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Summary Background COVID-19 can lead to multiorgan failure. Dapagliflozin, a SGLT2 inhibitor, has significant protective benefits for the heart and kidney. We aimed to see whether this agent might provide organ protection in patients with COVID-19 by affecting processes dysregulated during acute illness. Methods DARE-19 was a randomised, double-blind, placebo-controlled trial of patients hospitalised with COVID-19 and with at least one cardiometabolic risk factor (ie, hypertension, type 2 diabetes, atherosclerotic cardiovascular disease, heart failure, and chronic kidney disease). Patients critically ill at screening were excluded. Patients were randomly assigned 1:1 to dapagliflozin (10 mg daily orally) or matched placebo for 30 days. Dual primary outcomes were assessed in the intention-to-treat population: the outcome of prevention (time to new or worsened organ dysfunction or death), and the hierarchial composite outcome of recovery (change in clinical status by day 30). Safety outcomes, in patients who received at least one study medication dose, included serious adverse events, adverse events leading to discontinuation, and adverse events of interest. This study is registered with ClinicalTrials.gov , NCT04350593 . Findings Between April 22, 2020 and Jan 1, 2021, 1250 patients were randomly assigned with 625 in each group. The primary composite outcome of prevention showed organ dysfunction or death occurred in 70 patients (11·2%) in the dapagliflozin group, and 86 (13·8%) in the placebo group (hazard ratio [HR] 0·80, 95% CI 0·58–1·10; p=0·17). For the primary outcome of recovery, 547 patients (87·5%) in the dapagliflozin group and 532 (85·1%) in the placebo group showed clinical status improvement, although this was not statistically significant (win ratio 1·09, 95% CI 0·97–1·22; p=0·14). There were 41 deaths (6·6%) in the dapagliflozin group, and 54 (8·6%) in the placebo group (HR 0·77, 95% CI 0·52–1·16). Serious adverse events were reported in 65 (10·6%) of 613 patients treated with dapagliflozin and in 82 (13·3%) of 616 patients given the placebo. Interpretation In patients with cardiometabolic risk factors who were hospitalised with COVID-19, treatment with dapagliflozin did not result in a statistically significant risk reduction in organ dysfunction or death, or improvement in clinical recovery, but was well tolerated. Funding AstraZeneca.

Contains fulltext : 245825.pdf (Publisher’s version ) (Closed access) BACKGROUND: Phaeochromocytoma or paraganglioma (collectively known as PPGL) in pregnant women can lead to severe complications and death due to associated catecholamine excess. We aimed to identify factors associated with maternal and fetal outcomes in women with PPGL during pregnancy. METHODS: We did a multicentre, retrospective study of patients with PPGL and pregnancy between Jan 1, 1980, and Dec 31, 2019, in the International Pheochromocytoma and Pregnancy Registry and a systematic review of studies published between Jan 1, 2005, and Dec 27, 2019 reporting on at least five cases. The inclusion criteria were pregnancy after 1980 and PPGL before or during pregnancy or within 12 months post partum. Eligible patients from the retrospective study and systematic review were included in the analysis. Outcomes of interest were maternal or fetal death and maternal severe cardiovascular complications of catecholamine excess. Potential variables associated with these outcomes were evaluated by logistic regression. FINDINGS: The systematic review identified seven studies (reporting on 63 pregnancies in 55 patients) that met the eligibility criteria and were of adequate quality. A further 197 pregnancies in 186 patients were identified in the International Pheochromocytoma and Pregnancy Registry. After excluding 11 pregnancies due to potential overlap, the final cohort included 249 pregnancies in 232 patients with PPGL. The diagnosis of PPGL was made before pregnancy in 37 (15%) pregnancies, during pregnancy in 134 (54%), and after delivery in 78 (31%). Of 144 patients evaluated for genetic predisposition for phaeochromocytoma, 95 (66%) were positive. Unrecognised PPGL during pregnancy (odds ratio 27·0; 95% CI 3·5-3473·1), abdominal or pelvic tumour location (11·3; 1·5-1440·5), and catecholamine excess at least ten-times the upper limit of the normal range (4·7; 1·8-13·8) were associated with adverse outcomes. For patients diagnosed during pregnancy, α-adrenergic blockade therapy was associated with fewer adverse outcomes (3·6; 1·1-13·2 for no α-adrenergic blockade vs α-adrenergic blockade), whereas surgery during pregnancy was not associated with better outcomes (0·9; 0·3-3·9 for no surgery vs surgery). INTERPRETATION: Unrecognised and untreated PPGL was associated with a substantially higher risk of either maternal or fetal complications. Appropriate case detection and counselling for premenopausal women at risk for PPGL could prevent adverse pregnancy-related outcomes. FUNDING: US National Institutes of Health.

