SUMMARY:We describe a rare case of arginine vasopressin deficiency (AVP-D) in a female in her 40s that developed two weeks following symptomatic COVID-19 infection. Symptoms included polydipsia, nocturia and polyuria of 9.1 L per day. A water deprivation test demonstrated an ongoing high urine output despite increasing plasma osmolality, confirming the diagnosis. Desmopressin was commenced with good effect and titrated to clinical response. This demonstrates the importance of awareness of potential pituitary complications following COVID-19 infection, including AVP-D. LEARNING POINTS:
SUMMARY:Osteoporosis associated with pregnancy and lactation (PLO) is a debilitating premenopausal osteoporosis that occurs during the last trimester of pregnancy or breastfeeding. Its pathogenesis is complex and remains unclear, and there are currently no established guidelines. Case reports are valuable for clinicians in diagnosis, management, and treatment. We report a case of a young woman with multiple vertebral fractures who received a diagnosis of PLO. The patient was treated with vitamin D, teriparatide, and lifestyle modifications. We monitored the patient's bone mineral density using radiofrequency echographic multi-spectrometry (REMS) technology, a novel ultrasound tool for bone status evaluation. The ability to follow up young patients at risk of PLO using this safe, non-ionizing radiation tool could represent a significant advancement in the management of this condition. LEARNING POINTS:
Summary:Rathke's cleft cyst (RCC) is a benign sellar or suprasellar lesion increasingly detected by magnetic resonance imaging (MRI). Although surgery is indicated for symptomatic or enlarging RCCs, recurrence may occur and reoperation may be required, particularly in pediatric patients, for whom long-term postoperative data remain limited. We report a pediatric case with RCC associated with growth hormone (GH) deficiency. GH replacement therapy was started at 5 years of age. At 8 years of age, MRI revealed a sellar and suprasellar cystic lesion diagnosed as RCC, and endoscopic transsphenoidal surgery was performed. Following the initial surgery, GH secretion showed no improvement, and desmopressin therapy was initiated due to postoperative arginine vasopressin (AVP) deficiency. Gradual cyst recurrence became evident, necessitating reoperation seven years after the initial surgery. After the second surgery, GH secretion improved, whereas postoperative AVP deficiency persisted. This case demonstrates delayed recurrence of pediatric RCC and dynamic changes in anterior and posterior pituitary function, highlighting axis-specific reversibility of pituitary dysfunction and the need for long-term follow-up. Learning points:Pediatric RCC may demonstrate delayed recurrence many years after initial surgery, requiring long-term endocrine follow-up. Anterior pituitary dysfunction, including GH deficiency, may be reversible following adequate decompression. Persistent postoperative arginine vasopressin deficiency may reflect irreversible posterior pituitary or stalk injury and may not recover after reoperation. Pituitary function in RCC can evolve over time and should be reassessed even after apparent surgical success.
Summary:Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of serum alkaline phosphatase due to loss-of-function mutations in the ALPL gene. Diagnosis confirmation, management, and follow-up of HPP are challenging, and clinical guidance is scant due to the difficulty in gathering high-level evidence. Asfotase alfa is the first long-term enzyme replacement therapy indicated in patients with pediatric-onset HPP to treat the bone manifestations of the disease. In the absence of large clinical studies, sharing clinical observations is an important source of information and support for clinicians. This article presents three case studies. A woman affected by HPP with manifestations of the disease at pediatric age began asfotase alfa therapy at the age of 43 years, resulting in improvements in bone density and epilepsy management. A man diagnosed with HPP in childhood had a severely compromised quality of life. He experienced improvements in bone fragility, respiratory function, sleep quality, and physical function with asfotase alfa therapy. Finally, a woman with infantile-onset HPP, presenting with severe bone deformity, musculoskeletal pain, pseudofractures, and cardiovascular and neurological involvement, showed radiological and clinical improvements in bone health, reduced pain, and increased walking autonomy during asfotase alfa treatment. Learning points:Delayed diagnosis of HPP is common and can cause morbidity. Asfotase alfa significantly improves clinical outcomes in childhood-onset HPP, even when initiated in adulthood. Asfotase alfa therapy provides benefits beyond bone health. Monitoring treatment response requires a comprehensive clinical evaluation beyond DXA measurements. Real-world clinical experience is crucial for optimizing treatment strategies for HPP.
