搜索结果：JCEM case reports

Primary amenorrhea is a common referral indication in pediatric and adolescent endocrinology and can occur due to hypothalamic-pituitary disorders, uterovaginal anatomical anomalies, or gonadal dysfunction. We describe 3 adolescents presenting with primary amenorrhea and otherwise appropriate pubertal development, due to Mayer-Rokitansky-Kuster-Hauser syndrome, each illustrating a distinct diagnostic challenge. The patient in case 1, who also had concerns of short stature, had elevated gonadotropin levels, suggesting a possibility of primary ovarian insufficiency. However, a normal estradiol level and repeat gonadotropin testing clarified the underlying hormonal physiology. The patient in case 2 presented with bilateral inguinal swellings and primary amenorrhea mimicking androgen insensitivity, but imaging demonstrated ectopic ovaries with absent Müllerian structures. The patient in case 3 had primary amenorrhea and a large lumbosacral mass with neurological symptoms, due to a lipomeningomyelocele associated with Müllerian agenesis. A structured evaluation incorporating repeat hormonal assessment and detailed imaging clarified the diagnosis in all cases. This report highlights the common diagnostic pitfalls during evaluation for primary amenorrhea and emphasizes the importance of reviewing the biochemical data in the context of clinical and imaging findings. In addition, a retrospective review of our cohort of adolescent girls with similar presentations is elaborated to highlight the range of associated findings.

Parathyroid adenomas with chronic parathyroiditis are challenging to diagnose, as the etiology is unknown and may lie on a spectrum from systemic autoimmune changes to local inflammatory reactions. We aim to present 2 cases of hypercellular parathyroid glands with chronic lymphocytic parathyroiditis and review all other cases reported in the literature. Overall, the clinical course was benign, and surgical intervention was warranted due to the symptomatic nature of the presentations. The surgery was carried out without complications, leading to immediate and significant improvement in the patients' symptoms, normalization of calcium and parathyroid hormone levels, and a mild improvement in glomerular filtration rate. The pathological examination of the surgical specimens revealed hypercellular parathyroid glands with scattered foci of lymphocytic parathyroiditis and lymphocytic aggregates in both cases, alongside germinal center formation in 1 of the cases. This atypical presentation may warrant consideration of an autoimmune evaluation, which could impact post-operative surveillance. Furthermore, patients may benefit from referral to rheumatology and endocrinology, as well as surveillance for other autoimmune endocrinopathies.

Juvenile hemochromatosis (JH) is a rare disorder caused by iron metabolism errors that lead to severe iron loading and organ failure in young adults before 30 years of age. We report a challenging case of a 26-year-old female whose diagnosis was delayed by nearly a decade due to deceptively nonspecific symptoms. She initially presented with oligomenorrhea at age 18 and was misdiagnosed with polycystic ovary syndrome (PCOS). Subsequent work-up for primary infertility revealed idiopathic hypogonadotropic hypogonadism (IHH). She progressively developed insulin-dependent diabetes mellitus and life-threatening sudden heart failure, necessitating an urgent cardiac transplant. Genetic evaluation confirmed JH (type 2A), identifying a homozygous likely pathogenic variant in the hemojuvelin (HJV) gene c.1006G > T (p.Gly336Ter), reported in only 4 cases within the Indian population. This case underscores a critical clinical lesson: the simple failure to perform a routine, inexpensive ferritin test can allow JH to slip until it causes fatal multi-organ damage. We conclude that any young patient presenting with type D PCOS (non-hyperandrogenic), IHH, young-onset heart failure, or atypical diabetes must be screened for iron overload even in the absence of classical symptoms to prevent irreversible consequences. Early genetic testing should be considered.

Vitamin D is essential for calcium and phosphate homeostasis and skeletal development. Variants in the vitamin D receptor gene (VDR) cause vitamin D-dependent rickets type 2A (VDDR2A), characterized by end-organ resistance to 1,25-dihydroxyvitamin D (1,25(OH)2D). We describe a child of nonconsanguineous Middle Eastern parents who presented at age 9 months with poor linear growth and inadequate weight gain. Initial evaluation showed normocalcemia, hypophosphatemia, hyperparathyroidism, markedly elevated alkaline phosphatase, and radiographic rickets, leading to an initial diagnosis of hypophosphatemic rickets. Despite treatment with low-dose calcitriol, cholecalciferol, calcium, phosphate, and bicarbonate, biochemical abnormalities persisted. Further evaluation revealed markedly elevated 1,25(OH)2D, and whole-exome sequencing identified a homozygous pathogenic VDR c.1027C>T (p.R343C) variant, confirming VDDR2A. High-dose calcitriol therapy resulted in progressive biochemical improvement and catch-up growth. This case highlights that VDDR2A may initially present with hypophosphatemia without hypocalcemia, leading to misclassification as hypophosphatemic rickets. Early recognition of elevated 1,25(OH)2D and timely genetic testing are essential for accurate diagnosis and management.

