Case Reports in Endocrinology最新文献

Acromegaly is a rare disease that is caused by a growth hormone (GH) secreting pituitary tumor. This is a case of a 62-year-old man who presented with hypertrophic cardiomyopathy more than 25 years after surgical remission without other known etiologies of left ventricular hypertrophy. The patient initially presented at age 28 with symptoms of acromegaly and diagnosed himself, while several physicians dismissed the diagnosis. He underwent transsphenoidal surgery associated with long-term remission. At age 53, he developed palpitations, light headedness, dizziness, and chest tightness, and an echocardiogram demonstrated left ventricular hypertrophy. At age 60, cardiac magnetic resonance imaging (MRI) suggested hypertrophic cardiomyopathy, which continues to be followed. This case raises the question of whether cardiac morphological changes occur in patients with acromegaly who have GH and insulin-like growth factor-1 (IGF-1) levels well controlled. Cardiac MRI is the most accurate imaging modality for assessment of cardiomyopathy. However, more research is needed to inform clinical guidelines on screening for cardiac functional and morphological changes in patients with acromegaly.

Hypophosphatasia (HPP) is a rare genetic disorder characterized by bone fragility due to defective bone mineralization resulting in impaired alignment of bone components (bone disorganization). Current challenges in the management of HPP include accurately quantifying bone disease severity, monitoring disease progression, and assessing treatment response, particularly in pseudo-fracture healing. Conventional tools such as bone mineral density (BMD) and architecture assessments do not adequately address these issues as they do not assess bone disorganization, limiting their utility in HPP. In this study, we use the ALIGNOGRAM software to reanalyze pseudo-fracture healing in a previously presented case report of an 18-year-old female with benign HPP treated with asfotase alfa. We show that improvements in bone disorganization were detectable as early as 3 months after treatment initiation-before changes on X-ray or bone scintigraphy were detected. As such, assessment of the degree of bone disorganization could serve as an early indicator of treatment efficacy in HPP.

Background: Kallmann syndrome is a rare endocrinopathy characterized by congenital hypogonadotropic hypogonadism (CHH) and olfactory dysfunction. The current understanding of the genetic basis of Kallmann syndrome is fragmentary. TCF12 is a causative gene for autosomal dominant craniosynostosis with various complications. Although recent studies identified rare nucleotide substitutions and indels of TCF12 in a few families with CHH and additional clinical features, the significance of TCF12 variants as the cause of Kallmann syndrome remains uncertain. Case Presentation: A Japanese boy exhibited bilateral cryptorchidism and micropenis at birth. He was otherwise healthy and had normal developmental milestones. At 11 years of age, he showed no pubertal signs. Physical examinations detected no clinical abnormalities except hyposmia. Brain imaging suggested olfactory bulb hypoplasia, but no other anomalies. A gonadotropin-releasing hormone (GnRH) stimulation test yielded low responses of gonadotropins. Whole-exome sequencing (WES) identified a hitherto unreported de novo heterozygous substitution at a splice acceptor site of TCF12 (c.391-1G >A). This variant was predicted to cause a frameshift and resultant premature termination (p.Ser132ProfsTer38) and was assessed as pathogenic, according to the ACMG/AMP 2015 guidelines. The patient carried no rare variants in other genes previously associated with Kallmann syndrome or CHH. Conclusion: These results broaden the mutation spectrum of TCF12. More importantly, this study argues for the etiological relationship between TCF12 variants and isolated Kallmann syndrome.

Most cases of primary hyperparathyroidism (PHPT) are sporadic and are caused by parathyroid adenomas. Hereditary forms may occur in up to 10% of PHPT patients and are more frequent in younger patients. The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is characterized by PHPT in up to 95% of patients and ossifying fibromas in the jaw in 25%-50%. We describe the case of a 35-year-old male from Bangladesh referred to our hospital due to a voluminous right mandibular swelling: a rare nonossifying fibroma of the mandible was diagnosed. Due to functional impotence, a left shoulder magnetic resonance imaging (MRI) was performed with evidence of a pluri-lobulated cyst-like lesion in the proximal humeral area diagnosed as a brown tumor (BT). Subsequent tests highlighted hypercalcemia and hypophosphatemia with high PTH levels. A heterozygous CDC73 pathogenic variant c.96>A p.Trp32Ter was identified. To the best of our knowledge, this is the first reported case of HPT-JT syndrome related to a CDC73 pathogenic variant, associated to a BT of the arm and a rare nonossifying fibroma of the mandible.

