Giant Bilateral Adrenal Myelolipomas in a Non-Compliant Patient with Congenital Adrenal Hyperplasia.

BACKGROUND 21-hydroxylase deficiency, an essential enzyme for glucocorticoid and mineralocorticoid synthesis, is the cause of congenital adrenal hyperplasia (CAH) in more than 95% of cases. It is an autosomal recessive disorder encoded by the CYP21A2 gene, categorized into classical forms, which encompass the salt-wasting (SW) and simple virilizing (SV) forms, as well as the nonclassical form (NC). The aim of medical treatment is to replace missing glucocorticoids and, if necessary, mineralocorticoids, while also reducing elevated adrenal androgens. CASE REPORT We present the case of a 42-year-old woman with CAH who discontinued therapy during adolescence and was admitted to hospital with fatigue, nausea, and severe abdominal pain. A CT scan showed an extreme enlargement of the adrenal glands. Laboratory tests revealed elevated levels of 17-hydroxyprogesterone and other adrenal androgens, along with normal plasma metanephrine levels. Decreased morning cortisol levels suggested partial adrenal insufficiency requiring glucocorticoid replacement therapy. Due to the development of several serious complications and clinical deterioration, the multidisciplinary team recommended bilateral removal of masses measuring 300×250×200 mm on the right side and 250×200×200 mm on the left side. Histological and immunochemical examination confirmed the presence of giant myelolipomas with adrenal cortex hyperplasia. CONCLUSIONS Adrenal tumors, particularly myelolipomas, have a higher prevalence in patients with CAH. Our case report provides further evidence of the suspected link between non-compliant CAH therapy and the development of myelolipomas, along with promotion of their pronounced growth.

Muscle Dysfunction and Functional Status in COVID-19 Patients during Illness and after Hospital Discharge.

BACKGROUND: COVID-19 pneumonia is associated with SIRS and hypercatabolism. The aim of this study was to determine muscle loss during the acute phase of COVID-19 pneumonia and evaluate long-term sequelae in discharged patients. METHODS: A total of 16 patients with COVID-19 pneumonia and respiratory insufficiency were included in the study. Selected parameters (weight, BMI, LBM = lean body mass, albumin, CRP, NLR = neutrophil-to-lymphocyte ratio, ultrasound measured thickness of rectus femoris muscle = US RF and rectus femoris + vastus intermedius = US RF + VI, handgrip strength, quality of life = EQ-5D questionnaire, and activities of daily living = Barthel's ADLs) were recorded on admission, discharge, and 1, 3, and 6 months after discharge. RESULTS: The most significant changes were between hospital admission and discharge: US RF and RF + VI (-1.28 ± 1.97 mm, p = 0.046; -1.76 ± 2.94 mm, p = 0.05), EQ-5D score (14.6 ± 19.2, p = 0.02), and ADLs (17.1 ± 22.6; p = 0.02). There was a significant positive correlation between US RF + VI and handgrip strength (p = 0.014) and a negative correlation between weight and Barthel index (p = 0.012). There was an association between muscle function with an EQ-5D score and ADLs during outpatient check-ups, most noticeably between handgrip strength, US RF+VI, and ADLs (p = 0.08; p = 0.1, respectively). Conclusions: In patients with COVID-19 pneumonia, there is a significant reduction of health-related quality of life, impaired even 6 months after hospital discharge, influenced mainly by muscle loss. During the hospital stay, there was a significant muscle mass reduction. Ultrasound measurement of thigh muscle thickness may be a useful method to monitor muscle loss.

Severe Cushing's syndrome from an ectopic adrenocorticotropic hormone-secreting neuroendocrine tumour treated by osilodrostat.

Summary: Severe Cushing's syndrome from an ectopic adrenocorticotropic hormone-producing tumour is rare but often demands rapid diagnostics and treatment of hypercortisolism with its comorbidities. Pharmacotherapy of hypercortisolism by ketoconazole, metyrapone and osilodrostat is currently available. If unsuccessful or insufficient a bilateral adrenalectomy is an option. We present a 28-year-old female with severe Cushing's syndrome caused by a bronchial metastatic neuroendocrine tumour (NET). Hypercortisolism was efficiently treated by osilodrostat with block-replace and then titration regimen. A once-daily dose was finally used with normalised cortisol levels. Androgen levels measured by liquid chromatography-mass spectrometry were slightly elevated during the treatment but without any symptoms. A simple once-daily use of osilodrostat with titration regimen led to normalised cortisol levels in a severe Cushing's syndrome patient with an uncurable bronchial NET. Transient hypocortisolism during treatment appeared but was easily treated by hydrocortisone. Learning points: Cushing's syndrome from an ectopic adrenocorticotropic hormone-producing tumour is rare. Cortisol upregulation is often severe and rapid, though clinical signs are not always fully pronounced. Rapid treatment is a key for preventing and reducing complications such as fractures, thromboembolism, bleeding, hyperglycaemia, and arterial hypertension. The novel potent steroidogenesis inhibitor osilodrostat can be used as first-line treatment for reducing hypercortisolism.

A New Heart-Cutting Method for a Multiplex Quantitative Analysis of Steroid Hormones in Plasma Using 2D-LC/MS/MS Technique.

The aim of the current research was to develop a simple and rapid mass spectrometry-based assay for the determination of 15 steroid hormones in human plasma in a single run, which would be suitable for a routine practice setting. For this purpose, we designed a procedure based on the 2D-liquid chromatography-tandem mass spectrometry with a minimalistic sample pre-treatment. In our arrangement, the preparation of one sample takes only 10 min and can accommodate 40 samples per hour when tested in series. The following analytical run is 18 min long for all steroid hormones. In addition, we developed an independent analytical run for estradiol, significantly increasing the assay accuracy while taking an additional 10 min to perform an analytical run of a sample. The optimized method was applied to a set of human plasma samples, including chylous. Our results indicate the linearity of the method for all steroid hormones with squared regression coefficients R2 ≥ 0.995, within-run and between-run precision (RSD < 6.4%), and an accuracy of 92.9% to 106.2%. The absolute recovery for each analyzed steroid hormone ranged between 101.6% and 116.5%. The method detection limit for 15 steroid hormones ranged between 0.008 nmol/L (2.88 pg/mL) for aldosterone and 0.873 nmol/L (0.252 ng/mL) for DHEA. For all the analytes, the lowest calibration point relative standard deviation was less than 10.8%, indicating a good precision of the assay within the lowest concentration of interest. In conclusion, in this method article, we describe a simple, sensitive, and cost-effective 2D-LC/MS/MS method suitable for the routine analysis of a complex of steroid hormones allowing high analytical specificity and sensitivity despite minimal sample processing and short throughput times.

Pharmacologically induced thyreopathy in patients with cardiovascular disease.

Thyroid gland function is mediated by thyreoideal hormones, in which iodine is very important structural part. High iodine intake, can initiate thyroid dysfunction. Amiodarone induced hypothyroidism is treated with levothyroxine and amiodarone taking is not interrupted. Amiodarone induced hyperthyroidism is divided into two subtypes, which differ by mechanism of origin and treatment strategy. In patients with cardiovascular disease is higher possibility of getting substances, with high content of iodine in diagnostic-therapeutic examination with contrast or treatment with amiodarone. In this group of patients is necessary to control thyroid function regularly and to hold preventive actions.