Gliclazide, a second-generation sulfonylurea, is frequently utilized for glycemic management in type 2 diabetes mellitus (T2DM), attributed to its cardiovascular safety profile and minimal hypoglycemia risk. Sulfonylurea-induced bradycardia is a rare and underreported phenomenon. A 68-year-old male with a long history of T2DM and hypertension presented with presyncope, lethargy, and dizziness 10 days following the initiation of modified-release gliclazide at a dosage of 60 mg once daily. Upon evaluation, the heart rate was recorded at 42 beats per minute with a regular rhythm. Electrocardiogram indicated sinus bradycardia accompanied by intermittent junctional escape beats. Echocardiography, cardiac biomarkers, thyroid function tests, and electrolyte levels were within normal limits. Twenty-four-hour Holter monitoring revealed sinus bradycardia with pauses lasting up to 3.2 seconds. No evidence was found of underlying conduction abnormalities or concurrent use of other bradycardia-inducing medications. A diagnosis of bradycardia induced by gliclazide was established based on the temporal correlation and the resolution of symptoms following the discontinuation of the medication. After a modification in his antidiabetic treatment, the patient continued to exhibit no symptoms. This case underscores the necessity of identifying rare yet significant cardiac adverse effects associated with gliclazide, particularly in elderly patients, to facilitate prompt intervention and prevent unwarranted investigations.

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A 58-year-old man had multiple cutaneous neurofibromas since childhood; however, these were not evaluated. Two months prior, he developed bloody sputum and cough. Computed tomography revealed multiple masses throughout the body, including bilateral adrenal glands. The right adrenal mass was diagnosed as a pheochromocytoma via biopsy. The urinary metanephrine levels were extremely high. Iodine-123 metaiodobenzylguanidine (123I-MIBG) scintigraphy revealed uptake only in the right adrenal gland, liver, and lungs. He developed heart failure 1 month prior and was transferred to our hospital because of the deterioration of his general condition. Based on the 123I-MIBG scintigraphy findings and cutaneous neurofibromas, the patient was clinically diagnosed with metastatic pheochromocytoma associated with neurofibromatosis type 1 (NF1). He received palliative care because aggressive treatment was not feasible owing to his poor condition. The patient died 1 month later. Autopsy revealed metastases from the right adrenal pheochromocytoma to the liver and lungs. Additionally, malignant peripheral nerve sheath tumors were found in the left adrenal gland, lungs, left humeral diaphysis, and perineum, and a gastrointestinal stromal tumor was found adjacent to the small intestine. Patients with NF1 may have multiple types of tumors simultaneously, which should be considered when making a diagnosis.

The 13th Annual EndoBridge Meeting took place in Antalya, Türkiye, from October 23 to 26, 2025. Accredited by the European Council, the congress delivered a comprehensive scientific program combining state-of-the-art lectures with interactive small-group case discussions led by internationally recognized experts in endocrinology and metabolism. The meeting drew a diverse audience and provided an in-depth review of major areas within the field. Core subjects included disorders of the pituitary, thyroid, adrenal glands, and bone metabolism, as well as neuroendocrine tumors, diabetes, obesity, clinical nutrition, and lipid abnormalities. Clinical case abstracts presented in oral and poster sessions were subsequently published in JCEM Case Reports. This report highlights the principal themes and clinical insights shared during the congress. Key discussions addressed contemporary approaches to acromegaly management, therapeutic strategies for subclinical thyroid dysfunction, goal-oriented treatment models in osteoporosis, adjunctive options in type 1 diabetes management, and the evolving concept of obesity phenotyping. Additional updates covered hormonal treatment strategies for menopause and premature ovarian insufficiency, along with recent developments in male hypogonadism and infertility. Overall, the sessions reflected current advances in endocrine science while offering practical guidance for the management of common and complex endocrine disorders. The 14th Annual EndoBridge Meeting will be held in Antalya, Türkiye, from October 22 to 25, 2026.

