bilateral adrenal nodules is provided with a particular focus on pheochromocytomas.

Papillary thyroid cancer is the most common type of differentiated thyroid cancer (DTC) and in most cases, disease is localized to the neck and remission of disease is common. Though distant metastasis of DTC is unusual; involved sites are more often the lungs and bones, while less common sites include the liver and kidney. No case of metastasis to both intraocular choroid and the pituitary gland has previously been reported. We describe a case of a 58-year-old man who presented with multifocal papillary thyroid carcinoma (PTC) with cervical node metastasis. According to risk stratifications in DTC, the patient stratified as low risk of recurrence. Five years after initial presentation, he was found to have mediastinal lymph node metastasis. Fifteen years post diagnosis, his PTC metastasized to his liver, bone, lung, pituitary gland, orbital choroid and choroid plexus. Remarkably, the only symptom the patient developed as a result of this metastasis was alteration in his vision, which was treated with bevacizumab. Despite initial improvement, he developed ptosis and third nerve symptoms. His pituitary metastasis was treated with Cyber-Knife Surgery and his systemic metastasis was treated with the tyrosine kinase inhibitor (TKI) lenvantinib, resulting in new improvement of his vision. Lenvantinib treatment led to a very marked decrease in the size of his intraocular and choroid plexus lesions and stabilization of his pituitary mass size. The patient developed central hypoadrenalism that required treatment with glucocorticoid replacement.

A review of literature for the past 5 decades revealed that metastasis of DTC to the orbital choroid and the pituitary gland have been reported in 17 and 16 cases, respectively. This report is unique as it presents the first case of metastatic PTC to both the intraocular choroid and the pituitary gland. Furthermore, no prior study reported simultaneous DTC metastasis to intraocular choroid and the ventricular choroid. This case highlights that despite their rarity, intraocular and pituitary metastasis of DTC should be considered as potential causes of atypical symptoms such as visual changes or hypopituitarism. Finally, use of TKI therapy for DTC with metastasis to the intraocular choroid and pituitary gland can improve the disease course.