Primary aldosteronism (PA) is the most frequent cause of secondary hypertension. PA is primarily categorized into two subtypes: The unilateral subtype, which mainly consists of aldosterone-producing adenoma (APA) and the bilateral subtype, in which aldosterone is overproduced by both adrenal glands. Rarely, does the bilateral form of PA coexists with a cortisol-producing adenoma (CPA), as documented by previous reports. In this context, we present two cases wherein the preoperative diagnosis identified the bilateral form of PA accompanied by a unilateral CPA. However, postresection of the CPA, unexpected resolution of the bilateral form of PA was observed in both patients. Case 1：A 57-year-old female presented with overt Cushing's syndrome attributed to a left adrenal tumor and concomitant bilateral PA. Laparoscopic left adrenalectomy was performed for the treatment of Cushing's syndrome. Case 2：A 67-year-old female diagnosed with a left adrenal tumor with coexisting bilateral PA. The left adrenal tumor exhibited mild autonomous cortisol secretion (MACS) and given the increase in tumor size, laparoscopic left adrenalectomy was undertaken. After 1 year of surgery, we conducted a captopril challenge test (CCT) on both patients, revealing that neither satisfied the diagnostic criteria for PA. In patients where unilateral CPA coexisted with bilateral PA, unilateral adrenalectomy may provide remission of not only the autonomous cortisol secretion but also bilateral PA. Consequently, postoperative evaluation of PA assumes significance.

Prostate cancer is the most prevalent cancer among men in Western countries and is commonly managed by androgen deprivation therapy for locally advanced or metastatic stages. Even if initially effective, most patients eventually develop resistance to this treatment. Approved in 2011 for castration-resistant prostate cancer, abiraterone acetate inhibits the CYP17A1 enzyme, which is crucial in androgen and cortisol synthesis. This inhibition disrupts feedback on adrenocorticotropic hormone (ACTH), causing mineralocorticoid excess syndrome (MES), which is characterized by fluid retention, hypokalemia, and hypertension. MES can persist even with glucocorticoid supplementation, as observed in some cases. This study describes the case of a 68-year-old male with prostate cancer who developed severe, treatment-resistant hypokalemia after 6 years of abiraterone and prednisone therapy. The patient presented with poorly controlled diabetes and notable hypokalemia despite oral and parenteral potassium supplementation. Imaging revealed an adrenal adenoma; however, low renin and aldosterone levels suggested that abiraterone-induced MES, rather than primary aldosteronism, was responsible for his hypokalemia. The main therapy adjustment consisted of switching prednisone to dexamethasone to enhance ACTH suppression, effectively resolving the patient's hypokalemia. This case underscores the need for MES monitoring in patients on abiraterone, as MES can develop or worsen over time. Physicians should consider dexamethasone over prednisone in persistent MES cases, always monitoring also for the risk of developing Cushing syndrome. Given the rising prostate cancer incidence, clinicians must remain vigilant for MES-related complications with abiraterone, including delayed-onset severe hypokalemia.

Hyperosmolar hyperglycemic state (HHS) is a life-threatening condition characterized by extreme hyperglycemia, high plasma osmolality, and severe dehydration without significant ketoacidosis. Prompt diagnosis and appropriate management are essential to reduce morbidity and mortality, which range from 10% to 20%. We report a case of a 50-year-old man with insulin-dependent diabetes mellitus secondary to chronic alcoholic pancreatitis presenting with severe HHS and coma. His initial blood glucose level was 134 mmol/L (2420 mg/dL), and serum osmolality was 416 mOsm/kg. Despite the critical condition at admission, the patient responded well to intensive therapy, including insulin infusion and intravenous fluids, and could be discharged without any neurological sequelae.