Summary:We report the case of a 37-year-old woman who presented with hyperemesis gravidarum at 11 weeks of gestation. Laboratory examination revealed severe thyrotoxicosis (TSH: <0.005 μIU/mL, FT3: 12.95 pg/mL, FT4: 3.93 ng/dL) with negative anti-TSH receptor antibody, while serum human chorionic gonadotropin (hCG) was markedly elevated at 198,983 mIU/mL. She was diagnosed with gestational transient thyrotoxicosis (GTT), although the presence of thyroid-stimulating antibody raised suspicion for concomitant Graves' disease (GD). Because of severe and clinically burdensome thyrotoxic symptoms, including excessive sweating and weight loss, propylthiouracil therapy was initiated, but thyrotoxicosis recurred after 20 weeks of gestation alongside elevated serum hCG levels, prompting a switch to thiamazole. Genetic testing revealed no TSHR mutations. Postpartum, both hCG and thyroid hormone levels normalized without treatment. During the second pregnancy, she experienced a miscarriage at nine weeks. During the third pregnancy, an elective abortion was performed due to a fetal genetic disorder. Both pregnancies were marked by severe thyrotoxicosis, consistent with GTT. During the fourth pregnancy, at 11 weeks, she developed hyperemesis gravidarum and was diagnosed with GTT. The persistently elevated thyroglobulin levels (>200 ng/mL; reference range:, <33.7 ng/mL) were also compatible with a possible contribution from painless thyroiditis (PT). Serum hCG levels normalized after the second trimester. Recurrent and sustained thyrotoxicosis during pregnancy across multiple pregnancies in the same patient is rare and requires careful differentiation among possible etiologies, including GTT, GD, and PT. This case underscores the importance of comprehensive monitoring of placental function, thyroid autoimmunity, and thyroiditis throughout pregnancy to ensure accurate diagnosis and tailored management for both mother and fetus. Learning points:The diagnosis of recurrent thyrotoxicosis in pregnancy is complex, as distinct entities can overlap clinically. Comprehensive phenotyping - incorporating thyroid autoantibodies, serum hCG, Tg, and ultrasound - guides diagnosis; reserve TSHR testing for atypical or persistent cases. Careful longitudinal monitoring across pregnancies enables optimized maternal-fetal outcomes.
Summary:Thyroid eye disease (TED) is the most common extrathyroidal manifestation of Graves' disease, with an incidence of approximately 1.9 cases per 10,000 inhabitants per year. Its pathophysiology involves an autoimmune response mediated by TSH receptor antibodies (TRAbs), leading to inflammation, fibroblast activation, and orbital tissue remodeling. Although TED typically becomes inactive within 1-3 years, 5-10% of patients experience recurrences. Persistence or reactivation after total thyroidectomy is uncommon, and published reports remain limited. We report a 56-year-old man with Graves' disease diagnosed in 2020 and multiple TED reactivations treated with intravenous methylprednisolone. In 2022, he was diagnosed with low-risk papillary thyroid carcinoma (T1a N0 M0) and underwent total thyroidectomy; radioiodine therapy was withheld due to orbitopathy. Despite complete surgery, he developed a new reactivation in November 2023. In March 2025, he presented with ocular pain; active TED was confirmed with a CAS of 6/7 and moderate-to-severe EUGOGO classification. Laboratory tests revealed positive TRAbs and suppressed TSH. A multidisciplinary team recommended another steroid course followed by tocilizumab. TED reactivation after thyroidectomy is rare and challenges the rationale of antigen removal. Possible mechanisms include microscopic residual thyroid tissue or persistent TRAb activity. Similar reports are limited, and this appears to be the first case described in Colombia. This case highlights the need for multidisciplinary management and the potential role of immunomodulators such as tocilizumab in refractory post-thyroidectomy TED. Further research is needed to clarify factors contributing to disease persistence. Learning points:TED reactivation can occur even after total thyroidectomy, challenging the traditional belief that removing the thyroid eliminates antigenic stimuli. Persistently elevated TRAb levels or microscopic residual thyroid tissue may contribute to post-surgical disease activity. Early thyroidectomy does not guarantee sustained TED remission, especially in cases with severe or recurrent activity. Multidisciplinary involvement is essential, particularly in complex cases involving both autoimmune disease and thyroid carcinoma. Tocilizumab represents a valuable second-line option for TED refractory to glucocorticoids, aligning with emerging evidence for immunomodulatory therapies. This is the first case reported in Colombia with these clinical characteristics, highlighting the rarity and importance of awareness.
