Case Reports in Endocrinology最新文献

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes that presents in infancy and is characterized by intrauterine growth restriction and hyperglycemia without ketones on urinalysis. Patients are treated with insulin until remission, usually within the first year. Relapse to a permanent state may occur later in life, with a mean age of 14 years. The most common cause of TNDM is a chromosome 6q24 mutation that affects pancreatic β-cell function. Reports of relapse have been limited. We describe a case of an adolescent female with TNDM due to 6q24 hypomethylation who relapsed at 15 years of age with severe dental disease as the presenting sign.

Background: Thyroid disorders commonly affect the cardiovascular system. Thyrotoxicosis leading to pulmonary hypertension has been increasingly reported during recent years. Thyroid dysfunction affects the lipid metabolism, and thyrotoxicosis can be associated with low lipid levels. Thyrotoxicosis presenting with right ventricular dysfunction is rare, and only few cases had been reported. Case Presentation. A 53-year-old woman presented with progressive shortness of breath and swelling of body for four months. Examination showed generalized oedema and a systolic murmur over the left sternal border. Transthoracic echocardiography confirmed pulmonary hypertension with tricuspid regurgitation. Investigations revealed thyrotoxicosis and very low cholesterol levels. Diagnosis of Graves' disease was confirmed with detection of thyrotropin receptor antibodies. Pulmonary pressure was normalized six months after antithyroid therapy.

Conclusion: Thyrotoxicosis is a recognized cause of reversible pulmonary hypertension and acquired hypocholesterolemia. However, most clinicians are not aware of these associations. This case illustrates the importance of assessing thyroid function in patients presenting with pulmonary hypertension.

Background: While the endocrine manifestations of pseudohypoparathyroidism are well known, less is known about the associated brain and spine abnormalities. These abnormalities may present with nonspecific symptoms in the paediatric population, and lack of awareness to these uncommon manifestations of the disease may result in a delay in necessary intervention. Case Presentation. We herein present a case of known pseudohypoparathyroidism type 1a who presented initially with minor head injury. She later developed progressive worsening headache, increased irritability, and vomiting. Repeated imaging showed hydrocephalus and Chiari malformation type 1 necessitating emergency craniectomy.

Conclusion: Growth hormone deficiency, a common manifestation of pseudohypoparathyroidism type 1a, results in underdevelopment of the posterior cranial fossa and may account for the higher incidence of Chiari malformation in this group of patients. Other associated neurological features reported in pseudohypoparathyroidism type 1a include spinal stenosis, syringomyelia, and craniosynostosis. While less commonly seen, awareness to these associations is important in order to optimize the multidisciplinary care to this group of patients.

Since 2015, the cancer treatment lenvatinib has been used for patients with advanced radioactive iodine- (RAI-) refractory thyroid differentiated cancer; however, the drug's long-term effects have not been fully investigated. We report three cases in which lenvatinib treatment initially improved the patients' conditions, although they all died approximately 2 months after leukocytosis due to very aggressive disease progression with anaplastic thyroid carcinoma transformation. Serum interleukin-6 (IL-6) was elevated in all three cases, and granulocyte-colony stimulating factor (G-CSF) was elevated in two cases. The patients had a similar clinical course, with multiorgan metastasis and aggressive disease progression. Even with advanced cancer, lenvatinib has provided control of the disease. However, as long-term use of lenvatinib grows, it is possible that similar cases will increase, and we report our findings as an alert to other clinicians.

The advent of immune checkpoint inhibitors has significantly improved the prognosis of patients with advanced malignancies. As we begin to understand these medications, multiple immune-related adverse effects (irAEs) have been found with these drugs, including endocrinopathies. Understanding the treatment-related adverse events of these medications is critical for clinical practice. Thyroid-related adverse effects usually occur within the first three months of treatment and rarely after eight months. It can manifest as an early onset of thyrotoxicosis, which is largely asymptomatic, followed by a rapid transition to hypothyroidism, requiring long-term levothyroxine substitution. We present a case in which our patient was found unresponsive, hypothermic, and with respiratory failure almost after completing a year of treatment with pembrolizumab. He had an initial mild elevation in thyroid-stimulating hormone (TSH) of 6.52, although with normal free thyroxine (T4) of 1.06, in his first three months of starting treatment which then rapidly progressed to a true myxedema coma. The infrequency with which this occurs makes it a diagnostic challenge.