Patients with the recovery of kidney function after an episode of acute kidney injury (AKI) have better outcomes compared to those without recovery. The current systematic review is conducted to assess the rates of kidney function recovery among patients with AKI or severe AKI requiring kidney replacement therapy (KRT) within 100 days after hematopoietic stem cell transplant (HSCT). Methods The Ovid MEDLINE, EMBASE, and Cochrane databases were systemically searched from database inceptions through August 2019 to identify studies reporting the rates of recovery from AKI after HSCT. The random-effects and generic inverse variance methods of DerSimonian-Laird were used to combine the effect estimates obtained from individual studies. Results A total of 458 patients from eight cohort studies with AKI after HSCT were identified. Overall, the pooled estimated rates of AKI recovery among patients with AKI and severe AKI requiring KRT within 100 days were 58% (95%CI: 37%-78%) and 10% (95%CI: 2%-4%), respectively. Among patients with AKI recovery, the pooled estimated rates of complete and partial AKI recovery were 60% (95%CI: 39%-78%) and 29% (95%CI: 10%-61%), respectively. There was no clear correlation between study year and the rate of AKI recovery (p=0.26). Conclusion The rate of recovery from AKI after HSCT depends on the severity of AKI. While recovery is common, complete recovery is reported in about two-thirds of all AKI patients. The rate of recovery among those with AKI requiring renal replacement therapy (RRT) is substantially lower.

A 45-year-old man was referred to endocrine for the evaluation of hypercalcaemia. The calcium was elevated, vitamin D was low with a normal parathyroid hormone. Dual-energy X-ray absorptiometry scan revealed osteoporosis at the lumbar spine and femoral neck. A 24-hour urine collection revealed low urinary calcium, which was believed to be secondary to vitamin D deficiency. A diagnosis of primary hyperparathyroidism was made. The patient underwent a four-gland parathyroid exploration surgery in which three of his parathyroid glands were removed. The pathology was consistent with benign parathyroid tissue. Post surgery, the patient had persistently elevated calcium levels. He was then started on bisphosphonate and cinacalcet for osteoporosis and hypercalcaemia, respectively. Genetic analysis of familial hypocalciuric hypercalcaemia (FHH) showed a p.arg15cys mutation in the AP2S1 gene, confirming the diagnosis of FHH type 3.

Globally, diabetes mellitus is a leading cause of kidney disease, with a critical percent of patients approaching end-stage kidney disease. In the current era, sodium-glucose co-transporter 2 inhibitors (SGLT2i) have emerged as phenomenal agents in halting the progression of kidney disease. Positive effects of SGLT2i are centered on multiple mechanisms, including glycosuric effects, tubule—glomerular feedback, antioxidant, anti-fibrotic, natriuretic, and reduction in cortical hypoxia, alteration in energy metabolism. Concurrently, multiple kidney and cardiovascular outcome studies have reported remarkable advantages of SGLT2i including mortality benefits. Additionally, the superiority of combination therapies (SGLT2I along with metformin/DDP-4 Inhibitors) in treatment-naïve diabetic patients is further looked into with potential signal towards glycemic and blood pressure control. Reported promising results initiate a gateway for future research targeting kidney outcomes with combination therapies as an initial approach. In the current paper, we summarize leading cardiovascular and kidney outcome trials in patients with type 2 diabetes, the role of SGLT2i in non-diabetic proteinuric kidney disease, and the potential mechanisms of action of SGLT2i with special focus on combination therapy as an initial therapeutic approach in treatment-naïve diabetic patients.

Bone and mineral disorders are common after organ transplantation. Osteoporosis post transplantation is associated with increased morbidity and mortality. Pathogenesis of bone disorders in this particular sub set of the population is complicated by multiple co-existing factors like preexisting bone disease, Vitamin D deficiency and parathyroid dysfunction. Risk factors include post-transplant immobilization, steroid usage, diabetes mellitus, low body mass index, older age, female sex, smoking, alcohol consumption and a sedentary lifestyle. Immunosuppressive medications post-transplant have a negative impact on outcomes, and further aggravate osteoporotic risk. Management is complex and challenging due to the sub-optimal sensitivity and specificity of non-invasive diagnostic tests, and the underutilization of bone biopsy. In this review, we summarize the prevalence, pathophysiology, diagnostic tests and management of osteoporosis in solid organ and hematopoietic stem cell transplant recipients.

