Journal of Clinical and Translational Endocrinology: Case Reports最新文献

Objective

We present three cases of thyroid dysfunction such as Hashimoto thyroiditis, Graves’ disease and subacute thyroiditis which developed few weeks after resolution of acute phase of COVID -19 infection in patients with no prior thyroid disease.

Methods

We discuss clinical presentation, diagnostic evaluation and subsequent management and follow-up in three patients.

Results

All three patients tested positive for COVID-19 infection prior to diagnosis. Patient 1. A 38-year-old female developed hypothyroidism 6 weeks after COVID-19 infection, confirmed by TSH 136 mIU/L (range 0.34–5.6), free T4 level 0.2 ng/dL (range 0.93–1.7). Patient 2. A 33-year-old female developed Graves’ disease 8 weeks after COVID-19 infection, with a TSH <0.01 mIU/L (range 0.4–4.5), Free T4 2.1 ng/dl (range 0.8–1.8), total T3 216 ng/dl (range 76–181), elevated TSI 309 (normal <140). A 24-h thyroid uptake was calculated at 47.1% (normal values between 8% and 35). Patient responded favorably to methimazole 10 mg in few weeks. Patient 3. A 41-year old healthy female developed thyroiditis at 6 weeks after COVID-19 infection, with a TSH 0.01 mIU/L and free T4 1.9 ng/dL accompanied by low 24-h thyroid uptake, calculated at 0.09%. Three weeks later, she developed hypothyroidism, with a TSH 67.04 mIU/L and free T4 0.4 ng/dl.

Conclusion

The temporal relationship between COVID-19 infection in the patients described here raises the question of possible effects of COVID-19 on the immune system and the thyroid gland.

We present a case of a 50-year-old woman with familial hypocalciuric hypercalcemia type 1 (FHH-1) that was missed during an initial evaluation of hypercalcemia in the setting of normal serum parathyroid hormone (PTH), leading to unnecessary parathyroidectomy. She subsequently reported years later with an inappropriately elevated PTH in the setting of hypercalcemia. Sequencing of the calcium-sensing receptor (CASR) gene revealed a known inactivating variant associated with FHH-1. We assessed the clinical utility of the recently reported pro-FHH (Probability of having familial hypocalciuric hypercalcemia) score at the time of her surgery and subsequent re-evaluation years later. This case highlights the diagnostic challenges in differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism (PHPT).

Tropical diabetic hand syndrome (TDHS) is a complex acute symptom found in unrecognized and underreported diabetes mellitus patients and often resulted from trivial trauma. Poor outcomes of TDHS may range from limb deformity, amputation to death which is associated with delayed treatment. A 40-year-old male with cellulitis and skin erosion on his left arm came to the emergency room. The initial complaint was small blister after a motorcycle accident seven days before admission. Diagnosis of diabetes mellitus, diabetic ketoacidosis (DKA), and TDHS was made. Emergency treatment for DKA was promptly done, followed by an immediate aggressive intravenous broad-spectrum antibiotic with antibiotic against anaerobic bacterial without culture sensitivity test result. The appropriate wound care was done 2 times/day. The patient demonstrated excellent outcome and continued to outpatient care after 13 days of hospitalization. TDHS can be diagnosed inpatient without a history of diabetes mellitus and may be associated with DKA. Immediate and aggressive broad-spectrum intravenous antibiotics, and appropriate wound care should be executed after diagnosis, to achieve a better outcome.

Objective

To describe a young woman with malignant pheochromocytoma related to a relatively novel pathogenic variant of MAX gene and to compare to previous case reports on MAX pathogenic variants.

Case report

A 19-year-old patient with a history of norepinephrine-secreting pheochromocytoma resected at age 11 presented to our clinic with symptoms and biochemical evaluation concerning for recurrence. After confirmation of recurrence, 3 metastatic lymph nodes were successfully resected. Genetic testing disclosed a pathogenic germline MAX variant c.22G > T. Her sister and father were found to harbor the same variant, but her paternal grandparents did not. Her sister had a baseline MRI and plasma metanephrines that were both normal.

Discussion

As whole gene panels are used more frequently for evaluation of hereditary pheochromocytomas, it is important to understand the different clinical phenotypes and natural histories that can be associated with each MAX variant. Our patient presented at a younger age than any other MAX-associated pheochromocytoma, possibly due to her variant translating an early stop codon and encoding a more dysfunctional protein. Available case reports suggest that 98% of MAX-associated pheochromocytomas are functional, which may inform screening procedures.

