Case Reports in Endocrinology最新文献

Natural desiccated thyroid (NDT) is a treatment option for many patients with hypothyroidism, but some still exhibit symptoms despite achievement of normal levels of thyroid stimulating hormone (TSH). In this retrospective case series, 13 patients with hypothyroid symptoms were switched from NDT to a liquid formulation of levothyroxine (LT4; Tirosint®-SOL). Laboratory values ≥4 weeks following the switch showed a decrease in TSH levels, maintenance of free triiodothyronine (fT3) levels, and significant increases in free thyroxine (fT4) levels. Patients reported good tolerability, and case summaries are presented for four patients. In summary, this small retrospective case series showed that patients who still had hypothyroid symptoms despite use of NDT can respond well to oral LT4 liquid formulation, including patients who are intolerant of gluten and/or lactose or on hormone replacement therapy or iron supplementation.

Introduction: Cystic fibrosis transmembrane regulator (CFTR) modulator therapies improve respiratory function and glycaemic control in patients with cystic fibrosis (CF). The direct effect of CFTR modulator therapies on pancreatic function in patients without preexisting diabetes remains unclear. Case Presentation. An 18-year-old female with CF caused by F508del/F508del mutation, who had no diabetes, developed postprandial hypoglycaemias 6 months after initiation of elexacaftor, tezacaftor, and ivacaftor combination therapy (ETI). Symptoms were persisted after brief discontinuation of ETI, but her symptoms and time-in-hypoglycaemia had improved remarkably by avoiding high glycaemic index-foods. Discussion. This case of hypoglycaemia associated with CFTR modulator therapy in a patient without preexisting diabetes suggests that CFTR modulator therapy has the potential to directly affect glucose homeostasis. There might be an improvement in insulin secretion as well as a reduction in systemic insulin resistance.

Conclusion: Treatment of CF patients without diabetes with CFTR modulator therapies can cause recurrent hypoglycaemic episodes which resolve with dietary measures.

Background: Parathyroid carcinoma accounts for <1% of cases of primary hyperparathyroidism (PHPT). This rare condition may present with severe hypercalcemia and bone complications such as osteoclastomas and pathologic fractures. Here, we present a rare condition of panhypopituitarism resulting from an osteoclastoma in the sphenoid bone that invaded the pituitary fossa due to parathyroid carcinoma. Case Report. A 47-year-old woman previously diagnosed with PHPT underwent a parathyroidectomy 6 years earlier, with histological examination indicating a parathyroid adenoma. After surgery, she continued to exhibit high serum parathyroid hormone (PTH) and calcium levels, with the development of bone pain and spontaneous fractures. Imaging exams showed a large osteoclastoma of the sphenoid bone, invading the pituitary fossa, causing hypopituitarism. A new parathyroidectomy was performed, with histological confirmation of parathyroid carcinoma and regression of the osteoclastoma.

Conclusion: This case illustrates an unusual presentation of parathyroid carcinoma, in which an osteoclastoma of the sphenoid bone caused hypopituitarism.

Thymic carcinoid tumours, especially in the context of multiple endocrine neoplasia type 1 (MEN 1), present significant clinical challenges due to their rarity and aggressive nature. This case report describes a complex patient with MEN 1, who suffered from multiple manifestations of the disease, including thymic carcinoid. The tumour was initially resected and treated with adjuvant radiotherapy. Due to slow progression over the years, the tumour was treated with two lines of chemotherapy before the patient succumbed to progressive disease. There is currently limited evidence favoring any specific medical treatment for thymic carcinoid.

Introduction: A paraganglioma (PGL) is a tumour derived from extra-adrenal chromaffin cells of the sympathetic paravertebral ganglia of the thorax, abdomen, and pelvis. Cardiovascular manifestations predominate but neurological symptoms like seizures can occur requiring a high index of suspicion for prompt diagnosis and treatment. Case Description. A 14-year-old girl was referred to the paediatric neurology unit for recurrent headaches of one-year duration, vomiting of 2 months duration, and an episode of generalized tonic-clonic seizures, 2 weeks prior to presentation. There was an associated history of impaired vision, palpitations, diaphoresis, and easy fatigability. Her blood pressure ranged from 150/101 to 160/120 mmHg. The brain CT scan was normal. ECG showed left ventricular hypertrophy. Abdominal USS revealed a right para-aortic mass necessitating 24-hour urine normetanephrine which was markedly elevated-1695.34 mcg/24 h (100-500). An abdominal CT scan confirmed a paraganglioma in the right para-aortic region. A multidisciplinary team consisting of paediatric endocrinologists, radiologists, anaesthetists, paediatric and cardiothoracic surgeons, and the intensive care unit (ICU) team was involved in the peri and postoperative management of the child. Intraoperative challenges were hypertension and hypotension (following tumour excision). She was nursed in the ICU for 48 hours. Histology results confirmed paraganglioma. Postoperative urine normetanephrines done a month after surgery had reverted to normal. Her blood pressure has remained normal 6 months after surgery, and no other symptoms have recurred.

Conclusion: In evaluating aetiology of childhood hypertension, endocrine causes must be considered though they are rare. The occurrence of paraganglioma is uncommon and can present in unusual ways such as seizures. Measurement of blood pressure in children is advocated as part of routine health care. Clinicians must explore the aetiology of seizures and not merely control them with anticonvulsant therapy.