Introduction: Thyrotoxic periodic paralysis (TPP) is a rare and potentially lethal complication of hyperthyroidism. It is characterized by sudden onset paralysis associated with hypokalemia. Management includes prompt normalization of potassium, which results in resolution of the paralysis. Definitive treatment of hyperthyroidism resolves TPP completely. Case presentation: A 23-year-old African American male patient presented to the emergency room at the University of Mississippi Medical Center, USA in November 2016 with sudden onset quadriplegia. He also endorsed a history of weight loss, palpitations, heat intolerance and tremors. The patient reported similar episodes of quadriplegia in the past, which were associated with hypokalemia and resolved with normalization of potassium levels. Physical examination was significant for exophthalmos, smooth goiter with bruit consistent with the diagnosis of Graves’ disease. Laboratory assessment showed severe hypokalemia, hypomagnesemia, suppressed thyroid stimulating hormone (TSH) and high free thyroxine (T4). Urine potassium creatinine ratio was less than one, indicating transcellular shift as the cause of hypokalemia. After normalization of potassium and magnesium, the paralysis resolved in 12 hours. He was started on methimazole. On follow up, the patient was clinically and biochemically euthyroid with no further episodes of paralysis. Take-away lesson: TPP is a rare and reversible cause of paralysis. Physicians need to be aware of the diagnostic and treatment modalities as delayed recognition in treatment could result in potential harm or unnecessary interventions.

Patient: Male, 42 Final Diagnosis: Bullosis diabeticorum Symptoms: Skin rash Medication: — Clinical Procedure: Debridement Specialty: Metabolic Disorders and Diabetics Objective: Rare co-existance of disease or pathology Background: Bullosis diabeticorum (BD) is a condition characterized by recurrent, spontaneous, and non-inflammatory blistering in patients with poorly controlled diabetes mellitus. While etiopathogenesis remains unclear, roles of neuropathy, vasculopathy and UV light are hypothesized. Most literature reports negative direct and indirect immunofluorescence findings in diabetics with bullous eruptions. Porphyria cutanea tarda, bullous pemphigoid, epidermolysis bullosa, and pseudoporphyria are other differential diagnoses of bullous lesions, and they must be excluded. Case Report: We present a 42-year-old African American male with long standing poorly controlled insulin dependent diabetes mellitus with blisters on his left hand and feet. The blisters were noticed three weeks prior to presentation and, thereafter, rapidly increased in size and spontaneously ruptured. Physical examination revealed a multitude of both roofed and unroofed bullous painless skin lesions. Hematoxylin and eosin (H&E) staining dramatized the dermal-epidermal blistering and re-epithelization process. Direct Immunofluorescence (DIF) was positive for 2 + IgG deposition in the already thickened basement membrane of the capillaries of the superficial vascular plexus. After debridement, his wounds greatly improved with over three months of aggressive wound care. Conclusions: Primary immunologic abnormality likely plays no role in the onset of BD. To date, only one article has reported nonspecific capillary-associated immunoglobulin M and C3. This is the first case of BD with IgG deposition in the superficial capillary basement membrane. Positive findings on DIF suggest vasculopathy. Dermal microangiopathy, secondary to immunologic abnormality, is a possible underlying pathogenesis to bullae formation. Punch biopsy with DIF can be an additional diagnostic modality in the management of such cases.