Summary:Adult medulloblastoma is a rare cerebellar tumour with an incidence of 0.6-1 per million per year in post-pubertal patients. Craniospinal radiotherapy is a key component of treatment. Endocrine organs commonly involved in the radiation field - such as the hypothalamus, pituitary and thyroid gland - are particularly sensitive to radiation-induced damage, often resulting in hormonal deficiencies in a dose-dependent manner. We report the case of a 43-year-old woman who developed both hypopituitarism and primary hypothyroidism following craniospinal radiotherapy for medulloblastoma at the age of 34. She was diagnosed with primary hypothyroidism two years later. Seven years later, hormonal substitution therapy was started for menopausal symptoms, and nine years later, she presented with persisting long-standing fatigue, amenorrhoea, nausea upon waking, vomiting and anorexia. Laboratory testing was suggestive of hypopituitarism. Dynamic testing confirmed severe growth hormone deficiency but a normal cortisol response. Thyroid-releasing hormone stimulation test revealed a blunted and delayed response. Magnetic resonance imaging revealed significantly reduced pituitary height over time. Although radiation-induced endocrine dysfunction is well documented in children, its prevalence in adult populations also reaches 50%, and its clinical significance is increasingly recognised. Despite the common occurrence of hypothalamic-pituitary axis dysfunction and primary hypothyroidism following craniospinal irradiation, their simultaneous presentation provides an important educational example of the complex and multifaceted endocrine effects of radiation exposure. This paper highlights the importance of minimising radiation dose on these endocrine glands, as well as long-term multidisciplinary follow-up and screening after craniospinal radiotherapy. It also raises the question whether pituitary evaluation on surveillance imaging could help predict pituitary dysfunction, a possibility that warrants further exploration. Learning points:Hypopituitarism and primary hypothyroidism are common complications following craniospinal irradiation, but symptoms are often insidious and progressive. Pituitary and thyroid dysfunction post-craniospinal radiotherapy is dose-dependent, underscoring the importance of minimising radiation dose to these endocrine organs. Structured endocrine screening and lifelong multidisciplinary follow-up are valuable for early detection and treatment. Routine brain surveillance imaging with pituitary gland assessment might aid in predicting pituitary dysfunction, but its exact role and correlation need to be elucidated.
Summary:Non-islet cell tumor hypoglycemia (NICTH) is a rare paraneoplastic syndrome typically associated with mesenchymal or epithelial tumors that secrete insulin-like growth factor 2 (IGF-2). Breast tumors are an unusual cause of IGF-2-mediated hypoglycemia. We report the case of a 55-year-old woman with a large, fungating phyllodes tumor of the right breast who experienced recurrent fasting hypoglycemia. Biochemical evaluation during hypoglycemic episodes revealed suppressed insulin, C-peptide, β-hydroxybutyrate, and IGF-1, with normal IGF-2 levels but an elevated IGF-2:IGF-1 ratio. Imaging demonstrated a large necrotic breast mass, and subsequent histopathology confirmed a borderline phyllodes tumor with positive IGF-2 immunostaining. Following surgical resection, the patient's hypoglycemia resolved completely. This case highlights the importance of considering NICTH in patients with unexplained hypoglycemia and large tumors, even when IGF-2 levels are not elevated. Diagnosis may require immunohistochemistry or evaluation of the IGF-2:IGF-1 ratio. Surgical excision remains the definitive treatment. Learning points:Non-islet cell tumor hypoglycemia (NICTH) should be considered in patients with recurrent fasting hypoglycemia and a large tumor, even when IGF-2 levels are within the normal range. An elevated IGF-2:IGF-1 ratio can be a key diagnostic clue for IGF-2-mediated hypoglycemia and may be more reliable than absolute IGF-2 levels. Surgical resection of the tumor is typically curative in NICTH and should be prioritized when feasible, with resolution of hypoglycemia serving as both a diagnostic and a therapeutic confirmation.
