Endocrinology, Diabetes and Metabolism Case Reports最新文献

Summary: Thyroid stimulating hormone (TSH)-secreting PitNETs, also called TSHomas, are rare benign pituitary tumors with an incidence of 1.0 per million population. They are generally diagnosed in the context of central hyperthyroidism and/or mass-effect central symptomatology (e.g. headache, bitemporal hemianopsia, and panhypopituitarism). Although TSHomas are more often macroadenomas than microadenomas at the time of diagnosis, diagnosing TSHomas may be challenging because laboratory findings and clinical presentation are not always obvious. The treatment of choice is the surgical resection of the adenoma.

Learning points: TSHomas are mostly diagnosed as macroadenomas in the context of central hyperthyroidism and/or mass-effect central symptomatology. The classical pattern of central hyperthyroidism consists of elevated free thyroid hormones and inadequately normal or slightly increased TSH. If a TSHoma is suspected, the differential diagnosis of thyroid hormone resistance (RTH) must be excluded. Surgical resection is the first-line choice of therapy for TSHomas. In cases of non-operable lesions or postoperative residual tumors, pituitary fractionated stereotactic radiotherapy, radiosurgery, and/or medical treatment with somatostatin analogs can be considered as alternatives. The management of TSHomas must happen in an interdisciplinary way.

Summary: The diagnosis and management of Cushing's disease (CD) during pregnancy are challenging. Only a few cases of mixed pituitary adenomas secreting prolactin and ACTH have been reported, and none during pregnancy. We report the case of a 30-year-old woman who presented with galactorrhea, weight gain, hypertension, prediabetes, dorsal fat pad, and abdominal striae. Initial biochemical investigations revealed hyperprolactinemia with increased ACTH but no biochemical signs of hypercortisolism. Pituitary MRI showed a 10 mm pituitary adenoma, which was first considered a prolactinoma potentially co-secreting ACTH. Surgery was indicated, but the patient did not undergo treatment immediately due to lack of health insurance. Cabergoline monotherapy was initiated, with close follow-up advised until regularization of social status in Belgium. The patient was then lost to follow-up and presented 15 months later because of an early pregnancy with treatment-resistant hypertension. Biochemical evaluation during the first trimester led to the suspicion of ACTH-dependent cortisol excess and showed hyperprolactinemia despite ongoing cabergoline treatment. She underwent transsphenoidal surgery at 16 weeks of pregnancy, and pathological examination showed a single adenoma with two different cell components staining for PRL/PIT1 and ACTH/TPIT, respectively. Surgery was successful, the patient developed corticotrope insufficiency, and was able to stop antihypertensive drugs. Because of failed induction of labor (for gestational insulin-requiring diabetes), she underwent cesarean section at 39 weeks of pregnancy and gave birth to a healthy boy with no maternal or neonatal complications. Adrenal insufficiency recovered 12 months after surgery. Genetic testing for MEN1 and AIP was negative.

Learning points: Mixed ACTH- and PRL-secreting pituitary adenomas, although extremely rare, do occur and may lead to both Cushing's syndrome and galactorrhea/oligo- or amenorrhea syndrome. Cabergoline therapy is an option in such cases and may decrease both PRL and ACTH levels; however, its efficacy in controlling Cushing's disease is limited. Preconception counseling is essential in women of childbearing age suffering from secreting pituitary tumors. Management of prolactinoma during pregnancy usually includes cessation of dopamine agonists and close follow-up to detect tumor growth, especially during the third trimester. Diagnosis of Cushing's syndrome during pregnancy is challenging due to the physiological activation of the hypothalamic-pituitary-adrenal axis. Cushing's syndrome may worsen during pregnancy and is associated with severe maternal and fetal complications. Early diagnosis and treatment are essential to improve fetomaternal outcomes. Transsphenoidal surgery performed during the second trimester is an effective and safe treatment for ACTH-secreting adenomas during pregnancy.

Summary: We describe two rare cases of primary bilateral macronodular adrenal hyperplasia (PBMAH) with mild autonomous cortisol secretion (MACS), incidentally discovered and further evaluated for aberrant cortisol responses to various stimuli. In both patients, morning serum cortisol levels remained elevated following 1 mg dexamethasone suppression test (DST) and 4 mg intravenous DST, while basal adrenocorticotropic hormone (ACTH) levels were suppressed. However, 24 h urinary free cortisol and nocturnal salivary cortisol levels were within normal limits. The first case involved a 69-year-old woman who exhibited significant increases in cortisol in response to luteinizing hormone-releasing hormone (LHRH; +142%), vasopressin (+66%) and metoclopramide (+98%). Treatment with the long-acting GnRH agonist leuprolide acetate led to decreased cortisol production and normalization of ACTH levels. The second case, a 54-year-old woman, showed cortisol increases following stimulation with LHRH (+58%), cosyntropin (+1,016%) and vasopressin (+46%). However, leuprolide acetate treatment did not successfully control her hypercortisolism. These cases highlight the clinical relevance of identifying aberrant cortisol responses to specific stimuli in patients with PBMAH and MACS. Such findings may inform the use of targeted medical therapies as alternatives to unilateral or bilateral adrenalectomy. In addition, a more pronounced cortisol response to LHRH compared to other stimuli may predict a favorable response to GnRH agonist therapy.