Primary hyperparathyroidism occurs in up to 95% of patients with multiple endocrine neoplasia type 1 (MEN1). However, only a few cases of parathyroid carcinoma have been reported, and only one case of intrathyroidal parathyroid carcinoma. We describe the case of a 41-year-old male with a history of MEN1 and primary hyperparathyroidism who developed hypercalcemia to 13.1 mg/dL (SI: 3.3 mmol/L) (reference range [RR], 8.6-10.3 mg/dL [SI: 2.2-2.6 mmol/L]) with parathyroid hormone (PTH) 454 pg/mL (SI: 48.1 pmol/L) (RR, 15-65 pg/mL [SI: 1.6-6.9 pmol/L]). Neck ultrasonography showed a highly suspicious intrathyroidal 3.6 cm nodule. The patient had a lobectomy, and final pathology showed a 3.1 × 1.6 × 1.2 cm parathyroid carcinoma. After the surgery, calcium dropped to 6.0 mg/dL (SI: 1.5 mmol/L) with PTH of 11 pg/mL (SI: 1.2 pmol/L) requiring oral calcium supplements, calcitriol, and hydrochlorothiazide. Laboratory tests at 12 months on these medications showed calcium of 9.3 mg/dL (SI: 2.3 mmol/L) and PTH 21 pg/mL (SI: 2.2 pmol/L) indicating recovery of parathyroid function without recurrence, and calcitriol was discontinued. This case illustrates that a high index of suspicion for malignancy should be maintained for intrathyroidal parathyroid adenoma in the setting of severe hypercalcemia, especially in MEN1.

Pheochromocytoma and paraganglioma (PPGL) are neuroendocrine tumors with malignant potential. Although surgery is often curative, local recurrence, metastatic disease, or new tumors can occur even decades later; therefore, long-term follow-up for at least 10 years is generally recommended. We present a case of metachronous contralateral pheochromocytoma (PCC) diagnosed 62 years after the initial surgery-the longest postoperative interval reported through our literature search. We identified an old Japanese case report of the same patient that contained valuable clinical data and treatment details, providing a unique opportunity for longitudinal comparison of the initial and later clinical courses across 6 decades. Interestingly, the second tumor showed a shift from a mixed epinephrine-norepinephrine secretory profile to a predominantly norepinephrine profile, suggesting a potential change in the tumor characteristics over time. Although the patient declined surgery and genetic testing, a genetic etiology of PCC was suspected. This case highlights the importance of lifelong follow-up for all patients with PPGL, regardless of apparent cure.

Lipoprotein lipase (LPL) deficiency is an autosomal recessive disorder causing hypertriglyceridemia. Presentations are heterogenous and there are no standardized acute treatment protocols. Long-term management consists of strict dietary control. We report a case of LPL deficiency in an infant presenting with gastrointestinal bleeding and compensated shock, with a more severe presentation than previously published cases. Preliminary diagnosis was based on lipemic blood appearance. Intensive care resuscitation was required. Triglyceride levels peaked above 200 times the upper limit of normal. Insulin infusion provided no benefit. A whole-blood exchange transfusion led to a sustained reduction in triglyceride levels. Diagnosis was confirmed by genetic testing. Despite the magnitude of hypertriglyceridemia, there were minimal end-organ sequelae. The necessity of invasive management of severe hypertriglyceridemia is not established. This case highlights the range of presentations in inherited metabolic disease, and the limited evidence for acute management strategies.

Thyroid storm is a rare and potentially fatal endocrine emergency, most commonly precipitated by infections, withdrawal of antithyroid drugs, or acute events in patients with Graves disease. Reports associated with thyroiditis or with unusual infections, such as perianal abscess, are exceptionally uncommon. We describe the case of a 61-year-old previously healthy man admitted with a perianal abscess complicated by atrial fibrillation with rapid ventricular response and thyroid storm. The patient received intensive treatment with propylthiouracil, Lugol solution, propranolol, corticosteroids, antibiotics, and electrical cardioversion, resulting in sustained reversion to sinus rhythm. During follow-up, he developed permanent hypothyroidism, requiring levothyroxine replacement. Beyond the perianal infection as an evident trigger, the progression to definitive hypothyroidism and positive antithyroid peroxidase antibodies also raises the uncommon possibility of hashitoxicosis as the underlying etiology. This case illustrates an atypical presentation of thyroid storm, underscoring the importance of early recognition and multidisciplinary management.

