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1.
Am J Case Rep ; 25: e943005, 2024 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-38582958

RESUMO

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.


Assuntos
Neoplasias das Glândulas Suprarrenais , Hiperplasia Suprarrenal Congênita , Lipoma , Mielolipoma , Adulto , Feminino , Humanos , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Glândulas Suprarrenais , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Glucocorticoides/uso terapêutico , Mielolipoma/diagnóstico , Mielolipoma/cirurgia , Mielolipoma/complicações , Esteroide 21-Hidroxilase/genética
2.
Biomedicines ; 12(2)2024 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-38398063

RESUMO

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.

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