Type IV renal tubular acidosis (RTA) is the only RTA characterized by hyperkalemia, and it is caused by a true aldosterone deficiency or renal tubular aldosterone hyporesponsiveness. It is frequent among hospitalized patients as it is related to type 2 diabetes mellitus (T2DM) and common medications such as ACE-inhibitors (ACE-is) and trimethoprim-sulfamethoxazole (TMP-SMX). Drug-induced RTA commonly manifests in patients with predisposing conditions such as mild renal insufficiency and certain pharmacological therapies. ACE-i use and chronic adrenal insufficiency (cAI) are other significant risk factors. Chronic ACTH suppression is thought to induce global adrenal atrophy, including the zona glomerulosa, thus affecting aldosterone secretion as well. Furthermore, in the setting of cAI, treatment with ACE-is further suppresses aldosterone production. This case report describes a patient with cAI secondary to corticosteroid use for years who developed type IV RTA in the setting of lisinopril use. Potassium (K) elevation persisted despite removing underlying conditions and metabolic acidosis correction. The patient required long-term treatment with mineralocorticoids in addition to sodium bicarbonate to maintain normal K levels and acid-base status. Mineralocorticoid administration is a second-line treatment for type IV RTA, but it might be necessary for a subgroup of high-risk patients. In fact, it is important to consider patients with chronic adrenal insufficiency and on ACE-is treatment at increased risk for refractory hyperkalemia in the setting of type IV RTA. Indeed, this subgroup of patients can have severe hypoaldosteronism.

Overdose of long-acting insulin can cause unpredictable hypoglycemia for prolonged periods of time. The initial treatment of hypoglycemia includes oral carbohydrate intake as able and/or parenteral dextrose infusion. Refractory hypoglycemia following these interventions presents a clinical challenge in the absence of clear guidelines for management. Octreotide has sometimes been used, but its use is generally limited to sulfonylurea overdose. In this case report, we present a case of refractory hypoglycemia following an overdose of 900 units of long-acting insulin glargine that failed to respond to usual modes of therapy mentioned above. Stress-dose corticosteroids were then initiated, followed by subsequent improvement in IV dextrose and glucagon requirements and blood glucose levels. Hence, corticosteroids may serve as an adjunctive therapy in managing hypoglycemia and can be considered earlier in the course of treatment in patients with refractory hypoglycemia to prevent volume overload, especially when large volumes of dextrose infusions are required.

The use of dipeptidyl peptidase-4 inhibitors (DPP4i) appears to be associated with a small but significantly elevated risk of bullous pemphigoid (BP). Although the pathogenic mechanism of DPP4i-associated BP remains unclear, this adverse event is reported with multiple gliptins, suggesting a class effect. However, previous studies from various countries showed that vildagliptin had been implicated in most cases. The aim of this study was to illustrate a case series of DPP4i-associated BP in Thai patients. We conducted a retrospective study from consecutive cases of BP in people with type 2 diabetes mellitus (T2DM) from January 2008, the year in which the first DPP4i was introduced in Thailand, until December 2019. During the study period, 10 BP patients with T2DM were identified. A total of 5 DPP4i-associated BP (3 on vildagliptin, 1 on linagliptin, and 1 on sitagliptin) were found. All patients were male with a mean age at BP development of 80.4 years (73-86 years). All patients had a long-standing duration of diabetes (median duration 34 years), and mean A1C was 7.5 ± 1.4%. The median time to BP development after the introduction of DPP4i was 64 months (range 20-128 months). The severity of BP was classified as mild in 2 cases. In all cases, the association between the drug intake and BP onset was classified as "possible" according to the Naranjo causality scale. All of the patients continued taking DPP4i after BP diagnosis, and one patient died of lung cancer 18 months after BP diagnosis. Only 2 patients could achieve complete remission at least 2 months after stopping DPP4i. Our case series demonstrated a potential link between DPP4i and the development of BP, which mainly occurred in very elderly male patients. The latency period from an introduction of DPP-4i could be several years, and the clinical course after DPP4i discontinuation varied. Clinicians prescribing DPP4i should be aware of this association and consider stopping this medication before a refractory disease course ensues.

