Endocrinology, Diabetes and Metabolism Case Reports最新文献

Summary: This case highlights a potentially underrecognised complication - acute rectal calcinosis with ulceration in the context of parathyroidectomy due to primary hyperparathyroidism (PHPT), which is a common endocrine disorder characterised by excessive secretion of parathyroid hormone (PTH), most often due to a solitary adenoma of the parathyroid gland. While severe hypercalcaemia is a known complication, its association with visceral metastatic calcifications, particularly in the rectum, is extremely rare and has not previously been reported. We describe a case of a 73-year-old female who presented with progressive symptoms of hypercalcaemia, including significant weight loss, gastrointestinal involvement, and lethargy. After repeated emergency department attendances, a hypercalcaemic crisis was confirmed. Despite initial rehydration and supportive therapy, her condition deteriorated, requiring hemofiltration. Further evaluation confirmed PHPT, revealing markedly elevated intact parathormone (iPTH) and a 5 cm parathyroid adenoma, which was removed surgically. The day following parathyroidectomy, the patient developed acute rectal bleeding with a significant haemoglobin drop. Computed tomography imaging showed rectal wall thickening and hyperdensity, while colonoscopy revealed deep rectal ulcerations with visible calcifications and inflammation. Conservative treatment, including blood component transfusions, electrolyte management, and local haemostasis, led to gradual clinical improvement.

Learning points: Severe hypercalcaemia can lead to visceral calcifications, ischaemic changes, and gastrointestinal complications, even if not initially evident. In patients with primary hyperparathyroidism, acute rectal bleeding following parathyroidectomy may indicate a rare cause such as rectal calcinosis and should be considered in the differential diagnosis. Calcinosis should be particularly suspected in cases with a severe clinical picture of hyperparathyroidism-related hypercalcaemia (e.g. severe weight loss, lack of calcium correction after standard therapy). Early diagnosis and conservative management can result in favourable outcomes without the need for invasive treatment.

Summary: Insulin-like growth factor II (IGF-II)-secreting tumours represent a subset of non-islet cell tumours and are a rare but potentially life-threatening cause of paraneoplastic hypoglycaemia. They are predominantly associated with epithelial or mesenchymal tumours but have also been reported in some hepatocellular carcinomas or retroperitoneal sarcomas. Definitive treatment involves surgical resection of the mass; however, if that is not possible, then various forms of medical management can be trialled. This paper presents the case of a 91-year-old woman admitted to hospital with worsening pelvic pain. Throughout the admission, she was found to have recurrent episodes of hypoglycaemia that, when investigated, were attributed to a bladder tumour. She was diagnosed with an IGF-II-secreting non-islet cell tumour based on imaging, biochemistry, and clinical judgement. Due to her age and limited physical reserve, she declined further investigation or surgical management, leading to trial and successful medical management of her condition. This case highlights a rare presentation of IGF-II-mediated non-islet cell tumour hypoglycaemia arising from the bladder in an elderly patient, which has minimal representation in the literature.

Learning points: Unexplained and recurrent episodes of hypoglycaemia should raise clinical suspicion of a paraneoplastic process that requires further investigation. It is important to maintain a broad range of differentials when approaching a frail patient with recurrent hypoglycaemia. Management should be guided by discussion with a multidisciplinary team and patient preference. IGF-II-secreting tumours are widely associated with mesenchymal tumours; however, this case presents a rare possible association with bladder tumours. Surgical resection of NICTH tumours is the mainstay of treatment, but when it is not feasible, other medical management should be explored.

Summary: Semaglutide, a GLP-1 receptor agonist (RA), is approved for the treatment of type 2 diabetes and obesity. However, its increasing off-label use, particularly for cosmetic weight loss, raises concerns considering its potential adverse effects. We report the case of a 37-year-old woman with normal body mass index who developed subocclusive ileus following unsupervised use of semaglutide.

Learning points: Our case highlights that semaglutide can lead to functional intestinal obstruction. Clinicians should maintain a high index of suspicion for GLP-1 RA related gastrointestinal complications.

Summary: Giant cystic prolactinomas are extremely rare, with only four cases previously reported in the literature. Herein, we report the case of a 59-year-old male who presented with an acute decline in visual acuity. An urgent brain MRI revealed a large intra- and suprasellar tumor, consisting of a solid (48 × 31 × 23 mm) and a cystic suprasellar (39.9 × 38.7 × 26.3 mm) component, with cavernous sinus invasion and optic chiasm compression. Hormonal workup revealed hyperprolactinemia (1,020 ng/mL) and panhypopituitarism. The patient was initially treated with bromocriptine. After 3 months, his serum prolactin levels increased despite adequate dosing, and no improvement was observed in his visual deficits. Consequently, he underwent transcranial surgery with subtotal tumor resection. Histopathological examination confirmed PRL-secreting pituitary adenoma. Postoperatively, despite sequential treatment with bromocriptine and cabergoline (maximum approved dose of 3 mg/week), prolactin levels failed to normalize. Furthermore, follow-up MRI revealed a persistent 29 × 21 × 33 mm intra- and suprasellar tumor. This report presents a case of a dopamine agonist (DA)-resistant giant cystic prolactinoma, highlighting the therapeutic challenges associated with this rare tumor subtype.

