Patient Demographics
You are looking at 151 - 160 of 919 items
Search for other papers by Jananie Suntharesan in
Google Scholar
PubMed
Search for other papers by Louise Apperley in
Google Scholar
PubMed
Search for other papers by Senthil Senniappan in
Google Scholar
PubMed
Summary
A male phenotype accompanied by a 45,X karyotype is rare. It may occur due to Y chromosomal translocation or insertion to X/autosome. Clinical presentation may vary depending on the presence of the Y chromosomal locus and the degree of loss of autosome material. 45,X males can present with short stature and Turner syndrome phenotype due to haploinsufficiency of genes which are normally expressed in both X and Y chromosomes. The presence of the sex-determining region Y (SRY) gene leads to the differentiation of bipotential gonads to testis. Most individuals go through puberty normally, but some may need pubertal induction for delayed puberty. Rarely some can have a pubertal arrest. The risk of gonadoblastoma is minimal in these individuals due to functioning testicular tissue. The azoospermia factor (AZF) region is found on the long arm of the Yq chromosome and is needed for spermatogenesis. In a 45,X male with unbalanced translocation of Y chromosome, spermatogenesis can be affected due to the lack of AZF leading to Sertoli cell-only syndrome. This will have an implication on fertility in adult life. We present a 14-year-old boy with developmental delay, learning difficulties and subtle dysmorphic features who was diagnosed with 45,X,der(2)t(Y:2)(?:p25). Fluorescence in situ hybridisation analysis revealed translocation of SRY (Yp11.3) to the terminal part of the short arm of chromosome 2 resulting in the deletion of most of the Y chromosome (Yp11.2-q12) and part of chromosome 2(2p25.3). This is the first case where SRY translocation to chromosome 2 presents with the above clinical presentation.
Learning points
-
45,X karyotype is rare in male.
-
It may occur due to SRY translocation or an insertion to X/autosome.
-
SRY gene translocation to chromosome 2 has been not reported in the literature.
-
Clinical presentation can be varied due to degree of loss of chromosomal material.
-
Due to loss of AZF region found on the long arm of the Yq, spermatogenesis can be affected. Loss of 2p25 leads to learning difficulty and obesity.
Search for other papers by Cun An Phang in
Google Scholar
PubMed
Search for other papers by Shejil Kumar in
Google Scholar
PubMed
Search for other papers by Peter Rohl in
Google Scholar
PubMed
Summary
The rapid rise in the use of immune checkpoint inhibitors as systemic cancer therapy has seen the emergence of immunotherapy-induced diabetes, a severe irreversible immunotherapy-related adverse event. Affected patients typically present with diabetic ketoacidosis (DKA) and low C-peptide consistent with insulin deficiency secondary to autoimmune β-cell destruction. We present the unusual case of a 61-year-old female with metastatic ampullary duodenal adenocarcinoma with primary tumour adjacent to the pancreatic head. She was commenced on immunotherapy after conventional systemic chemotherapy. Acute-onset hyperglycaemia was detected after 7 weeks on weekly blood glucose monitoring, with no glucocorticoid use or prior history of diabetes. On presentation, there was no evidence of DKA, and her glycated haemoglobin level was within the normal non-diabetic range at 5.3%, reflecting the acuity of her presentation. Initial serum C-peptide was preserved; however, it became undetectable a few weeks later, confirming insulin deficiency. We describe a case of atypical presentation of immunotherapy-induced diabetes, review the existing literature on this emerging clinical entity and discuss the differential diagnosis for new-onset diabetes mellitus in patients with metastatic cancer.
Learning points
-
Regular proactive glycaemic monitoring in patients receiving immunotherapy, particularly antibodies against programmed death ligand 1 and PD1, can facilitate very early detection of immunotherapy-induced diabetes, prompting insulin commencement and avoiding life-threatening presentations of diabetic ketoacidosis.