A 65-year-old male presented to our hospital with a complaint of a left cervical mass. The left supraclavicular lymph node was enlarged, measuring 77 mm, and biopsy results confirmed metastasis of papillary thyroid carcinoma (PTC). The left supraclavicular lymph node extended to the upper mediastinum and invaded the internal jugular and subclavian veins, with suspicion of common carotid and subclavian artery invasion. Surgical resection was deemed infeasible. The Oncomine Dx Target Test system, a gene panel test using a next-generation sequencer, of the metastatic lymph node was positive for RET fusion (CCDC6-RET), and selpercatinib treatment was initiated. After 4 months, the tumor reduced in size, and surgery was performed. The postoperative course was uneventful, with ongoing follow-up. This case is a successful case of neoadjuvant chemotherapy for RET fusion-positive PTC with local regional progression.

Background: Obstructive sleep apnea (OSA) and nontoxic multinodular goiter are conditions that often coexist. Treatments of both conditions have evolved over time, but continuous positive airway pressure (CPAP), oral appliances, or surgical therapy are often needed. Radiofrequency ablation (RFA) of the soft palate and base of tongue has been applied as a newer alternative therapy for OSA. RFA is also an increasingly used approach for thyroid nodules and goiter, but previously had no known connection to OSA. Case Presentation: A 59-year-old female with a known history of multinodular goiter and moderate OSA was referred to our endocrine surgery clinic. The goiter was found to have mediastinal extension, documented longitudinal growth of the dominant nodule, cosmetic deformity of the neck, and tracheal deviation. The patient underwent thyroid RFA as nonoperative treatment for her goiter. Within a month of her procedure, she also self-reported a subjective reduction in apneic events and later underwent a formal home sleep study demonstrating an apnea-hypopnea index (AHI) change from 15.8/h at diagnosis to 2.9/h currently, signifying resolution of her OSA. Her treated nodule had 92% volume reduction on 18-month follow-up visit. Conclusion: To our knowledge, this is the first reported case of OSA cured in a patient undergoing RFA for goiter. Goiter-associated sleep apnea remains inadequately described in the literature and warrants further investigations on prevalence and management. Thyroidectomy continues to be the definitive treatment for goiter, with some studies suggesting secondary efficacy for OSA. RFA is now established as a first-line option for symptomatic thyroid nodules, but previously had no described benefit to OSA symptoms. This report illustrates that RFA of thyroid nodules could be offered to patients as both an effective nonsurgical option for goiter as well as a potential cure for their OSA to free them from nightly CPAP usage.

Background: Thyroid-stimulating hormone (TSH)-secreting pituitary adenomas (TSHomas) are very rare pituitary tumors causing central hyperthyroidism. Most are macroadenomas (≥ 10 mm) with local and systemic comorbidities at diagnosis. The atypical changes in thyroid function tests (TFTs) may be subtle and are often initially missed, while over-secretion of other pituitary hormones is often present. Somatostatin analogs (SSAs) are the recommended first-line medical therapy for these lesions. We report two cases of TSHomas successfully managed with a dopamine agonist (DA) therapy, alone or following transsphenoidal surgery (TSS). Case Presentation: A 47-year-old man presented with significant weight loss, fatigue, and muscle weakness. He was found to have hyperprolactinemia, secondary adrenal insufficiency (AI), and central hypogonadism, which led to the discovery of a 3 cm invasive pituitary adenoma. Additional tests showed an increased IGF1, TSH, and free T4. A Pit-1 multihormonal tumor was documented on pathology after partial resection by TSS. Persistent hyperprolactinemia and central hyperthyroidism responded to DA therapy, as the patient refused therapy. A 66-year-old man with a history of anxiety, hypertension, coronary artery disease, atrial fibrillation, and thyroid nodules, was consulted for severe dizziness and was found to have a 2.4 cm pituitary adenoma on a head CT scan. Lab records showed a progressive supranormal free T4 and TSH increase over the preceding five years. He refused surgery and had an excellent clinical and biochemical response to DA treatment. Conclusion: Prompt detection of central hyperthyroidism by monitoring and correctly interpreting TFT over time is essential for early diagnosis and optimal management of TSHomas. TSH-secreting adenomas may respond to DA therapy.