A pheochromocytoma is a rare catecholamine-secreting tumor that can cause life-threatening complications. Circulatory shock with a significant cardiogenic component is an uncommon initial presentation. This case describes a previously healthy 30-year-old woman presenting with vomiting, hyperglycemia, and shock. This rapidly progressed to requiring intubation, vasopressor therapy, and resuscitation following cardiac arrest. Imaging revealed a right adrenal mass and plasma metanephrines and normetanephrines were markedly elevated. After stabilization with α- and β-adrenergic blockade, the patient underwent successful adrenalectomy, confirming a pheochromocytoma-induced catecholamine crisis, with full recovery of cardiac function. This case illustrates the diversity of initial presentation of pheochromocytoma, the diagnostic challenges associated with measuring plasma (nor)metanephrines after resuscitation and the reversible nature of catecholamine-induced cardiomyopathy.

Extrarenal renin-producing tumors are a cause of secondary hypertension and are most commonly reported to arise in the adrenal gland, lung, and pancreas; however, they rarely occur in the ovary, and renin-producing ovarian tumors are mainly larger than 5 cm or malignant. We report a case of a 3 cm renin-producing ovarian tumor. A 27-year-old woman presented with newly diagnosed hypertension. Laboratory evaluation revealed hyperreninemic hyperaldosteronism. Renal artery ultrasonography and abdominal magnetic resonance angiography showed no renal artery stenosis or adrenal abnormalities, making primary aldosteronism and renovascular hypertension unlikely. Contrast-enhanced abdominopelvic computed tomography identified a 3 cm left ovarian tumor without other lesions. Based on these findings, an extrarenal renin-producing ovarian tumor was suspected. Laparoscopic left ovarian cystectomy was performed. Histopathology showed a mature cystic teratoma without malignancy, and immunohistochemistry demonstrated renin-positive cells. Blood pressure normalized rapidly after surgery. This case suggests that surgical intervention is useful for both the diagnosis and treatment of secondary hypertension when an extrarenal renin-producing tumor is suspected. Renin-producing ovarian tumors should be considered in the differential diagnosis of secondary hypertension, and surgical treatment may be warranted in selected patients when biochemical suspicion is strong.

Osilodrostat, a potent 11β-hydroxylase inhibitor, is used for Cushing syndrome. Transient adrenal insufficiency during dose titration is common and usually reversible, whereas prolonged adrenal insufficiency after treatment discontinuation appears uncommon. A man with treatment-resistant Cushing disease was treated with osilodrostat after prior transsphenoidal surgeries and stereotactic radiosurgery. He initially demonstrated the expected biochemical profile of 11β-hydroxylase inhibition, with elevated adrenocorticotropic hormone (ACTH) and 11-deoxycortisol concentrations. After 18 months of therapy, he developed adrenal insufficiency with morning cortisol 1.27 μg/dL (SI: 35 nmol/L) [reference 5-22.6 μg/dL; 145-619 nmol/L], ACTH 989 pg/mL (SI: 217.6 pmol/L) [reference 4-46 pg/mL; 1.0-10.1 pmol/L], suppressed aldosterone 1.2 ng/dL (SI: 33.2 pmol/L) [reference 2-35 ng/dL; 55.4-970 pmol/L], markedly elevated direct renin 288.5 mIU/mL [reference 4.4-46.1 mIU/mL], and suppression of adrenal androgen production. Osilodrostat was discontinued and glucocorticoid replacement initiated, with later introduction of mineralocorticoid replacement. At 2.5 years, glucocorticoid and androgen suppression persist, together with prolonged mineralocorticoid dysfunction and adrenal size reduction. Review of 10 previous reports suggests prolonged adrenal insufficiency is uncommon and mineralocorticoid deficiency rarely documented, while persistent androgen suppression has not previously been reported. This case highlights prolonged pan-adrenal steroidogenic suppression with adrenal shrinkage and suggests recovery of adrenal function may take years.