-
Glycated haemoglobin can be within the normal range in patients diagnosed acutely with immunotherapy-induced diabetes.
-
Serum C-peptide can be preserved initially in patients diagnosed with immunotherapy-induced diabetes but is likely to become undetectable during their illness.
-
New-onset diabetes in patients with metastatic cancer carries a broad differential diagnosis.
Search for other papers by Sophie Demartin in
Google Scholar
PubMed
Search for other papers by Pierre Goffette in
Google Scholar
PubMed
Search for other papers by Emanuel Christ in
Google Scholar
PubMed
Search for other papers by Martin T Freitag in
Google Scholar
PubMed
Search for other papers by Dominique Maiter in
Google Scholar
PubMed
Search for other papers by Raluca Maria Furnica in
Google Scholar
PubMed
Summary
A 52-year-old female presented with recurrent episodes of fasting or post-absorptive hypoglycemia. A 72-h fasting test confirmed endogenous hyperinsulinemia. Conventional imaging was unremarkable. Selective pancreatic arterial calcium stimulation and hepatic venous sampling showed a maximum calcium-stimulated insulin concentration from several pancreatic areas, mainly the proximal splenic artery and the proximal gastroduodenal artery, suggesting the presence of one or more occult insulinoma(s) in the region of the pancreatic body. 68Ga-DOTA-exendin-4 PET/CT showed however generalized increased uptake in the pancreas and a diagnosis of nesidioblastosis was therefore suspected. The patient has been since successfully treated with dietetic measures and diazoxide. Treatment efficacy was confirmed by a flash glucose monitoring system with a follow-up of 7 months.
Learning points
-
Adult nesidioblastosis is a rare cause of endogenous hyperinsulinemic hypoglycemia.
-
The distinction between insulinoma and nesidioblastosis is essential since the therapeutic strategies are different.
-
68Ga-DOTA-exendin-4 PET/CT emerges as a new noninvasive diagnostic tool for the localization of an endogenous source of hyperinsulinemic hypoglycemia.
-
Medical management with dietetic measures and diazoxide need to be considered as a valuable option to treat patients with adult nesidioblastosis.
-
Flash glucose monitoring system is helpful for the evaluation of treatment efficacy.
Search for other papers by Katarzyna Guziejko in
Google Scholar
PubMed
Search for other papers by Łukasz Minarowski in
Google Scholar
PubMed
Search for other papers by Agata Piłaszewicz-Puza in
Google Scholar
PubMed
Search for other papers by Anna Szumera-Ciećkiewicz in
Google Scholar
PubMed
Search for other papers by Robert Marek Mróz in
Google Scholar
PubMed
Summary
Sarcoidosis is an inflammatory, multisystem disease with an undetermined etiology. The presence of noncaseating granulomas in involved organs is a characteristic pathomorphological feature. Sarcoidosis, like a chameleon, can mimic different medical conditions. Although the lungs are most commonly involved, extrapulmonary manifestations can influence any system. The clinical course of the disease may differ. Immediate initiation of glucocorticosteroid therapy is important when critical organs are impaired. A case of a patient with sarcoidosis whose first clinical symptoms were related to diabetes insipidus (DI) was presented. The diagnosis of multiple organ sarcoidosis was delayed because of an adequate response to treatment with vasopressin. The multidisciplinary diagnostic approach validated the involvement of the pituitary gland, lungs, lymph nodes, bones, and subcutaneous tissue. The presented case emphasizes the critical importance of the multifaceted differential diagnosis of patients with DI.
Learning points
-
Sarcoidosis usually affects the lung but can also be a multisystemic disease.
-
The assessment of the extension of sarcoidosis remains complex.
-
A multidisciplinary approach must identify all-organ involvement and initiate appropriate sarcoidosis treatment.
-
Diabetes insipidus (DI) can be the first symptom of a systemic granulomatous disorder.
-
In the differential diagnosis of DI, a comprehensive assessment of rare causes of endocrine disorders, including extrapulmonary sarcoidosis, should be considered.
