Endocrine Abstracts

Introduction: CHARGE Syndrome (CS) is a rare cause of hypogonadotropic hypogonadism (HH), usually diagnosed in paediatric age when pubertal development is compromised. Herein, we report a case that presented a major criterion and three minor criteria.Case report: At age ten, the patient was referred to the paediatric endocrinology unit due to phenotypic alterations and psychomotor and cognitive impairment. She had no family history of consanguinity, inhe...

Postpartum thyroid dysfunction occurs in 5–10% of women in the general population within one year of delivery. The prevalence of postpartum Graves’ disease is estimated at 0.54%. Postpartum thyroiditis is much more common. Differential diagnosis is essential for an adequate treatment. Radioactive iodine uptake can be useful to establish the etiologic diagnosis, but is contraindicated during lactation. Elevated titers of antithyrotropin receptor antibodies (TRAbs) are...

Introduction: Hypothyroidism can affect the nervous system, commonly causing mono and polyneuropathies which show a variable frequency and pattern. Its mechanisms are not fully understood. Symptoms usually correlate better with the duration of the dysfunction rather than with its severity and typically improve significantly after medical therapy.Case report: A 58-year-old woman was admitted at our hospital with a one-year history of progressive weakness ...

Background: Calcitonin is a hormone secreted by thyroid C cells, and is considered an excellent marker for medullary thyroid carcinoma (MTC). However, the use of calcitonin to screen patients with nodular thyroid disease (NTD) remains controversial.Objective: Defining the frequency of hypercalcitoninemia among NTD patients followed at a tertiary referral hospital.Methods: Retrospective analysis of basal calcitonin measurements and ...

Introduction: Identification of molecular markers with a reliable prognostic value may greatly improve the management of patients with papillary thyroid carcinoma (PTC). Rac1b, a hyperactive splice variant of the small GTPase Rac1, was found to be overexpressed in colorectal, breast and lung cancer. It has been shown to sustain tumor cell survival in colorectal cancer and was reported to have a key role in the malignant progression of breast and lung tumors. The Rac1b tumorige...

Introduction: 131I therapy in patients with papillary thyroid carcinomas (PTC) ≤2 cm and without extrathyroidal extension (T1) depends on multifactorial analysis: age, multifocality, histological criteria, lymph node or systemic metastasis. The study purposes were analyze PTC-T1 and compare the groups treated only with surgery vs combined therapy (surgery and 131I).Methods: Retrospective analysis of clinical files of PTC-T1 pa...

Introduction: After treatment with Iodine-131(I-131) in differentiated thyroid cancer, a diagnostic scintigraphy is performed. We selected three cases in which bronchiectasis appear as a false-positive on the scintigraphy after treatment with I-131.Case reports: Three women, respectively 62, 64 and 65 years old, being followed in the Endocrinology Department of our Institute, with the diagnosis of papillary carcinoma of the thyroid, were submitted to I-1...

Introduction: Anaplastic thyroid carcinoma, either by its low frequency, or by its poor prognosis, is still as a therapeutic challenge. One of the options available is the combined chemoradiation therapy, the basis of the following case.Case report: Male patient, 76 years old, with a history of neck swelling for 4 months. The cervical ultrasound showed a nodule in the right lobe of the thyroid with 7 by 5 cm and the cytology revealed follicular tumor. Su...

We present the case of a 24-year-old melanodermic male patient from Angola referred to the Endocrinology department of a central hospital, in Lisbon, Portugal. He presented skeletal deformities and joint laxity, and numerous mucosal neuromas of the oral cavity since early childhood. Recurrent diarrhea was also reported but elevated blood pressure was not observed at that time. Multinodular goiter (nodules>40 mm) was identified in physical examination and microcalcification...

IntroductionThe Sodium Iodide Symporter (NIS) is responsible for the active transport of iodide into thyroid cells. Most of differentiated thyroid carcinomas (TC) retain the functional expression of NIS, which allows the use of radioiodide (RAI) as the systemic treatment of choice for metastatic disease. Still, a significant proportion of patients with advanced thyroid cancer fail to respond to RAI therapy (refractory-TC), which makes their management ve...