Case Reports in Endocrinology最新文献

Background: Reports of long-survival patients (>10 years) with metastatic adrenocortical carcinoma (ACC) and prolonged treatment with mitotane alone (>5 years) are rare. We present four patients treated for low tumour burden (LTB) metastatic ACC using multidisciplinary approaches, including long-term mitotane, who maintained a relatively good life quality for over 10-year survival.

Case series presentation: Four patients (one female) aged 34-52 years underwent adrenalectomy for ACC between 2004 and 2013. Two patients presented only with flank pain, while two presented with overt Cushing's Syndrome. Ki-67 index ranged from <1% to 37%, and European Network for Study of Adrenal Tumour (ENSAT) tumour stage ranged from 2 to 3. Time to first recurrence ranged from 8 to 48 months. Overtime, all patients experienced recurrent metastatic disease, mostly in lungs or liver. From 2008 to 2024, we recorded a total of two stereotactic ablative radiotherapies, one microwave and eight radiofrequencies ablations, 10 liver and eight lung resections and three selective excisions for other abdominal metastases. Mitotane treatment lasted from 7.7 to 12.9 years, with mitotane average dose and plasma levels equal to 2.6 ± 0.9 g/day (±standard deviation) and 20.4 ± 5.3 mg/L, respectively. Our patients developed different degrees of mitotane-induced hypothyroidism, hypogonadism, hypercholesterolaemia and mineralocorticoid insufficiency as well as episodes of neurologic and gastrointestinal side effects, which were countered with continuous dose adjustments, hormonal replacement therapies and specific treatments. Specialist nurses provided continuous support for mitotane dose titration and management of mitotane-induced adverse effects. All the patients were still taking mitotane at last available follow-up visit without radiological evidence of tumour manifestations, with a follow up duration ranging from 11.5 to 20 years from initial surgery.

Conclusion: Metastatic ACC should be managed by multidisciplinary tailored approaches, including close surveillance and local therapies (LT). In patients with LTB, prolonged mitotane therapy can represent a safe option to slow down disease progression and contribute to prolonging survival.

Background: Syndrome of inappropriate antidiuretic hormone (SIADH) is a common cause of hyponatraemia that requires systematic investigation to identify underlying aetiologies. Central nervous system disorders represent an important but often underrecognised cause, particularly when patients present with non-specific gastrointestinal symptoms.

Case presentation: A 50-year-old woman presented with a 3-year history of intermittent nausea and vomiting that worsened over 20 days. Laboratory investigations revealed persistent hyponatraemia (serum sodium 125.4 mmol/L), low plasma osmolality (268.58 mOsm/kg H₂O) and inappropriately elevated urine sodium (>40 mmol/L). Brain magnetic resonance imaging (MRI) demonstrated obstructive hydrocephalus with cerebellar tonsillar herniation, while magnetic resonance venography (MRV) showed stenosis of the right transverse sinus, sigmoid sinus and internal jugular vein.

Management and outcome: The patient was diagnosed with SIADH secondary to intracranial pathology. Treatment with fluid restriction (500-1000 mL/day) and oral salt supplementation (gradually increased to 2.5 g/day) successfully increased serum sodium to 130 mmol/L. Neurosurgical consultation recommended conservative management given the likely congenital developmental abnormalities. After 3 years of follow-up, the patient remains clinically stable with ongoing monitoring. Recent urine osmolality testing (611 mOsm/kg H₂O) confirmed the SIADH diagnosis.

Learning points: This case demonstrates the importance of neuroimaging in unexplained SIADH and highlights practical diagnostic strategies when standard laboratory parameters like urine osmolality are unavailable. Central nervous system abnormalities should be systematically investigated in patients with persistent hyponatraemia and non-specific symptoms. Conservative management with fluid restriction and salt supplementation can be effective for mild-to-moderate SIADH cases.