Summary:Neurofibromatosis type 1 is an autosomal dominant disease characterized by cutaneous, bone, and neurocognitive manifestations and an increased risk of neoplasms - more frequently cutaneous neurofibromas and optic gliomas and more rarely pheochromocytomas/paragangliomas, solitary parathyroid adenomas with primary hyperparathyroidism, and breast carcinomas. We present a case of a 48-year-old woman with an unexpected presentation of Takotsubo syndrome that culminated in a synchronous diagnosis of pheochromocytoma, primary hyperparathyroidism, and invasive breast carcinoma (pN2(R0)N1) in the context of previously unknown neurofibromatosis type 1. The patient underwent simultaneous right adrenalectomy and lower parathyroidectomy nearly one month after left lumpectomy with axillary ganglion dissection. No complications were reported after adequate alpha- and beta-adrenergic blockade before or during both surgical interventions. Furthermore, after definitive treatment of catecholamine hypersecretion, postoperative chemoradiotherapy was required. Our case highlights the importance of differential diagnosis with multiple endocrine neoplasia type 2 and the relevance of multidisciplinary teams in the management of complications associated with neurofibromatosis type 1, namely those related to neoplasms. Learning points:Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterized by cutaneous, bone, and neurocognitive manifestations and an increased risk of neoplasms, namely pheochromocytomas/paragangliomas, solitary parathyroid adenomas, and breast carcinomas. Pheochromocytomas/paragangliomas (PPGLs) occur in up to 15% of patients. Pheochromocytomas can rarely present as Takotsubo syndrome (TS), and the occurrence of TS in NF1 patients is even rarer. In addition, the co-occurrence of PPGLs and primary hyperparathyroidism (PHPT) in NF1 is very infrequent, mimicking MEN 2A syndrome. This is the first case described in the literature of a patient with NF1 and a synchronous diagnosis of pheochromocytoma, PHPT, and breast carcinoma, highlighting the relevance of a high level of suspicion of all the nosological entities that can be associated with NF1 in order to allow an early diagnosis.
SummaryWe present a case of recurrent thymic neuroendocrine neoplasm (NEN) in a 43-year-old male, who developed ectopic Cushing syndrome (CS), 8 years after his initial diagnosis. Due to persistent biochemical hypercortisolism and clinical symptoms of CS, he was trialled on multiple adrenal steroidogenesis inhibitors with surgical resection and radiotherapy. Eventually, he was transitioned to osilodrostat, a new potent adrenal steroidogenesis inhibitor. Following multidisciplinary discussion, he underwent peptide receptor radionuclide therapy (PRRT). After 12 months of therapy, his cortisol levels have normalised. This is a novel case of functional thymic NEN that was biochemically responsive to osilodrostat and PRRT. Osilodrostat predominantly blocks 11-β hydroxylase leading to a reduction in biochemical hypercortisolism and improvement in clinical manifestations. Initial evidence supported its role in the setting of Cushing’s disease. There is growing evidence for its use in the setting of ectopic CS as observed with our case. PRRT continues to have a role in the setting of functional NENs. Learning pointsEctopic CS is a rare, functional syndrome most often seen with neuroendocrine tumours.Management relies on treatment of the primary pathology as well as hypercortisolism, for which there are new novel agents available including osilodrostat.Directed therapies such as peptide receptor radionuclide therapy can have favourable outcomes in addressing metabolic and biochemical disease in the setting of ectopic CS.
Summary:Adrenocortical carcinomas (ACCs) are a very rare entity with an incidence of approximately 0.5-2 cases per million per year. They are often difficult to diagnose clinically, attributing to non-specific signs and symptoms, especially with non-functioning tumours, with histopathology required for confirmatory diagnosis. Atraumatic adrenal haemorrhage has been described in the literature as a rare presentation of ACC. We describe a case of a gentleman in his fifties presenting with acute spontaneous unilateral adrenal haemorrhage on a background of a pre-existing known incidental adrenal nodule that was lost to follow-up. The patient underwent angio-embolisation and subsequent laparoscopic adrenalectomy, with histopathology demonstrating ACC. This report aims to highlight adrenal haemorrhage as a presenting feature of ACC and stress the importance of close follow-up and thorough initial investigation of adrenal nodules to ascertain their underlying aetiology and ultimately prevent delay in appropriate management. Learning points:Follow-up is essential for adrenal nodules with unclear aetiology to ensure timely investigation and risk stratification, preventing potential harm from delayed management of non-benign conditions. Spontaneous adrenal haemorrhage is a rare but potential presentation of ACC. There needs to be a high index of suspicion for malignancy with atypical presentations of adrenal nodules. Adjuvant mitotane may not improve recurrence and overall survival in low-risk patients, but may be indicated in patients at a higher risk of recurrence.