Over 50% of patients with papillary thyroid carcinoma (PTC) have cervical lymph-node metastasis on diagnosis, and up to 30% show nodal recurrence after surgery plus radioactive iodine (131I) (RAI) therapy. The combination of ultrasonography (US) and fine-needle aspiration cytology (FNAC) and the measurement of thyroglobulin (Tg) in washout fluid are cornerstones in the diagnosis of nodal metastasis. In the absence of anti-Tg antibodies, unstimulated serum thyroglobulin (Tg) levels are generally a reliable marker of recurrent disease, and 18F-FDG positron emission tomography (PET)/computed tomography (CT) plays an important role in the imaging work-up. We report the case of a 65-year-old man evaluated for a large multinodular goitre which caused compressive symptoms; the dominant nodule in the left lobe presented suspicious features on US. Thyroid function showed subclinical hypothyroidism, calcitonin was normal, serum thyroglobulin levels were low, and anti-thyroid antibodies were absent. The prevalent left nodule showed an intense uptake on 18F-FDG PET/CT but proved benign at FNAC. On the basis of the suspicious clinical and imaging features, total thyroidectomy was performed. Histology revealed a tall-cell variant of PTC with scattered expression of Tg and diffuse high expression of cytokeratin (CK) 19; RAI therapy was performed. Within 6 years of surgery, left laterocervical lymph-node recurrence was twice detected (first at levels II and III, then at levels IV and VI) by US and 18F-FDG-PET/CT and was confirmed by FNAC. Tg levels in the washout fluid proved clearly diagnostic of metastasis only in the second, larger, recurrence, whereas serum Tg levels (in the absence of anti-Tg antibodies) always remained undetectable on L-thyroxine therapy. Surgery was performed on both recurrences, and histology confirmed lymph-node metastasis of PTC. Immunohistochemical expression of Tg and CK 19 was similar to that of the primary tumour. No further relapses have occurred to date. Posttherapy (surgery and RAI) unstimulated serum Tg levels may not be a reliable marker of nodal recurrence in patients with differentiated thyroid cancer (DTC) that produces low amounts of Tg.

Familial hypocalciuric hypercalcemia (FHH) is considered a relatively benign condition characterized by mild elevations in serum calcium and relatively low urinary calcium excretion. It results from an elevated set point in serum calcium arising from variants in the calcium-sensing receptor (CaSR) gene but also AP2S1 and GNA11 genes, which encode for adaptor-related protein complex 2 and G11 proteins, respectively. The manifestations of FHH can vary and sometimes overlap with primary hyperparathyroidism making the diagnosis challenging. Case Presentations. We report a mother and daughter with a novel heterozygous variant in the CaSR gene resulting in a serine to leucine substitution at position 147 (S147L) of the CaSR. Both patients had mild hypercalcemia, relatively low urinary calcium excretion, elevated calcitriol, and low-to-normal intact PTH. The proband (daughter) presented with symptoms associated with hypercalcemia and was incidentally found to have a bony lesion suspicious for osteitis fibrosa cystica, and she was also diagnosed with sarcoidosis. Subtotal parathyroidectomy revealed normal-weight parathyroid glands comprised of 50-80% parathyroid epithelial cells, which has been documented as within the spectrum of normal. Her mother had no symptoms, and no intervention was pursued. Conclusion. We report a novel variant in the CaSR associated with FHH in two patients with similar biochemical features yet differing clinical manifestations. While the relationship of the bony findings and parathyroid histology with this variant remains unclear, these cases enrich our knowledge of CaSR physiology and provide further examples of how varied the manifestations of FHH can be.