Learning points: Systematic dynamic stimulation testing to assess cortisol response to a variety of stimuli should be offered to all patients with primary bilateral adrenal hyperplasia (PBMAH) with indication for treatment. Identification of an aberrant response suggesting potential overexpression of β-adrenergic or luteinizing hormone/chorionic gonadotropin receptors (LHCGRs) may allow the use of targeted medical therapies, instead of unilateral or bilateral adrenalectomy, to control the cortisol excess in a subset of patients. In patients with MACS who have an aberrant cortisol response following LHRH stimulation, the long-acting GnRH agonist leuprolide acetate can be used to suppress endogenous LH production and improve hypercortisolism. A greater increase in cortisol secretion following LHRH stimulation and small response to the other stimuli could potentially be predictive of a better response to treatment with leuprolide acetate.

Summary: Connshing syndrome, a distinct subtype of primary aldosteronism (PA), is characterized by the co-secretion of aldosterone and cortisol from an adrenal adenoma. This condition complicates diagnosis and treatment, as cortisol co-secretion can interfere with adrenal vein sampling (AVS), the gold standard for determining lateralization in PA. We present a case of a 57-year-old woman with resistant hypertension and an adenoma in the left adrenal gland, diagnosed with PA. During the investigation, cortisol co-secretion was identified. AVS results were confounded by this co-secretion, complicating the interpretation of lateralization. Despite this, a presumptive diagnosis of unilateral aldosteronism was made, leading to the decision for adrenalectomy. Postoperative analysis confirmed the resolution of PA and normalization of aldosterone and cortisol levels. This case emphasizes the diagnostic challenges posed by cortisol co-secretion, which can distort AVS results and complicate treatment decisions. Further research is necessary to improve diagnostic accuracy and develop tailored management strategies for patients with Connshing syndrome.

Learning points: As the number of adrenal incidentalomas identified through imaging increases, more cases of Connshing syndrome are likely to be uncovered during biochemical evaluation. The co-secretion of aldosterone and cortisol from adrenal adenomas can interfere with diagnostic tests such as AVS, leading to misinterpretation of lateralization and complicating treatment decisions. It is important to explore alternative markers to cortisol, such as plasma metanephrines, to improve AVS accuracy and guide management decisions in patients with Connshing syndrome.

Summary: A 3-week-old male infant presented with poor feeding, lethargy, and weight loss. Clinical examination revealed mildly elevated tachycardia, but otherwise there were no clinical signs evident. Initial investigations revealed hypercalcaemia, which was subsequently found to be secondary to transient thyrotoxicosis. Hypercalcaemia was managed with hyperhydration along with a low-calcium infant formula, and thyrotoxicosis responded to treatment with carbimazole. Serum calcium levels gradually normalised with resolution of the neonatal thyrotoxicosis and weight gain. Subsequently, all treatment was gradually weaned over 4 months. The infant remained clinically well on follow-up with normal growth, and his laboratory investigations normalised.

Learning points: Hypercalcaemia is a recognised complication of thyrotoxicosis. Evidence in the paediatric population is limited, and this is the first reported case of hypercalcaemia noted to occur secondary to neonatal thyrotoxicosis. Signs and symptoms of both hypercalcaemia and thyrotoxicosis can be non-specific and subtle. An awareness of the condition and a high index of suspicion are required in order to make the diagnosis. While asymptomatic neonatal hypercalcaemia may be transient and self-limiting, symptomatic patients require treatment with hyperhydration. Serum calcium levels in combination with parathyroid hormone, vitamin D, and urine calcium-creatinine ratios can help narrow the differential diagnoses, but it is important that the underlying cause is carefully investigated.

Summary: Extensive research has examined the effects of growth hormone (GH) replacement therapy for patients with hypopituitarism and GH deficiency. Positive outcomes, encompassing both conventional clinical markers and improvements in quality of life (QoL), have led to its incorporation in current clinical practice guidelines. Herein, we present how routine use of the patient-reported outcome measures information system (PROMIS) as an intuitive tool portraying patient-reported outcome measures (PROMs) can help guide and follow-up therapeutic decisions and bridge the gap between clinical parameters and patient experiences. This approach is illustrated by a patient with panhypopituitarism and HIV with low antiretroviral medication adherence. Following the initiation of GH replacement therapy, PROMIS assessments documented QoL improvements that enabled full resumption of antiretroviral medication, accompanied by resolution of previously experienced adverse effects.

Learning points: GH replacement can be an important component of hormone replacement therapy in individuals with hypopituitarism and suicidal ideations. Incorporating PROMs into endocrinological care can help guide therapy decisions in patients with hypopituitarism. Clinical signs attributed to side effects of antiretroviral therapy may overlap with those of GH deficiency, and GH replacement therapy can potentially increase medication adherence.