Pseudohypoparathyroidism (PHP) is a metabolic disorder that occurs due to target end-organ resistance to parathyroid hormone (PTH). It is a rare cause of severe symptomatic hypocalcemia as it characteristically manifests with high phosphate and low calcium. The clinical presentation, biochemical features, and severity vary from patient to patient leading to delay in diagnosis. Reduced awareness and lack of recognition of this rare clinical syndrome coupled with limited resources in rural health facilities also contribute to missed or late diagnosis. Reported here is a case of a 13-year-old girl who presented in a rural county hospital with a 1-year duration of muscle twitching and persistent headache. She had been managed with anticonvulsant therapy without resolution. Upon admission to our facility calcium levels were noted to be very low with high phosphate, high PTH levels, and normal vitamin D levels. The brain CT scan revealed calcifications in the basal ganglia. A diagnosis of PHP was henceforth made. She was put on intravenous calcium gluconate with subsequent oral calcium and calcitriol with resultant resolution of twitching. This case points to delayed diagnosis of a rare cause of symptomatic hypocalcemia signifying importance of early biochemistry testing and careful interpretation in a patient presenting with persistent twitching in low-resource set ups.

While sodium-glucose cotransporter 2 (SGLT2) inhibitors provide substantial benefits for glycemic control and reduced cardiovascular and renal risks, they are also associated with an increased risk of diabetic ketoacidosis (DKA) because they stimulate lipolysis. Severe thyrotoxicosis, including thyroid crisis, is a recognized cause of DKA because it promotes lipolysis and increases ketone production. Here, we report the case of a 62-year-old man with type 2 diabetes and poor glycemic control who was taking an SGLT2 inhibitor and developed DKA associated with painless thyroiditis. The blood glucose and 3-hydroxybutyric acid levels normalized after initiation of insulin therapy and fluid infusions. The thyroid function normalized without additional treatment and remained stable during follow-up. The findings in this case indicate that thyrotoxicosis may amplify the risk of DKA in the presence of the ketogenic state triggered by SGLT2 inhibitor therapy, even when the thyrotoxicosis does not reach the severity of thyroid crisis, due to the interplay with the lipolytic metabolic changes induced by thyrotoxicosis. With the increasing use of SGLT2 inhibitors, careful monitoring is essential because these medications can lower the threshold for DKA, even when triggered by minor metabolic disturbances, particularly in patients with poorly controlled glycemia.

Lorlatinib, a tyrosine kinase inhibitor used in anaplastic lymphoma kinase (ALK)-positive non-small cell lung cancer (NSCLC), is associated with adverse events, including hyperglycemia. We present a case of a 52-year-old male with stage IV NSCLC and brain metastases who developed diabetic ketoacidosis (DKA) following lorlatinib initiation. The patient, without prior diabetes, presented with hyperglycemia (792 mg/dL), metabolic acidosis, and ketonuria 2 months after starting lorlatinib. He was treated for DKA and subsequently transitioned to a basal-bolus insulin regimen. Lorlatinib was withheld transiently and restarted once acute symptoms resolved. This case, along with three reported cases of lorlatinib-induced hyperglycemia, highlights a rare but serious potential complication. The mechanism of lorlatinib-induced hyperglycemia is unclear but may involve reduced insulin secretion. This case underscores the importance of monitoring for hyperglycemia in patients receiving lorlatinib, even in the absence of pre-existing diabetes, to enable early detection and prevent life-threatening complications like DKA.

Background: Acromegaly, a rare endocrine disorder characterised by excess growth hormone (GH) and insulin-like growth factor 1 (IGF-1), is often due to GH-secreting pituitary adenomas. Pasireotide, a second-generation somatostatin receptor ligand (SRL), binds to multiple somatostatin receptors (SSTRs) and offers a promising alternative for patients unresponsive to first-generation SRLs like octreotide and lanreotide.