Conclusion

Clinicians should be aware of MAX-associated pheochromocytomas and how they may differ from other hereditary pheochromocytoma syndromes. For asymptomatic individuals with a MAX pathogenic variant, screening with plasma metanephrines without imaging may be a cost-effective and patient-centered approach.

Diabetic hemichorea/hemiballism is a spectrum of hyper kinetic involuntary, non patterned, continuous movements involving one side of the body. It involves contra lateral basal ganglia and often striatum in the brain. Here we are reporting an unusual case of choreiform movement disorder which was sudden in onset. It was accompanied with abnormally high values of blood glucose. Our patient had a complete remission of symptoms after an adequate control of blood glucose was achieved. This case illustrates the importance and rarity of having the knowledge about hyper glycemia as a rare cause of hemichorea as it recovers rapidly with a good prognosis. Screening for hyperglycemia even in those patients without a prior history of diabetes is very important, once they present with an involuntary movement disorder. Recognition and early treatment is beneficial to prevent adverse outcomes. Today, in the medical literature it is often referred to as CHBG (chorea, hyperglycemia, basal ganglia) syndrome.

A 60-year female with no preceding thyroid disease presented in August 2020 with severe debilitating progressive motor weakness of her lower limbs. Initial investigations revealed an acute myopathy secondary to thyrotoxicosis. On further review it was noted that the patient had ceased amiodarone treatment for rhythm control of atrial fibrillation and associated tachyarrhythmia-induced cardiomyopathy 10 days prior to admission to hospital. The patient was treated with high dose carbimazole and prednisone with marked improvement in mobility over the next 2 weeks. Her weekly thyroid function tests continued to ameliorate with progressive improvement in her mobility and return to functional baseline over a two-month period.

Introduction

Children commonly present in diabetic ketoacidosis (DKA) secondary to Type 1 diabetes mellitus. Electrolyte imbalances and cerebral edema are common complications in the pediatric age group; however, patients may also have additional metabolic disturbances such as hyperlipidemia. We report a case of a pediatric patient with new-onset type 1 Diabetes Mellitus (DM) and DKA complicated by severe hypertriglyceridemia with recent exposure to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection.

Case presentation

A three-year-old male noted to be SARS-CoV-2 positive, presented with hyperglycemia, metabolic acidosis, and ketosis consistent with DKA. Patient was later found to have severe hypertriglyceridemia (greater than 5680 mg/dL). He was managed with intravenous (IV) fluids and IV insulin replacement with improvement of triglycerides.

Conclusion

Severe hypertriglyceridemia in DKA, though rare in the pediatric population, responds very well to IV insulin therapy. This case also highlights possible need for early lipid screening in DKA patients with SARS-CoV-2 positive status.

Thyroid hormones are essential for differentiation and function of oligodendrocytes, contributing to the process of myelination, development and maturation of the nervous system. Prematurity and low birth weight are conditions commonly present in multiple pregnancies and the immaturity of the hypothalamic-pituitary-thyroid axis can result in changes in thyroid hormones. Peliazeus-Merzbacher's disease (PMD) is a rare form of hypomyelinating leukodystrophy with X-linked inheritance. The aim of this report is to present an uncommon association of PMD and subclinical hypothyroidism in same-sex twins and discusses relevant aspects of the diagnostic and therapeutic approach.

Abstract

We present a case of untreated Congenital adrenal hyperplasia presenting with bilateral giant Adrenal myelolipoma and Testicular adrenal rest cells.

Methods

We discuss clinical presentation diagnostic evaluation and subsequent management and follow up of CAH with TART's.

Results

Our patient was not adherent to Glucorticoid and mineralocorticoid treatments between age 18 to 47 and presented with back pain most likely resulting from Bilateral giant adrenal myelolipoma. Interestingly he did not require any stress steroids during this time. His adrenal myelolipoma progressively increased in size. Comparison CT is available from 2004 to 2020. Testicular adrenal rest cells and possibly infertility also resulted from uncontrolled CAH for a long period of time.

Conclusion

This case demonstrates the significance of CAH treatment compliance and highlights sequela and management of untreated CAH.

A 62-year-old female presented to a tertiary hospital for a syncopal episode after being discharged from the emergency room of a neighboring university hospital. The patient complained of syncope and other symptoms gradually worsening over the past 5 years. Her symptoms included weakness, loss of consciousness, forgetfulness, nightmares, confusion paranoia and involuntary movements of her upper and lower extremities. She also complained of frequent falls of unknown etiology. On several occasions during these episodes, her husband had to revive her with chocolate bars after prolonged activity. An insulinoma undercover of psychogenic crises was diagnosed after several years and after several visits to different specialty groups: notably psychiatry, neurology, neuropsychiatry, and cardiology.