BackgroundWhile acute kidney injury (AKI) is commonly reported following hematopoietic stem cell transplant (HCT), the incidence and impact of AKI on mortality among patients undergoing HCT are not well described. We conducted this systematic review to assess the incidence and impact of AKI on mortality risk among patients undergoing HCT.MethodsOvid MEDLINE, EMBASE and the Cochrane Databases were searched from database inceptions through August 2019 to identify studies assessing the incidence of AKI and mortality risk among adult patients who developed AKI following HCT. Random-effects and generic inverse variance method of DerSimonian–Laird were used to combine the effect estimates obtained from individual studies.ResultsWe included 36 cohort studies with a total of 5144 patients undergoing HCT. Overall, the pooled estimated incidence of AKI and severe AKI (AKI Stage III) were 55.1% (95% confidence interval (CI) 46.6–63.3%) and 8.3% (95% CI 6.0–11.4%), respectively. The pooled estimated incidence of AKI using contemporary AKI definitions (RIFLE, AKIN and KDIGO criteria) was 49.8% (95% CI 41.6–58.1%). There was no significant correlation between study year and the incidence of AKI (P = 0.12) or severe AKI (P = 0.97). The pooled odds ratios of 3-month mortality and 3-year mortality among patients undergoing HCT with AKI were 3.05 (95% CI 2.07–4.49) and 2.23 (95% CI 1.06–4.73), respectively.ConclusionThe incidence of AKI among patients who undergo HCT remains high, and it has not changed over the years despite advances in medicine. AKI after HCT is associated with increased short- and long-term mortality.

A 55-year-old female patient was presented with severe dyspnea due to sudden onset of heart failure (ejection fraction (EF)

Non-islet cell hypoglycemia (NICH) is hypoglycemia due to the overproduction of insulin-like growth factor-2 (IGF-2) and its precursors which can activate the insulin receptor. Typically, large mesenchymal and epithelial tumors can cause NICH. Diagnosis is confirmed by finding an elevated IGF-2/IGF-1 ratio. The mainstay of treatment is surgical excision. Glucocorticoids may be used in cases where surgery is not possible. We present two cases of NICH with different outcomes. A 33-year-old male patient admitted with altered mental. He was found walking naked outside his house. Laboratory assessment revealed severe hypoglycemia. Further evaluation showed low levels of insulin, C-peptide, and beta-hydroxybutyrate along with an elevated IGF-2/IGF-1 ratio confirming the diagnosis of NICH. Computed tomography (CT) of the abdomen showed a massive tumor of the liver consistent with hepatocellular carcinoma. Since the patient refused surgery, he was started on prednisone however the hypoglycemia persisted. A 54-year-old female patient with a history of type 2 diabetes mellitus (DM) admitted with recent onset hypoglycemia. Despite stopping her insulin, she continued to have hypoglycemia necessitating the administration of high concentrations of intravenous dextrose. Further evaluation showed low levels of insulin, C-peptide, and beta-hydroxybutyrate along with an elevated IGF-2/IGF-1 ratio consistent with the diagnosis of NICH. CT abdomen showed a 24 cm tumor near the uterus. The pathology was consistent with a gastrointestinal stromal tumor (GIST). After surgical excision of the tumor, the hypoglycemia resolved.

Introduction: Secondary osteoporosis is due to an identifiable cause of osteoporosis. Hypophosphatasia is a rare cause of secondary osteoporosis and needs to be considered when evaluating osteoporosis in young people. We present a case of secondary osteoporosis initially thought to be a result of malabsorptive disorder and chronic steroid use, with eventual diagnosis of autosomal dominant hypophosphatasia as the primary underlying cause. Clinical Case: A 24 year old male who was seen for evaluation of osteoporosis. He reported an extensive history of fractures about 26 in total, including wrist, shoulders, nose, and metatarsals. Past history was also significant for bowed legs at birth requiring osteotomies and spontaneous loss of several teeth with root intact, requiring extractions. He was also diagnosed with Crohn’s disease at 17 years old and history of steroid use, however was not on steroids at time of initial evaluation. He was diagnosed with bilateral avascular necrosis at age 18 years and needed bilateral hip replacement at age 20 years. There was no family history of skeletal disorders. DEXA scan obtained for the assessment of bone density revealed a Z score of -2.6 in the lumbar spine and -2.1 in the distal forearm. Further evaluation for secondary causes of osteoporosis revealed a normal TSH, PTH, tryptase, vitamin D and testosterone levels. Bone turnover markers were normal except for a low alkaline phosphatase. It was noted that the patient had a persistently low alkaline phosphatase for the last 6 years despite his frequent fractures. Hypophosphatasia was suspected given the history and the low alkaline phosphatase levels. Pyridoxal 5-phosphate was elevated at 77mcg/L (normal 5-50mcg/L). Genetics evaluation revealed a heterozygous, missense mutation in ALPL gene, confirming diagnosis of autosomal dominant hypophosphatasia. He was started on enzyme replacement therapy with asfotase alpha. Conclusion: Hypophosphatasia is a rare metabolic bone disease due to a deficiency of alkaline phosphatase which may present from infancy to adulthood. Diagnosis is made by finding a low alkaline phosphatase level and elevated 5 pyridoxal phosphate. Enzyme replacement therapy with asfotase alpha is the mainstay of treatment. It is probably underdiagnosed secondary to its rarity and therefore must be considered in any young patient who presents with osteoporosis. References: Mornet, E. and Nunes. M.E. Hypophosphatasia. 2007 Nov 20. In: Adam, M.P., Ardinger, H.H., Pagon, R.A., et al., editors. Gene Reviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Demay, M.B. and Krane, S.M. 2016. Disorders of Mineralization. In Jameson, J.L., DeGroot, L.J., et al., editors. Endocrinology: Adult and Pediatric. 7th Edition. Philadelphia (PA): Saunders. p 1241.