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia
King Abdullah International Medical Research Center, Jeddah, Saudi Arabia
Department of Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Jeddah, Saudi Arabia
Search for other papers by Raad Alwithenani in
Google Scholar
PubMed
Search for other papers by Danielle M Andrade in
Google Scholar
PubMed
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada
Search for other papers by Lingxin Zhang in
Google Scholar
PubMed
Search for other papers by Karen E Gomez-Hernandez in
Google Scholar
PubMed
Summary
Myopathy caused by thyrotoxicosis is not uncommon. Skeletal muscles are commonly involved, but dysphagia is a rare manifestation of thyrotoxicosis. We aim to raise awareness of dysphagia caused by hyperthyroidism and review similar cases in the literature. We present a case of severe dysphagia caused by hyperthyroidism. We also summarize similar case reports in the literature. Our patient is a 77-year-old man who presented with thyrotoxicosis related to Graves’ disease (GD), dysphagia to both liquid and solid food, and weight loss. Further investigations revealed severe esophageal dysphagia and a high risk for aspiration. He required the placement of a G-tube for feeding. After 8 weeks of methimazole treatment, his thyroid function normalized and his dysphagia improved significantly, leading to the removal of the feeding G-tube. We summarize 19 case reports published in the literature of hyperthyroidism leading to dysphagia. Patients with thyrotoxicosis and dysphagia are at higher risk for aspiration pneumonia and thyroid storm. Based on previous case reports, on average, approximately 3 weeks of treatment with anti-thyroidal drugs and beta-blockers is needed before patients can eat normally. We report a case of dysphagia associated with GD, which is rare and needs prompt recognition to restore euthyroid status. Dysphagia generally resolved with normalization of thyroid function.
Learning points
-
Myopathy caused by thyrotoxicosis is not uncommon.
-
Skeletal muscles are commonly involved, but dysphagia is a rare manifestation of thyrotoxicosis.
-
Dysphagia due to hyperthyroidism resolves with normalization of thyroid function.
-
Early recognition of dysphagia related to hyperthyroidism and early initiation of therapy may help reverse the dysphagia and prevent complications.
Search for other papers by Simone Antonini in
Google Scholar
PubMed
Search for other papers by Alessandro Brunetti in
Google Scholar
PubMed
Search for other papers by Benedetta Zampetti in
Google Scholar
PubMed
Search for other papers by Davide Boeris in
Google Scholar
PubMed
Search for other papers by Andrea Saladino in
Google Scholar
PubMed
Search for other papers by Renato Cesare Cozzi in
Google Scholar
PubMed
Summary
Osilodrostat is a novel, orally administered cortisol synthesis inhibitor, approved in 2020 by the European Medicines Agency (EMA) for the treatment of Cushing’s syndrome in adults. A significant amount of the studies currently available in the literature focus on treatment in patients with Cushing’s disease. However, data collected from patients treated with osilodrostat in real-life settings still represents a small entity. For this reason, in this article, we will discuss two real-life cases of patients with Cushing’s disease treated with this drug. The first report is about a 35-year-old woman with an adrenocorticotrophic hormone (ACTH)-secreting adenoma. After non-curative trans-nasal-sphenoidal (TNS) surgery, due to a small remnant of the adenoma, medical therapy with osilodrostat achieved fast and effective biochemical and clinical response. During treatment, progressive increase of ACTH levels and an enlargement of the pituitary remnant were documented, with planned radiosurgical treatment. The second case reports a 32-year-old man diagnosed with Cushing’s disease in 2020, who, after surgery refusal, started osilodrostat at progressively up-titrated doses, according to 24 h urinary free cortisol levels, up to 5 mg twice a day. With osilodrostat, the patient reached biochemical and clinical control of disease until TNS surgery in October 2021, with complete remission. The first post-surgical biochemical assessment was equivocal in spite of a transient clinical hypoadrenalism, reverted after 2 months with the restoration of physiological hypothalamic-pituitary-adrenal axis (HPA) function.