Learning points: Giant cystic prolactinomas are extremely rare. Dopamine agonists remain the first-line therapy for both giant and cystic prolactinomas. Early surgical intervention is indicated for vision-threatening conditions or in cases of dopamine agonist resistance.

Summary: Webb-Dattani syndrome (WEDAS) is an extremely rare autosomal recessive disorder caused by pathogenic variants in the ARNT2 gene. It is characterized by a triad of congenital hypopituitarism, structural brain abnormalities, and multisystem developmental defects. We report the case of a 17-year-old girl with WEDAS who presented with global developmental delay, panhypopituitarism, and arginine vasopressin (AVP) deficiency, formerly known as central diabetes insipidus with adipsia, visual impairment, renal anomalies, and spastic quadriplegia. Her endocrine profile revealed deficiencies in ACTH, TSH, and ADH, and gonadotropins, with a possible growth hormone deficiency. Management included hormone replacement with hydrocortisone, levothyroxine, and desmopressin, as well as fluid regulation and supportive care. Despite multiple hospitalizations due to complications including hypernatremia and infections, the patient survived into adolescence - the longest reported survival in this condition to date - before passing away at age 17. This case expands the known clinical phenotype of WEDAS, emphasizing the importance of early recognition, genetic testing, and a multidisciplinary approach to care for affected individuals, particularly in consanguineous populations where the syndrome may be underdiagnosed.

Learning points: Webb-Dattani syndrome (WEDAS) is a rare autosomal recessive disorder caused by an ARNT2 pathogenic variant, presenting with a triad of congenital hypopituitarism, structural brain anomalies, and developmental delay. Adipsic diabetes insipidus is a hallmark complication in WEDAS and requires vigilant fluid management due to the absence of thirst sensation and persistent hypernatremia. Multisystem involvement - including renal anomalies and neurogenic bladder - may occur, expanding the known phenotypic spectrum of ARNT2-related disorders. Early recognition and genetic testing are essential for accurate diagnosis, especially in patients from consanguineous backgrounds presenting with multiple pituitary hormone deficiencies. Long-term survival, although rare, is possible with coordinated multidisciplinary care addressing endocrine, neurological, renal, and infectious complications. This case underscores the importance of individualized endocrine replacement therapy and caregiver education in managing complex syndromic conditions such as WEDAS.

Summary: We report a 27-year-old male with a rare chromosomal anomaly involving a ring Y chromosome (RCY). Our patient presented with severe oligozoospermia in the absence of other overt phenotypic abnormalities and was ultimately found to have mosaicism involving a ring Y chromosome. This case highlights the importance of considering structural Y chromosome abnormalities in the evaluation of male infertility, even in individuals with otherwise normal pubertal development and secondary sexual characteristics.

Learning points: RCY is a rare but important genetic cause of male infertility and should be considered in the evaluation of severe oligozoospermia or azoospermia. The clinical phenotype of RCY ranges from a normal male phenotype with infertility to phenotypic females with features of Turner syndrome. This is influenced by the presence or absence of Y-linked genes and the degree of 45,X mosaicism. The presence of a 45,X cell line in individuals with RCY mosaicism has been associated with gonadal anomalies, particularly dysgenesis and cryptorchidism.

Summary: A 55-year-old woman presented with ill-defined right abdominal pain and, on evaluation, was diagnosed to have a large right adrenal mass (9.5×8.5×8.7 cm). Although normotensive, she had markedly increased plasma free normetanephrine (8,500 ng/L (normal range: 20.10-135.40)). Pre-operatively, she received alpha-adrenergic receptor blockade (prazosin) followed by beta-adrenergic receptor blockade before undergoing right laparoscopic adrenalectomy. She had an uneventful intra- and post-operative period. The microscopic section of the tumour showed a 'zellballen' pattern, with nests separated by thin fibrovascular septae, consistent with pheochromocytoma. With the increasing accessibility of imaging technologies, asymptomatic pheochromocytoma detections are increasing. The absence of hypertension or metabolic features can be found in 30% of the cases of pheochromocytoma. Small tumour size, dopamine secretion, extensive necrosis, absence of neuropeptide Y, and adrenoreceptor desensitisation are possible explanations for normotensive status. Our case underscores the importance of ruling out pheochromocytoma in all adrenal incidentalomas, even in normotensive status.

Learning points: With the increasing availability of imaging techniques, pheochromocytomas are increasingly detected as incidentalomas. Pheochromocytomas can be normotensive even with significantly higher catecholamine levels and large size. Secondary diabetes mellitus can be seen in up to 50% of cases of pheochromocytomas and paraganglioma, which generally resolves after successful biochemical remission. Adequate α-blockade is preferable to prevent intra-operative haemodynamic instabilities in normotensive pheochromocytomas.