Autoimmune polyglandular Syndrome Type 1 (APS-1) is an autoimmune disease due to defects in the AIRE gene. It is characterized by a triad of hypoparathyroidism, mucocutaneous candidiasis, and Addison’s disease. We present a case of pigmented paravenous retinochoroidal atrophy associated with APS-1. Case description: A 14 year old female who was admitted for cramps in her hands secondary to hypocalcemia. Past medical history is significant for recurrent vaginal candidiasis and panic attacks. Laboratory assessment revealed low parathyroid hormone and hypocalcemia confirming the diagnosis of hypoparathyroidism. After 4 months she presented with vomiting, and dizziness. Serum cortisol levels were low consistent with the diagnosis of adrenal insufficiency. Further evaluation revealed a mutation in the APS-1 gene. At 28 years she presented with complaints of blurred vision and blind spots for a year. Initial ophthalmologic evaluation revealed a visual acuity of 20/60 in the right eye and 20/50 in the left eye. Anterior segment assessment was normal. Fundoscopy revealed presence of speculated pigment and atrophy of the macula long with attenuated retinal vessels. Optical coherence tomography did not show any macular edema. Visual field assessment was normal. She was diagnosed with pigmented paravenous chorioretinal atrophy. Anti-retinal antibodies were positive for 30-kDa, 36-kDa, 40-kDa, and 46-kDa confirming the autoimmune etiology of the disorder. Over the next 2 years, her visual acuity decreased to 20/400 in the right eye and 20/80 in the left eye. Conclusion: APS-1 is a rare disease associated with numerous autoimmune disorders, beyond the classic clinical triad. Pigmented paravenous chorioretinal atrophy is a previously unreported manifestation of APS-1. Unfortunately no definitive treatment exists for retinal degeneration.

A 61-year old female patient who was referred to the endocrine clinic for evaluation of an elevated alkaline phosphatase. She was originally referred to gastroenterology (GI), however no GI causes of elevated alkaline phosphatase was found. Upon fractionation, it was noted that she had elevation in bone specific alkaline phosphatase. Past history was significant for hypertension, atrial fibrillation and menopause 6 years ago. She was also noted to have multiple drug allergies manifesting as urticaria and flushing. Review of the past records revealed a persistently elevated alkaline phosphatase over the last two years. She had no history of falls or fractures. Computed tomography (CT) abdomen done to rule out biliary pathology, revealed osteosclerotic and osteolytic lesion in the pelvis concerning neoplastic disease. Bone marrow biopsy however, was negative for cancer but consistent with systemic mastocytosis (SM). Dual Energy X-ray absorbimetery (DEXA) scan revealed osteoporosis Serum tryptase levels were elevated; further genetic analysis showed a positive CKIT D816 mutation. She was started on bisphosphonates (initially alendronate and then ibandronate). Upon follow up at two years she had not experienced any fractures and her bone mineral density also had improved significantly.