Learning points
-
Osilodrostat is a potent oral drug viable for Cushing’s disease as medical therapy when surgery is not feasible or remission cannot be reached.
-
Osilodrostat proves to be a safe drug and its main adverse effect is hypoadrenalism, due to the adrenolytic action of the compound.
-
Osilodrostat needs a very tailored approach in its clinical use because there is no correlation between the level of hypercortisolism pre-treatment and the dose required to reach disease control.
Search for other papers by David Lin in
Google Scholar
PubMed
Search for other papers by Jai Madhok in
Google Scholar
PubMed
Search for other papers by Jason Bouhenguel in
Google Scholar
PubMed
Search for other papers by Frederick Mihm in
Google Scholar
PubMed
Summary
We describe a case of a 47-year-old patient who presented with severe lactic acidosis, troponinemia, and acute kidney injury after receiving 8 mg of intramuscular dexamethasone for seasonal allergies in the setting of an undiagnosed epinephrine-secreting pheochromocytoma. This case was atypical, however, in that the patient exhibited only mildly elevated noninvasive measured blood pressures. Following a period of alpha-adrenergic blockade, the tumor was resected successfully. Steroid administration can precipitate pheochromocytoma crisis that may present unusually as in our patient with mild hypertension but profound lactic acidosis.
Learning points
-
Steroids administered via any route can precipitate pheochromocytoma crisis, manifested by excessive catecholamine secretion and associated sequelae from vasoconstriction.
-
Lack of moderate/severe hypertension on presentation detracts from consideration of pheochromocytoma as a diagnosis.
-
Lactatemia after steroid administration should prompt work-up for pheochromocytoma, as it can be seen in epinephrine-secreting tumors.
-
Noninvasive blood pressure measurements may be unreliable during pheochromocytoma crisis due to excessive peripheral vasoconstriction.
Search for other papers by Cody Harper in
Google Scholar
PubMed
Search for other papers by James Michael in
Google Scholar
PubMed
Search for other papers by Tarek Rahmeh in
Google Scholar
PubMed
Search for other papers by Vicki Munro in
Google Scholar
PubMed
Summary
The most common sites of distant metastases of papillary thyroid carcinoma (PTC) are lung and bone. Widespread distant metastases of PTC are rare and associated with poor overall prognosis. Metastases to sites such as liver and pancreas are extremely rare, and literature is sparse on overall survival. In this report, we present a 57-year-old man whose initial presentation of PTC was with pancreatic, liver, and lung metastases, and subsequently developed metastases to bone and brain. He underwent a total thyroidectomy, neck dissection, and tracheal resection. Pathology revealed a predominant columnar cell variant PTC with focal areas of tall cell variant, and genomic sequencing showed both PIK3CA and BRAF gene mutations. Radioactive iodine ablation with I-131 did not show any uptake in metastatic sites and he had progression of the metastases within 6 months. Therefore, therapy with lenvatinib was initiated for radioactive iodine refractory disease. Our patient has tolerated the lenvatinib well, and all his sites of metastases decreased in size. His liver and pancreatic lesions took longer to respond but showed response 6 months after initiation of lenvatinib, and he remains on full dose lenvatinib 18 months into treatment.
Learning points
-
Papillary thyroid carcinoma (PTC) usually metastasizes to lung and bone but can rarely occur in many other sites.
-
Patients with distant metastases have significantly worse long-term prognosis.
-
Lenvatinib can be an effective treatment of radioactive iodine refractory PTC with rare sites of distant metastases.
-
Lenvatinib can be an effective treatment of PTC with BRAF V600E and PIK3CA mutation.
Search for other papers by Mike Lin in
Google Scholar
PubMed
The University of Sydney Concord Clinical School, Concord NSW, Australia.