Summary: This is a case of a patient with a 10-year history of Cushing's disease (CD) that was previously treated with transsphenoidal pituitary tumour resection. Conception occurred spontaneously, and during early pregnancy recurrent CD became apparent both clinically and biochemically. Repeat transsphenoidal surgery took place during the second trimester, and the high-risk pregnancy resulted in a live neonate. Despite evidence of hypercortisolism and recurrent CD at 6 months postpartum, the patient had a second successful, uncomplicated pregnancy, further adding to the rarity and complexity of this case. Pregnancy in CD is rare because hypercortisolism seen in CD suppresses gonadotropin release, leading to menstrual irregularities and infertility. Diagnosis of CD is particularly challenging because many clinical and biochemical features of normal pregnancy overlap considerably with those seen in CD. Diagnosis and treatment are extremely important to reduce rates of perinatal morbidity and mortality.

Learning points: Hypercortisolism suppresses gonadotropin release, leading to menstrual irregularities and infertility. In CD, hypersecretion of both androgens and cortisol further contributes to higher rates of amenorrhoea and infertility. Pregnancy itself is a state of hypercortisolism, with very few studies detailing normal ranges of cortisol in each trimester of pregnancy for midnight salivary cortisol and urinary free cortisol testing. Treatment of CD reduces maternal morbidity and rates of foetal loss, and can be either surgical (preferred) or medical. CD can relapse, often many years after initial surgery. There are a limited number of cases of Cushing's syndrome in pregnancy, therefore, the best possible treatment is difficult to determine and should be individualised to the patient.

Summary: Hypothyroidism, affecting approximately 5% of the population, often remains undiagnosed, more so in developing countries. We report a 12-year-old girl with longstanding, untreated hypothyroidism who initially presented with proteinuria. History revealed recurrent vomiting, poor appetite, lethargy, and neurodevelopmental delays. Examination showed short stature, ptosis, outer eyebrow hair loss, myxedematous facies, dry skin, and hypertrophied calves. Investigations confirmed severe primary hypothyroidism, Hashimoto's thyroiditis, which most commonly presents between the ages of 45 and 55 years, with elevated thyroid autoantibodies and an atrophic thyroid gland. Additional findings were dyslipidemia and moderate proteinuria, both of which resolved with levothyroxine, which also improved growth. However, weight fluctuations persisted due to treatment non-adherence from financial challenges. This case illustrates a broad and atypical spectrum of complications arising from longstanding, untreated primary hypothyroidism. Awareness of such varied clinical manifestations is essential for timely diagnosis and appropriate management.

Learning points: Undiagnosed cases of hypothyroidism are more prevalent in poor-resource setups. Longstanding hypothyroidism can lead to varied presentations involving different organs, including the kidneys and gastrointestinal system, besides its profound negative effect on growth and brain development. Dyslipidemia and ptosis have been reported as well. Calf muscle hypertrophy, Kocher-Debré-Semelaigne syndrome, has been reported in longstanding hypothyroidism.

Summary: Several reports focus on azole-induced primary adrenal insufficiency (PAI); however, none have specifically focused on the absence of hypotension and hyperkalemia among the clinical features of adrenal insufficiency (AI). Here, we report a case of posaconazole-induced PAI with normal blood pressure. A 74-year-old male patient was diagnosed with lymphoma in July 2019 and underwent chemotherapy. He gradually began to experience anorexia, fatigue, and a fever of 37°C-38°C from mid-March 2022. He was diagnosed with pneumonia on April 4, 2022, and antibiotics and posaconazole at 300 mg daily were initiated post-hospitalization. Symptoms of anorexia, nausea, fatigue, and fever demonstrated no improvement despite the regression of the consolidation on the chest computed tomography. The early morning cortisol level was 2.4 μg/dL despite a high adrenocorticotropic hormone (ACTH) level (101.7 pg/mL). Therefore, we diagnosed the patient with PAI according to the low cortisol level (maximum of 8.6 μg/dL at 60 min) in a rapid ACTH stimulation test. Despite having PAI, the patient exhibited normal blood pressure and hypokalemia. Posaconazole was considered to cause PAI; therefore, it was discontinued, and hydrocortisone replacement was initiated. His symptoms improved, and rapid ACTH stimulation test reassessment 1 month after posaconazole discontinuation revealed normal basal ACTH, cortisol, and ACTH response. However, the renin-angiotensin-aldosterone system did not fully improve, as opposed to the hypothalamic-pituitary-adrenal axis. Posaconazole inhibits 11β-hydroxylase and 11β-hydroxysteroid dehydrogenase type 2, causing pseudohyperaldosteronism, which persists. Notably, posaconazole causes PAI without hypotension and hyperkalemia, which are its major clinical characteristics.

Learning points: Posaconazole causes PAI within 1 month of initial administration. Posaconazole-induced PAI may not present with hypotension or hyperkalemia. The hypothalamic-pituitary-adrenal axis improves, but the renin-angiotensin-aldosterone system may take longer to recover, as changes persist even 1 month after posaconazole discontinuation. Hypokalemia treatment should continue carefully until pseudohyperaldosteronism resolution.