Summary17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, inherited in an autosomal recessive manner. The CYP17A1 gene on chromosome 10 encodes cytochrome P450c17, a single bifunctional enzyme with both 17α-hydroxylase activity (essential for cortisol synthesis) and 17,20-lyase activity (essential for sex steroid synthesis). Mutations in CYP17A1 can impair either or both activities, resulting in a clinical spectrum ranging from combined 17α-hydroxylase/17,20-lyase deficiency to isolated 17,20-lyase deficiency. We report a case of three siblings, all raised as females, who presented with bilateral inguinal swellings at variable ages in early childhood. The karyotype was 46,XY in all three siblings, and genetic testing confirmed a homozygous CYP17A1 mutation. Initially labeled as combined 17α-hydroxylase/17,20-lyase deficiency, the clinical course and preserved cortisol levels favored isolated 17,20-lyase deficiency, a rarer variant within the same enzyme spectrum. All three children subsequently underwent gonadectomy, were reared as females, and were planned for estrogen replacement therapy at puberty. This case was particularly challenging as all three siblings were affected, causing significant emotional and psychosocial distress for the parents. A multidisciplinary approach was adopted, and gender of rearing was assigned early with great sensitivity and ethical caution, in alignment with our cultural context, where parents are the primary decision-makers. Learning pointsThe clinical course may evolve over time, refining the initial diagnosis, as seen in our patients, where follow-up biochemical evaluation clarified the presence of isolated 17,20-lyase deficiency despite an initial genetic finding consistent with combined 17α-hydroxylase/17,20-lyase deficiency.Consanguinity significantly increases the recurrence risk of rare autosomal recessive disorders, as demonstrated in this family; this highlights the crucial role of early genetic testing, familial screening, and genetic counseling in high-risk populations.Management of disorders of sex development (DSD) within individual cultural settings requires sensitivity, ethical caution, and multidisciplinary coordination tailored to the cultural practices ensuring that decisions around sex of rearing prioritize both medical appropriateness and long-term psychosocial well-being.
Summary:The simultaneous occurrence of parathyroid carcinoma, parathyroid adenoma, and papillary thyroid carcinoma is exceptionally rare. Herein, we present an uncommon case in which the right malignant parathyroid lesion was 99mTc-MIBI-negative and the contralateral benign parathyroid lesion was 99mTc-MIBI-positive, which was confirmed by pathological examination postoperatively. In addition, we performed bilateral internal jugular venous sampling of PTH (IJ PTH), and the results showed that the IJ PTH was higher on the side of 99mTc-MIBI-negative lesion than on the other side. These findings suggest that 99mTc-MIBI-negative lesions with ipsilateral high IJ PTH should be highly suspected of parathyroid carcinoma in the setting of patients with two suspicious parathyroid lesions detected by cervical ultrasonography or computed tomography. No germline mutations associated with hereditary endocrine tumors were identified by whole-exome sequencing. Learning points:Parathyroid carcinoma can appear negative on 99mTc-sestamibi scintigraphy; therefore, comprehensive evaluation with both ultrasound and computed tomography is essential. In cases with discordant imaging and multiple lesions, bilateral internal jugular venous parathyroid hormone sampling serves as a decisive adjunct to guide en bloc resection when carcinoma is suspected. Preoperative evaluation for concurrent thyroid nodules is recommended during parathyroid surgery planning to avoid the need for secondary neck procedures.