Hospitalists and primary care physicians encounter renal disease daily. Although most cases of acute kidney injury (AKI) are secondary to dehydration and resolve by giving fluids, many cases of AKI are due to not uncommon but unfamiliar causes needing nephrology evaluation. Common indications to consult a nephrologist on an emergency basis include hyperkalemia or volume overload in end stage renal disease patients (ESRD). Other causes of immediate consultation are cresenteric glomerulonephritis / rapidly progressive glomerulonephritis in which renal prognosis of the patient depends on timely intervention. The following evidence-based key information could improve patient care and outcomes. Abbreviations: AKI: Acute kidney injury ESRD: End stage renal disease patients

A 50-year-old man with a history of prostate cancer with extensive bone metastasis and hypocalcaemia presented with muscle aches and cramps. Physical exam was significant for Chvostek’s and Trousseau’s sign. Laboratory assessment was consistent with profound hypocalcaemia. This was believed to be due to hungry bone syndrome secondary to advanced prostate cancer. He was treated with intravenous calcium, vitamin D and calcitriol. He also received three doses of radium(223) therapy. After therapy, hypocalcaemic episodes resolved. Follow-up after 2.5 years showed continued resolution of hypocalcaemia.

Aim. To present a case of Graves’ disease complicated by methimazole induced agranulocytosis treated with therapeutic plasma exchange (TPE) and review of the literature. Case Presentation. A 21-year-old patient with a history of Graves’ disease presented to the endocrine clinic. His history was significant for heat intolerance, weight loss, and tremors. Upon examination he had tachycardia, smooth goiter, thyroid bruit, and hyperactive reflexes. He was started on methimazole and metoprolol and thyroidectomy was to be done once his thyroid function tests normalized. On follow-up, the patient symptoms persisted. Complete blood count done showed a white blood cell count of 2100 (4000–11,000 cells/cu mm) with a neutrophil count of 400 cells/cu mm, consistent with neutropenia. He was admitted to the hospital and underwent 3 cycles of TPE and was also given filgrastim. He improved clinically and his thyroxine (T4) levels also came down. Thyroidectomy was done. He was discharged on levothyroxine for postsurgical hypothyroidism. Conclusion. Plasmapheresis may be useful in the treatment of hyperthyroidism. It works by removing protein bound hormones and also possibly inflammatory cytokines. Further studies are needed to clarify the role of various modalities of TPE in the treatment of hyperthyroidism.

Cushing syndrome secondary to ectopic Adrenocorticotrophic (ACTH) hormone secretion is an uncommon entity mostly caused by small cell lung cancer or bronchial carcinoids. It can be characterised by absence of classical cushingoid features. Ectopic ACTH syndrome is characterised by severe and progressive hypercortisolemia. Thus, prompt identification and treatment can significantly decrease morbidity in affected patients. A 57-year-old male patient with a history of Stage 4 squamous cell cancer of the lung presented with worsening hyperglycemia and hypokalemia. Physical exam was notable for facial plethora and hypertension. Hormonal testing showed a very high serum cortisol, ACTH and 24 hours urinary free cortisol levels. MRI of the brain was normal. A diagnosis of ectopic ACTH syndrome was confirmed. The patient was started on Ketoconazole and his cortisol levels improved. The patient was discharged and eventually was lost to follow up.

Wernicke’s encephalopathy is a neurological disorder secondary to the deficiency of vitamin B1 (thiamine). The classic symptoms consist of nystagmus, ophthalmoplegia, ataxia and mental status changes.1 Initially, this was described by Carl Wernicke in 1881 as acute haemorrhagic polioencephalitis.2 Wernicke’s encephalopathy is mostly described in association with malnutrition and alcoholism.1 However, it has been increasingly being noted in various other settings. There is also evidence that this may be an underdiagnosed condition as several cases may not manifest the classical triad of symptoms. Prompt diagnosis and treatment are essential as any delay or undertreatment can result in irreversible complications. We report a case of gestational hyperthyroidism causing Wernicke’s encephalopathy. To our knowledge, there have been only four previous cases of gestational hyperthyroidism causing Wernicke’s encephalopathy in the literature.3–7 A 34-year-old G3P2 11-week 6-day-old pregnant female patient presented to the emergency department with a history of confusion, nausea and vomiting. Prior to this, she was admitted a month ago for hyperemesis. At that point, thyroid function tests showed a suppressed thyroid-stimulating hormone (TSH) of 0.01 (0.27–4.2 ng/dL) and high free thyroxine (FT4) of 3.88 (0.9–1.7 ng/dL). Thyroid-stimulating immunoglobulin and thyroid receptor antibody were negative ruling out Graves’ disease. She was diagnosed as having gestational hyperthyroidism and treated with hydration and antiemetics, no thionamides were given; her FT4 trended downwards and she was discharged. Since discharge, she continued to have vomiting, and also developed worsening of her mental status. Although she was prescribed prenatal vitamins, she was unable to take them secondary to persistent vomiting. She had a 30 lb weight loss in the last 1 month. Vitals on admission showed tachycardia of 134 beats/min and a temperature of 98.1. On examination, she was cachectic and had difficulty answering questions. No exophthalmos or thyromegaly was noted. Heart and lung examination was normal except …