Case series: This report examines five acromegaly patients treated with pasireotide in Qatar after the failure of a first-generation SRL to normalise IFG-1 levels. Patient 1, a 39-year-old male with hyperprolactinaemi+a and acromegaly who underwent multiple therapies including surgery and radiotherapy, showed tumour size reduction and IGF-1 control with pasireotide. Patient 2, 48-year-old male with a significant macroadenoma and prior cabergoline treatment, achieved partial biochemical control. He developed Type 2 diabetes mellitus, which was managed with metformin/sitagliptin. Patient 3, a 41-year-old male, experienced dramatic symptom resolution and weight loss after switching to pasireotide, significantly improving his quality of life, with a reduction in tumour size. Patient 4, 52-year-old female, despite initial side effects on pasireotide, achieved normalisation in IGF-1 levels and resolution of active symptoms, with a significant reduction in tumour size. Patient 5, a 38-year-old female, after persistent elevation of IGF-1 on octreotide, responded well to pasireotide with a significant reduction in IGF-1. In all five cases switching to pasireotide demonstrated marked efficacy by normalising IGF-1 and eliminating acromegaly symptoms within the first months of treatment. Four out of these five patients showed reduction in tumour size.

Conclusion: This case series corroborates the findings from previous studies, adding insight into treatment challenges and benefits experienced by this heterogeneous group of patients on pasireotide.

Introduction: Acute pancreatitis (AP) and diabetic ketoacidosis (DKA) can influence each other, and diagnosing AP in DKA patients is challenging due to overlapping symptoms and laboratory findings.

Case presentation: This case series discusses two adolescents with type 1 diabetes who presented with severe abdominal pain and were diagnosed with both DKA and AP. Both had a history of poor medication adherence. Initial labs showed hyperglycemia, acidosis, and elevated pancreatic enzymes. While DKA symptoms resolved quickly, abdominal pain persisted and imaging confirmed pancreatitis. Treatment included fluids, insulin, pain management, and symptoms management for pain as well as the use of antibiotics and total parenteral nutrition (TPN). Both patients improved gradually and were discharged with advice for better diabetes control.

Conclusion: Diagnosing AP in DKA is difficult because of similar symptoms and laboratory findings. Imaging can help but is not always definitive. Unnecessary pancreatic enzyme testing and the use of antibiotics, opioid analgesia, and TPN treatments, if not clinically indicated, should be avoided.

Systemic lupus erythematosus (SLE) is an autoimmune, multisystemic connective tissue disease with a predilection for women in their reproductive age group. Hashimoto's thyroiditis (HT) is a chronic autoimmune-mediated inflammation of the thyroid gland. The coexistence of SLE with HT has been reported in the literature. However, this important coexistence has scarcely been reported in sub-Saharan Africa. Hence, we report two patients who presented with HT coexisting with SLE.

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic bone disorder characterized by mutation in the tissue nonspecific isoenzyme of alkaline phosphatase (ALP) (TNSALP). Perinatal HPP is the most severe type of HPP, primarily characterized by respiratory distress.

Case presentation: A 2-month-old female infant, born to consanguineous parents with intrauterine limb hypoplasia, sustained a clavicular fracture on day one. She was referred and admitted to the neonatal intensive care unit on day 20 of her life due to the development of seizures and respiratory distress. She presented with short limbs, skeletal hypomineralization, thoracic and pulmonary hypoplasia, hypercalcemia, and ALP levels below the limit of detection (LOD). Severe perinatal HPP was confirmed through genetic analysis. Consequently, she was treated with enzyme replacement therapy (ERT) using asfotase alfa.

Conclusion: Our case emphasized the need for proper diagnosis of severe perinatal HPP to initiate life-saving ERT after delivery. Cooperation between obstetricians and clinical genetics teams is essential to avoid delayed or misdiagnosis.

Parathytomatosis is a rare cause of persistent or recurrent hyperparathyroidism, defined by the presence of hyperfunctioning parathyroid tissues scattered throughout the neck and mediastinum. Preoperative diagnosis and localization of all the seeded parathyroid tissue is difficult, therefore, many imaging modalities are needed to determine the localization of these lesions for a more successful outcome. We report a case of a young girl with a severe primary hyperparathyroidism (PHPT) from a parathyroid adenoma, with renal and bone complications. She underwent parathyroidectomy and developed 2 years later recurrent disease in the form of parathyromatosis. We review the different tools for diagnosis and management since this condition remains a challenging issue. To our best knowledge, this case is the youngest case described in the literature and highlights the difficulties of management of parathyromatosis and the potential complications that may ensue from this disease.