Summary:Thyroid storm is a life-threatening endocrine emergency characterized by severe thyrotoxicosis and multisystem decompensation. Cardiovascular involvement is common and the leading cause of mortality, most commonly presenting with atrial fibrillation or high-output heart failure. Malignant ventricular arrhythmias, however, are exceedingly rare, reported in 0.07% of hospitalizations for thyroid dysfunction and 13% of patients with thyroid storm admitted to intensive care units. We present a case of a previously healthy young woman with uncontrolled Graves' disease who developed out-of-hospital cardiac arrest due to ventricular fibrillation. Coronary angiography revealed diffuse coronary vasospasm without obstructive coronary artery disease, suggesting myocardial ischemia as the precipitating mechanism. She achieved complete neurological and hemodynamic recovery following resuscitation, initiation of antithyroid therapy, beta-blockade, corticosteroids, and restoration of euthyroidism. This case underscores the potential of thyroid storm to induce life-threatening ventricular arrhythmias through a combination of coronary vasospasm, sympathetic overactivity, and altered myocardial excitability. Recognition of thyrotoxicosis as a potential cause of cardiac arrest is crucial, particularly in patients without structural heart disease, since early diagnosis and timely treatment are key to survival and prevention of recurrence. Learning points:Ventricular fibrillation and cardiac arrest, even in patients without structural heart disease, can be a presentation of thyroid storm. Coronary vasospasm represents a potential mechanism linking thyrotoxicosis to malignant ventricular arrhythmias. Prompt recognition and restoration of euthyroidism are essential for reversing hemodynamic instability and preventing recurrence. Nonadherence to antithyroid therapy remains a major preventable trigger of thyroid storm.
SummaryWe report a female Chinese neonate with antenatal rickets and secondary hyperparathyroidism who was found to have novel compound heterozygous TRPV6 variants (c.1160G>A and c.658C>T). She was treated with calcium, phosphate and vitamin D supplementation, achieving full biochemical and radiographic recovery by age two years. The review of all 14 reported cases confirms a consistent phenotype of neonatal secondary hyperparathyroidism with universal parathyroid hormone (PTH) elevation, frequent fractures and respiratory distress. Excellent outcomes are achieved with supplementation. The correlation between vitamin D deficiency and hypocalcaemia in these neonates suggests that maternal vitamin D status may modify disease severity. Learning pointsTRPV6 mutations should be considered a rare cause of neonatal prenatal rickets and secondary hyperparathyroidism, even in the presence of normocalcaemic hyperparathyroidism.Prognosis is excellent with early mineral and vitamin D supplementation.Multidisciplinary care is essential for diagnosis, management and follow-up.Maternal vitamin D status may modulate disease severity, suggesting that prenatal supplementation could be beneficial.
Drug-induced pancreatitis represents 1.1% of acute pancreatitis cases. To date, eight cases of antithyroid drug (ATD)-induced pancreatitis have been reported, including seven associated with methimazole (MMI) and one with carbimazole; however, no cases related to propylthiouracil (PTU) have been reported in the literature. We report a patient with thyroid storm who developed acute pancreatitis during MMI therapy, with recurrence following PTU substitution, suggesting cross-reactivity between antithyroid agents. The patient demonstrated elevated serum immunoglobulin G4 (IgG4) concentrations. The clinical presentation and imaging findings (onset during corticosteroid therapy and absence of specific computed tomography findings) supported a diagnosis of drug-induced rather than IgG4-related autoimmune pancreatitis. However, IgG4-mediated autoimmune hyperactivity may predispose to immunological cross-reactions between antithyroid drugs. In patients with MMI-induced pancreatitis and elevated IgG4 levels, PTU cross-reactivity should be anticipated. Alternative therapies, including potassium iodide, radioactive iodine ablation, or thyroidectomy, warrant consideration when immunological dysfunction is suspected based on elevated IgG4 concentrations.
Summary:A 65-year-old male with poorly controlled type 2 diabetes mellitus presented with 7 months of progressive hoarseness of voice, fever, anorexia, cough, and weight loss. Just before admission, he developed drowsiness and memory impairment. Examination showed a drowsy but stable patient without meningeal signs and hyperpigmentation. Persistent hoarseness prompted laryngoscopy, which revealed a vocal cord nodule. Imaging demonstrated bilateral adrenal enlargement with hypodense lesions in liver, pancreas, spleen, and kidney. Hormonal evaluation showed preserved adrenal function. Histopathological examination of vocal cord tissue and an adrenal biopsy confirmed the diagnosis of disseminated histoplasmosis. The patient was treated with antifungal therapy. Over 18 months of therapy, adrenal function remained normal, renal function stabilized, and urinary histoplasma antigen became undetectable. Glycemic control improved on oral hypoglycemic agents, vocal recovery occurred with therapy, and the patient achieved long-term clinical stability. Learning points:Disseminated histoplasmosis can present with hoarseness, fever, weight loss and multi-organ involvement. Adrenal enlargement is common but may not always cause insufficiency. Histopathology and fungal stains (PAS, GMS, and LPCB) are diagnostic gold standards. High clinical suspicion is needed in endemic regions or immunocompromised hosts.