A 21-year-old male patient presented to the endocrine clinic with a history of congenital hypopituitarism. He had adrenal insufficiency, hypothyroidism and hypogonadism, which were being adequately replaced. At age 4, he was brought to the clinic with failure to thrive and small stature. He had

A 50-year-old female patient with no significant medical history presented with left knee pain. Radiographs of the knee showed a circumferential swelling of the distal femur suggestive of neoplasia. Further evaluation revealed multiple lesions in the left iliac bone and proximal femur. Biopsy was suggestive of a reparative granuloma or an aneurysmal bone cyst. Laboratory assessment showed hypercalcaemia and elevated parathyroid hormone consistent with severe primary hyperparathyroidism. Osseous survey was significant for salt and pepper appearance of the skull. Ultrasound of the neck and (99m)Tc-sestamibi parathyroid scintigraphy localised a left parathyroid adenoma/carcinoma. Parathyroidectomy was successful, and a large parathyroid adenoma was excised. Six months later, the patient was doing fine with her gait returning to normal. On follow-up 2 years later, she had no recurrence of the lesions.

A 27-year-old male patient who presented to the emergency room with complaints of sweating, palpitations, heat intolerance, insomnia and weight loss for the last 3 months. His medical history was significant for hypertension. On examination, he was tachycardic, hypertensive, had tremors of the upper extremities and a smooth goitre with a thyroid bruit. Laboratory assessment revealed a suppressed thyroid-stimulating hormone, high free thyroxine and positive thyroid receptor antibodies. Complete blood count showed pancytopenia. As part of the work-up for pancytopenia, haptoglobin, ferritin, Coombs test, reticulocyte count hepatitis B and C antibodies were done, all of which were normal. Patient was started on methimazole, propranolol and hydrocortisone. His symptoms improved through the hospital course and he was subsequently discharged. Thyroidectomy was done once the patient’s hyperthyroidism was controlled. Levothyroxine was started for the control of postsurgical hypothyroidism. Six months after thyroidectomy, the patient was euthyroid and the pancytopenia resolved.

Minor head trauma is a very rare cause of ischemic stroke in the pediatric population. We describe a nineteen month old patient who developed left hemiparesis and subsequently left facial palsy after a fall. MRI of the brain showed hypodensities in the basal ganglia, internal capsule and caudate nucleus consistent with stroke. Echocardiogram and MRA were normal. Hypercoaguable work up showed that the patient was a carrier for a single MTHFR gene. The patient was treated conservatively. On follow up two weeks later his facial palsy had resolved and strength in the extremities improved. Although a rare condition awareness about this is necessary as there can be considerable delay in its recognition.

A 31 year old woman who was 16 weeks pregnant was admitted because of headache, blurred vision, excessive weight gain, and hirsutism. Laboratory tests showed low adrenocorticotropic hormone (ACTH) and elevated serum and urinary cortisol. Magnetic resonance imaging showed a left adrenal mass. Left adrenalectomy was done, and histopathology showed an adrenal adenoma. The patient had an uncomplicated delivery after 37 weeks of gestation. Cushing's syndrome is very rare in pregnancy. It may be difficult to diagnose because the clinical and laboratory signs of Cushing's syndrome may be similar to those of pregnancy.

Background Congenital unilateral absence of the vas deferens occurs in 0.5%–1.0% of males. It has been associated with various genitourinary abnormalities, including renal agenesis. We report a case of congenital unilateral absence of the vas deferens found incidentally during vasectomy in a patient with known unilateral renal agenesis. Case presentation A 24-year-old male presented to our urology clinic requesting vasectomy. His past history was significant for left renal agenesis. Following successful right vasectomy, several attempts to locate the left vas deferens were unsuccessful. We diagnosed congenital unilateral absence of the vas deferens. Follow-up semen analysis showed azoospermia. Conclusion As vasectomies are increasingly performed in outpatient settings, it is imperative that physicians be aware of this condition, which can be recognized by a simple physical exam. Recognition could prevent unnecessary surgery and prompt providers to investigate for associated abnormalities.