Publications by authors named "Paula Bogalho"
Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype.
Endocrinol Diabetes Metab Case Rep
May 2023
Summary: 17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174/100 mmHg), and laboratory results revealed hypokalemia and hypocortisolism.
View Article and Find Full Text PDFBackground: Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant condition and represents 1-5% of all cases of diabetes mellitus. MODY is often misdiagnosed as type 1 or type 2 diabetes. The rare subtype 5 (HNF1B-MODY) is due to hepatocyte nuclear factor 1β (HNF1B) molecular alteration and is remarkable for its multisystemic phenotypes characterized by a broad spectrum of pancreatic and extra-pancreatic clinical manifestations.
View Article and Find Full Text PDFArticle Synopsis
- A case of central diabetes insipidus (CDI) was reported in a 37-year-old woman after she received the second dose of the BNT162b2 mRNA COVID-19 vaccine, and this may be related to hypophysitis, a condition that can occur post-COVID-19 infection.
- Blood and urine analyses indicated excessive thirst and urination, consistent with CDI, but MRI showed no typical signs associated with hypophysitis, leading to the diagnosis of CDI.
- Desmopressin treatment was initiated for CDI, and the case has been reported to health authorities as it may represent a rare adverse effect linked to the COVID-19 vaccine.
Pheochromocytoma and paragangliomas (PPGL) are rare neuroendocrine tumors. In some patients they exhibit malignant behavior characterized by the presence of metastases, limiting treatment options and survival rates. Therapeutic options are limited to surgery, localized radiotherapy, and a few systemic therapies.
View Article and Find Full Text PDFIntroduction: Amiodarone-induced thyrotoxicosis (AIT) can sometimes lead to life-threatening complications, especially in patients with congenital heart disease (CHD). We report the case of a patient with refractory AIT that was successfully treated with thyroid arterial embolization (TAE).
Case Report: A 34-year-old man with complex cyanotic CHD complicated with heart failure (HF), pulmonary hypertension, and supraventricular tachyarrhythmias, was treated with amiodarone since 2013.