Summary:We report a case of a 48-year-old man newly diagnosed with type 2 diabetes mellitus (T2DM), presenting with a critically elevated HbA1c of 10.3%, who achieved near-normal glycaemic control (HbA1c 6.0%) through a structured, three-month lifestyle intervention without initiation of any antidiabetic pharmacotherapy. The intervention entailed aerobic and resistance exercise, nutritional counselling, weekly coaching, and continuous activity monitoring. Notably, body weight remained constant (∼98.4 kg; BMI:31.8 kg/m2), while significant improvements occurred in body composition: -3.2 kg fat mass, -1.2 L visceral fat, +1.5 kg skeletal muscle, and -5 cm waist circumference. This case underscores the potential for non-pharmacological remission in patients with high baseline glycaemic dysregulation and supports early implementation of structured lifestyle programmes in clinical practice despite significantly elevated HbA1c. Learning points:Lifestyle interventions can be highly effective: structured modifications alone reduced HbA1c from 10.3 to 6.0%. Remission without pharmacotherapy: even patients with markedly elevated HbA1c may achieve remission through non-drug strategies. Improved body composition: a reduction in visceral fat and glucosuria and an increase in muscle mass resulted in stable weight. Support enhances adherence: regular monitoring and psychological coaching improved motivation and sustainability. Implications for practice: early structured programmes may reduce reliance on pharmacotherapy and improve healthcare sustainability.
Summary:The management of differentiated thyroid cancer with radioactive iodine (RAI) in patients with end-stage renal disease (ESRD) on haemodialysis is particularly challenging because of impaired iodine clearance, prolonged radiation exposure and safety concerns for healthcare personnel. We present the case of a 54-year-old male on thrice-weekly maintenance haemodialysis who was incidentally diagnosed with papillary thyroid carcinoma during pre-transplant assessment. He underwent total thyroidectomy followed by adjuvant RAI ablation, planned on the basis of the available literature. A reduced dose of 50 mCi (1.85 GBq) was administered after stimulation with recombinant human TSH, and dialysis was scheduled at 48 h post-therapy to optimize uptake, with additional sessions on Days +3 and +6. Ablation was successful, with iodine-avid tissue seen on post-therapy imaging and no significant complications observed. This case demonstrates that with individualized dosing, tailored dialysis scheduling and multidisciplinary coordination, RAI ablation can be performed safely and effectively in patients with ESRD on haemodialysis, despite the absence of standardized guidelines. Learning points:A reduced radioactive iodine (RAI) dose can achieve successful ablation in dialysis-dependent patients, minimizing systemic radiation exposure and marrow toxicity without compromising efficacy. The timing of the first haemodialysis session after RAI administration is critical to ensure effective thyroidal ablation while minimizing radiation toxicity. There are no standardized guidelines for RAI ablation in end-stage renal disease (ESRD) patients on haemodialysis, necessitating case-by-case multidisciplinary planning.
Summary:We report three obese patients with type 2 diabetes and alcohol-associated liver disease (ALD), including one patient with alcohol use disorder, who exhibited reduced alcohol intake after the initiation of tirzepatide. Although tirzepatide has shown beneficial effects on liver fibrosis in metabolic dysfunction-associated steatohepatitis, its effect on ALD or alcohol intake has not been reported. After the initiation of tirzepatide, all patients demonstrated decreased alcohol consumption, improved liver function, and better metabolic control. These findings suggest that tirzepatide can provide additional benefits for ALD by reducing alcohol intake while improving metabolic risk factors, potentially offering a novel therapeutic option for this high-risk population. Learning points:The interaction between alcohol consumption and metabolic risk factors in liver disease is bidirectional, necessitating concurrent improvement of both aspects. Treatment with tirzepatide for type 2 diabetes was associated with reduced alcohol consumption in our cases. Tirzepatide might represent an optimal therapeutic option for patients with alcohol-associated liver disease and type 2 diabetes given its potential to reduce alcohol consumption and ameliorate metabolic risk factors.