Summary: Intravascular large B-cell lymphoma is an uncommon haematological condition that may present with a variety of non-specific symptoms and signs. In this report, we discuss the case of a man in his 70s who presented with subacute cognitive and functional decline. Subsequent investigation revealed hyponatraemia secondary to syndrome of inappropriate antidiuresis (SIAD), as well as hypopituitarism. The underlying aetiology for his condition was not discovered until postmortem examination following his death from respiratory failure, which demonstrated intravascular lymphoma involving multiple organs, including the brain, dura and pituitary. As such, this case represents the challenging diagnosis of a rare cause of multiple endocrinopathies.

Learning points: Intravascular lymphoma is a rare diagnosis, often presenting with non-specific symptoms and biochemical derangements. This condition should be considered as a differential diagnosis for hypopituitarism, presenting in isolation or in combination with the syndrome of inappropriate antidiuresis. A broad and multisystem differential diagnosis should be considered for any patient presenting with endocrinopathy.

Summary: This case report describes a 55-year-old male with hypothyroidism who presented with chest pain, elevated cardiac biomarkers (creatine kinase-MB (CK-MB) and troponin T), and abnormal electrocardiogram (ECG), findings suggestive of acute coronary syndrome (ACS). Despite clinical suspicion of myocardial ischemia, coronary angiography revealed no significant coronary artery disease. Profound hypothyroidism, confirmed by markedly elevated thyroid-stimulating hormone (TSH) and anti-thyroid peroxidase antibodies, was identified as the underlying cause of the cardiac biomarker abnormalities. Treatment with thyroxine resulted in clinical improvement and normalization of cardiac markers. This case underscores the importance of considering hypothyroidism in the differential diagnosis of elevated cardiac enzymes and ischemic symptoms in the absence of coronary artery disease.

Learning points: Hypothyroidism should be considered in patients presenting with ischemic symptoms and elevated cardiac biomarkers, in the absence of coronary artery disease. Elevated CK-MB and troponin in hypothyroidism may result from non-cardiac mechanisms, posing significant diagnostic challenges. Thyroid function tests should be routinely included in the diagnostic evaluation of patients with atypical presentations of myocardial injury. Timely diagnosis and management of hypothyroidism can help avoid misdiagnosis and unnecessary invasive interventions.

Summary: Functional constipation is a common condition in infants. Phosphate-containing enemas (PCEs) are contraindicated in neonates due to the significant risk of severe electrolyte disturbances. We report a case of a 28-day-old neonate presenting with constipation and vomiting following the administration of PCEs. This resulted in hyperphosphatemia, hypocalcemia, and a prolonged QTc interval - critical conditions requiring urgent intervention. Management included hyperhydration, intravenous calcium gluconate, and oral alfacalcidol, which led to complete clinical recovery within 60 h. This case underscores the serious risks associated with inappropriate use of over-the-counter PCEs in neonates, even in the absence of underlying health conditions. It also highlights the importance of early recognition and effective supportive therapy to mitigate potential life-threatening complications.

Learning points: Irritability and ECG anomalies can be the only signs and symptoms of severe acute hyperphosphatemia after administration of PCE. Clinicians should be aware of the risk of severe acute hyperphosphatemia after PCE administration in infants, even without comorbidities, due to a low PTH status. When symptomatic hypocalcemia occurs, intravenous calcium administration is warranted, as the risk of life-threatening consequences from hypocalcemia significantly outweighs the risk of developing metastatic calcifications.

Summary: We report the case of a 62-year-old male who developed progressive lower limb and bulbar muscle weakness associated with elevated creatine kinase (CK) levels on a background of statin use following myocardial infarction. Electromyography, magnetic resonance imaging of thigh musculature, and muscle biopsy supported a diagnosis of necrotising myositis. Subsequently, antibodies to 3-hydroxy-3-methylglutaryl-CoA reductase were positive, confirming immune-mediated necrotising myositis (anti-HMGCR IMNM). An adrenal nodule detected on computed tomography of the thorax-abdomen and pelvis was confirmed to be a phaeochromocytoma following dedicated adrenal imaging and functional hormonal work-up, resulting in the second diagnosis. In-hospital treatment of the myositis consisted of intravenous immunoglobulin and methylprednisolone pulse therapy followed by high-dose oral steroids and mycophenolate therapy. He developed steroid-induced diabetes requiring insulin. After intensive rehabilitation and optimisation of blood pressure with alpha-blockade, he underwent a successful adrenalectomy for the phaeochromocytoma. Subsequently, immunosuppression was weaned, and the patient regained full muscle strength.

Learning points: Immune-mediated necrotising myopathy (IMNM) should be considered in patients with a history of statin use presenting with muscle weakness and elevated creatine kinase that fails to improve after statin cessation. Early diagnosis and immunosuppressive therapy are crucial in preventing permanent muscle damage. When IMNM is suspected clinically, work-up should include prompt testing for anti-HMGCR antibodies in serum. Rare conditions can co-exist, and multidisciplinary care in managing complex cases improves patient outcome.