Acromegaly and gigantism are hormonal disorders which develop as a consequence of chronic growth hormone hypersecretion. The prefix pseudo- is used to describe a certain clinical condition without a clearly proven characteristic of pathophysiological mechanism and basic biochemical features; pseudoacromegaly or acromegaloidism match the definition from above. In this case reports, we will try to provide a concise overview of diagnostic evaluation of acromegaloid physical appearance, while discussing two cases of patients who have similar clinical acromegaloid features as the first sign of the disease but have completely different etiologic backgrounds of their acromegalic appearance. The first case is of a 57-year-old male who presented with a marked acral growth and coarse facial features, but the diagnosis of secondary amyloidosis caused by multiple myeloma was confirmed just after biopsy of tongue and buccal mucosa. The second case is that of a 63-year-old male with an acromegaloid appearance caused by ectopic secretion of GH secreting lung carcinoma. The early diagnosis of ectopic acromegaly and pseudoacromegaly is still a challenging process. The key task is to confirm the GH axis abnormalities and establish the underlying disease, as a crucial step for faster treatment and need to avoid unnecessary therapeutic procedures to decreased mortality and improved quality of life.

A subset of patients with differentiated thyroid carcinoma develop radioiodine refractory (RAIR) incurable disease, which typically has a poor prognosis. The multitargeted tyrosine kinase inhibitor lenvatinib has demonstrated significant improvements in progression-free survival in RAIR thyroid cancers compared to placebos. However, in the phase III SELECT trial of the drug in thyroid cancer, 5.4% of patients on lenvatinib experienced arterial thromboembolic events, with 2.7% experiencing severe grade ≥3 toxicities associated with arterial vascular events. This case study reports a patient with metastatic poorly differentiated follicular thyroid cancer who developed significant obstructive coronary artery disease following initiation of lenvatinib treatment, despite no predisposing cardiovascular risk factors apart from a remote smoking history. The possibility of developing coronary or peripheral artery disease should be considered in patients who are on targeted therapies, such as lenvatinib, even in the absence of traditional cardiovascular risk factors. In addition, baseline cardiac risk assessment and early treatment should be pursued to minimize interruptions to potentially lifesaving cancer therapy.

Pituitary metastases (PM) are extremely uncommon, accounting for less than 1% of all intracranial metastases. PM of an undiagnosed malignancy can commonly present with symptoms of hormonal deficiencies, central diabetes insipidus, and/or visual symptoms. Lung and breast malignancies are the most common cancers associated with PM. Despite advances in diagnostic and therapeutic options, the prognosis remains poor and is influenced by primary malignancy and treatment methods. We report a case of a patient with PM from lung cancer who had polyuria, polydipsia, and nonspecific symptoms. A full evaluation confirmed central diabetes insipidus, hypogonadism, and metastatic lung cancer. We also discuss the current literature on PM diagnosis and management, emphasizing the need for a comprehensive evaluation of all available data. This is the first case of PM reported from Syria, to our knowledge.

Hypoglycemia is concerning for neurological complications in infants and children. Determining the cause of hypoglycemia is essential in providing appropriate treatment. Hyperinsulinism and growth hormone deficiency are known causes of hypoglycemia but are not commonly found together. We report a 4-month-old boy who presented with severe hypoglycemia and was found to have both hyperinsulinism and growth hormone deficiency. Treatment with both recombinant human growth hormone and diazoxide led to blood glucose normalization. Subsequently, he was found to have a genetic diagnosis of 20p11.22p11.21 deletion. 20p11 deletions have been associated with hypopituitarism, most commonly seen in growth hormone deficiency causing hypoglycemia. This case is one of a few to report hyperinsulinism as a manifestation of this deletion.

Background: Pituitary apoplexy (PA) is a clinical syndrome of pituitary hemorrhage or infarction and can result in hypopituitarism as well as compression of adjacent brain structures. Visual loss occurs frequently, as a result of tumor expansion and compression of the optic chiasm and optic nerves. Additionally, with pituitary tumor invasion into the fixed space of the cavernous sinus, compression of multiple cranial nerves can result in cavernous sinus syndrome (CSS). We describe a case of an undiagnosed pituitary tumor manifesting as abrupt PA with CSS during hemodialysis (HD). Clinical Case. A 77-year-old male with end-stage renal disease (ESRD) presented with acute onset of severe headache, decreased vision, ophthalmoplegia of the left eye, and hypotension during HD. MRI of the brain revealed a 2.5 cm pituitary adenoma with acute hemorrhage, compression of the left prechiasmatic optic nerve, and invasion into the left cavernous sinus (CS). The hormonal profile was consistent with multiple pituitary hormone deficiencies. The patient was treated with glucocorticoids and underwent transsphenoidal resection of the tumor. He had an uneventful postoperative hospital course, and his left visual acuity stabilized, although there was no immediate improvement in his other ocular symptoms.

Conclusion: Our case highlights a rare constellation of a pituitary adenoma with CS invasion complicated by PA and CSS during HD. The pathophysiology of PA is not well understood, and there are very limited data regarding PA in patients with end-stage renal disease (ESRD) on HD. Prompt recognition of PA in a patient presenting with CSS, particularly in the HD setting, is essential to ensure appropriate care is provided for this medical emergency.