Search for other papers by Kirtan Ganda in
Google Scholar
PubMed
Summary
We present the case of a 60-year-old female who developed repeated atraumatic stress fractures. She was initially diagnosed with osteoporosis based on her dual-energy X-ray absorptiometry (DXA) scan bone mineral density (BMD) T-scores and started on denosumab therapy. Secondary osteoporosis screen revealed abnormal myeloma screen and low serum phosphate levels. It was thought that the patient had multiple myeloma with associated Fanconi-related tubular dysfunction. However, fibroblast growth factor-23 (FGF-23) levels were grossly elevated, making Fanconi syndrome unlikely. The patient was subsequently diagnosed with two separate conditions, namely cardiac amyloid light-chain (AL) amyloidosis and FGF-23-related hypophosphataemia, likely due to tumour-induced osteomalacia. This case highlights the importance of excluding osteomalacia as a cause of low BMD and checking FGF-23 levels in the workup for hypophosphataemia.
Learning Points
-
Tumour-induced osteomalacia is a difficult diagnosis as the tumour is often small and slow growing. Imaging may fail to identify a tumour, and treatment therefore consists of calcitriol and phosphate replacement.
-
Tumour-induced osteomalacia should be suspected in the adult presenting with new-onset hypophosphataemia, elevated FGF-23 levels and isolated renal phosphate wasting.
-
Serum phosphate is not part of the routine chemistry panels. Routinely checking phosphate levels prior to initiating antiresorptive therapy is warranted.
-
DXA cannot distinguish low bone mineral density due to osteoporosis from osteomalacia. Antiresorptive therapy should be avoided in osteomalacia due to the risk of clinical and radiographic deterioration.
Search for other papers by Omayma Elshafie in
Google Scholar
PubMed
Search for other papers by Samir Hussein in
Google Scholar
PubMed
Search for other papers by Moza Al Kalbani in
Google Scholar
PubMed
Search for other papers by Aisha Al Hamadani in
Google Scholar
PubMed
Search for other papers by Abir Bou Khalil in
Google Scholar
PubMed
Search for other papers by Nicholas Woodhouse in
Google Scholar
PubMed
Summary
A 33-year-old female presented in 2013 with left flank pain. Ultrasound and MRI pelvis showed a complex mass 9 × 7 cm arising from the left ovary suggestive of ovarian torsion. She underwent a laparoscopic cystectomy, but the patient was lost to follow-up. Three years later, she presented with abdominal distension. Ultrasound and CT scan revealed a solid left ovarian mass with ascites and multiple peritoneal metastasis. Investigations showed elevated CA 125, CA 19-9. Ovarian malignancy was suspected. She underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy on November 2016. The histopathology confirmed a well-differentiated thyroid cancer of ovarian origin with features of a papillary follicular variant without evidence of ovarian cancer and the thyroglobulin (Tg) level was elevated, more than 400 consistent with the diagnosis of malignant struma ovarii. The follow-up post-surgery showed normalization of CA 125, CA 19-9 and Tg. The patient underwent total thyroidectomy on January 2017. The histology was benign excluding thyroid cancer metastases to the ovary. She was started on thyroxine suppression, following which she received two ablation doses 131iodine (131I) each 5.3 GBq. The Tg remains slightly elevated at less than 10. 131I WBS showed no residual neck uptake and no distant avid metastasis. She was planned for molecular analysis which may indicate disease severity. We describe a case of malignant struma ovarii with widespread metastatic dissemination and a good response to surgery and 131I treatment without recurrence after 5 years of follow-up. The Tg remains slightly elevated indicating minimal stable residual disease.
Learning points
-
Malignant struma ovarii is a rare disease; diagnosis is difficult and management is not well defined.
-
Presentation may mimic advanced carcinoma of the ovary.
-
Predominant sites of metastasis are adjacent pelvic structures.
-
Thyroidectomy and 131iodine therapy should be considered. The management should be similar to that of metastatic thyroid cancer.