Primary hyperparathyroidism is an endocrine disorder with diverse clinical and biochemical manifestations. Albright classically described the condition as a disease of "stones, bones, groans, and moans." Its clinical spectrum may include recurrent acute pancreatitis secondary to hypercalcemia. Although biochemically the disorder typically presents with elevated serum calcium, reduced serum phosphate, and increased parathyroid hormone (PTH) levels, atypical manifestations are possible. We report the case of a 41-year-old man who presented with recurrent episodes of acute pancreatitis and on evaluation was found to have persistently elevated serum calcium and low serum phosphorus levels with intact PTH (iPTH) concentrations within the laboratory reference range. In the context of hypercalcemia, a normal PTH level was considered inappropriately normal because physiologic feedback would typically suppress PTH secretion. Consequently, normo-hormonal primary hyperparathyroidism (NHpHPT) was suspected, and localization workup undertaken. Dual-phase technetium 99mTc Sestamibi scintigraphy demonstrated a right inferior parathyroid adenoma, subsequently confirmed by four-dimensional computed tomography (4D-CT). The patient had bilateral renal calculi. Focused right inferior parathyroidectomy resulted in biochemical normalization and marked clinical improvement. This case highlights the heterogeneous manifestations of primary hyperparathyroidism and emphasizes that a normal PTH level in the context of hypercalcemia does not exclude the diagnosis of hyperparathyroidism.

Immune checkpoint inhibitor (ICI) cancer therapies targeting programmed cell death protein 1 and cytotoxic T-lymphocyte-associated protein 4 enhance antitumor immunity in many cancers. Despite its efficacy, ICI therapy can trigger severe autoimmune attacks across various organ systems, termed immune-related adverse events (irAEs). Antitumor immunity and autoimmunity are tightly linked as demonstrated by the enhanced efficacy of ICI therapy in patients who develop irAEs. Whether patients with preexisting autoimmunity or genetic risk factors for autoimmunity should be offered ICI therapies remains uncertain. We present the case of a patient with autoimmune polyglandular syndrome type 1, caused by a pathogenic autoimmune regulator (AIRE) missense mutation, who was treated with ICI therapy for squamous cell carcinoma of the hard palate. She subsequently developed 3 concurrent irAEs: ICI-hepatitis, ICI-thyroiditis, and ICI-diabetes mellitus. For these irAEs, the patient was treated with immunosuppressants, thyroid hormone replacement, and basal bolus insulin therapy. This case highlights the need for careful evaluation of patients for underlying autoimmune diseases prior to ICI therapy initiation. It also highlights a 2-hit model wherein any impaired central immune tolerance combined with ICI therapy may predispose patients to multiple severe irAEs.

Type B insulin resistance syndrome (IRS) is a rare autoimmune disorder characterized by severe insulin resistance caused by autoantibodies against the insulin receptor. Clinically, it presents with fluctuating hyperglycemia and hypoglycemia and is frequently associated with other autoimmune diseases. We report a case with the rarely reported combination of type B IRS and aplastic anemia. A 77-year-old woman with obesity presented with abrupt deterioration of glycemic control and bilateral lower extremity edema. Despite the administration of up to 300 units/day of insulin after hospitalization, hyperglycemia remained refractory. Markedly elevated insulin receptor autoantibody titers (85.9%) confirmed the diagnosis of type B IRS. Further evaluation for concomitant pancytopenia revealed aplastic anemia on bone marrow examination. Immunosuppressive therapy with cyclosporine and eltrombopag for aplastic anemia improved the hyperglycemia; however, early morning hypoglycemia, renal dysfunction associated with intravascular volume depletion, and persistent lower extremity edema remained unresolved. The addition of glucocorticoid therapy resulted in rapid clinical improvement and marked reduction in the insulin receptor autoantibody titers (8.6%). This case highlights the importance of early and appropriate immunomodulatory therapy to achieve remission in type B IRS, particularly in patients with multiple concomitant autoimmune diseases.

Propylthiouracil (PTU), an antithyroid medication used in managing Graves disease, can rarely cause antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), a potentially serious complication. We report a case of a 54-year-old woman with Graves disease on long-term PTU therapy who developed a progressive purpuric rash and polyarthralgia. Laboratory tests showed elevated inflammatory markers and positive results for perinuclear ANCA (p-ANCA) and myeloperoxidase antibodies. A skin biopsy confirmed leukocytoclastic vasculitis. Symptoms improved after the discontinuation of PTU and initiation of corticosteroid therapy. The patient subsequently underwent total thyroidectomy for definitive treatment of Graves disease. This case highlights the importance of considering PTU-induced AAV in patients with vasculitic rashes, even after years of stable therapy. Early detection, prompt discontinuation of the medication, and multidisciplinary collaboration are essential to prevent disease progression and ensure favorable outcomes.