Searchable abstracts of presentations at key conferences in endocrinology

ea0063ep123 | Reproductive Endocrinology | ECE2019

Klinefelter syndrome and hypogonadotropic hypogonadism: an unusual presentation

Matos Tania , Costa Cristiana , do Vale Sonia

Introduction: Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, despite becoming evident only after puberty. The syndrome is characterized by a primary gonadal defect, which results in small testes due to hyalinization of the seminiferous tubules, low to low normal range of serum testosterone levels and elevated serum gonadotrophins. Paradoxically, a few cases have been described, presenting with hypogonadotropism.Case-repor...

ea0081p325 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

Association between the coefficient of glycemic variation and time in range, below and above range in continuous monitoring glucose systems in type 1 diabetes

Gomes da Costa Cristiana , Matos Tania , Vale Sonia

Introduction: Glycemic variability (GV) is a major consideration when evaluating quality of glycemic control. Coefficient of glycemic variation (%CV) is the metric of choice to define GV. International consensus on continuous glucose monitoring (CGM) recommends a %CV <36. Additional studies suggest that low %CV minimize hypoglycemia events <54 mg/dl.Aims: The aim of this analysis is to examine the expected relationship between the coefficient of ...

ea0081p629 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

Deep soft tissue masses as a manifestation of type 2 diabetes

da Costa Cristiana Gomes , Jacome Morgado Francisca , Vale Sonia

Introduction: Xanthomas are defined as aggregates of lipid-laden histiocytes. They are generally present in superficial soft tissues such as skin and subcutis but can occasionally involve deep soft tissues. Xanthomas are classically associated with hyperlipidemia, that can be primary or secondary to numerous disorders such as diabetes. This case highlights an atypical manifestation of T2D.Case report: A 61-year-old women was referred to our endocrinology...

ea0081p486 | Thyroid | ECE2022

Resistance to methimazole in a patient with Graves’ disease

Roque Joao , Costa Cristiana , Marques Pedro , Reis Dinis

Introduction: Graves’ disease (GD) is caused by TSH receptor antibodies (TRAbs) which stimulate thyroid activity. Initial treatment usually relies on antithyroid drugs (ATDs), mainly methimazole, carbimazole or propylthiouracil (PTU). These drugs inhibit the enzyme thyroperoxidase, blocking the synthesis of T3 and T4. Definitive therapeutic options include radioactive iodine and total thyroidectomy which are usually reserved for patients who do not tolerate or respond to ...

ea0081p487 | Thyroid | ECE2022

Pazopanib-induced hypothyroidism in a patient with adrenal metastasis of renal cell carcinoma

Gomes da Costa Cristiana , Roque Joao , Reis Dinis

Introduction: Pazopanib is a tyrosine kinase inhibitor (TKI) considered to be a first-line treatment in adult patients with metastatic clear cell renal cell carcinoma (ccRCC). Thyroid dysfunction, namely hypothyroidism, is now recognized as being an important but potentially manageable side effect induced by such therapy. With this case we aimed to recall an endocrinological complication that can emerge during treatment with TKIs and highlight the importance of a thorough foll...

ea0063p864 | Adrenal and Neuroendocrine Tumours 3 | ECE2019

X-linked adrenoleukodystrophy phenotype evolution - is family history important?

Matos Tania , Jorge Zulmira , Costa Cristiana , do Vale Sonia

X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, characterized by deficient beta-oxidation of saturated very long chain fatty acids (VLCFA). The accumulation of VLCFAs is associated with demyelination of the nervous system, and impairment of steroid hormone synthesis in the adrenal cortex and the testis. The range of phenotypic expression is wide and dynamic. The three presentations most commonly seen are the childhood cerebral forms, a...

ea0063ep12 | Adrenal and Neuroendocrine Tumours | ECE2019

Lost to follow-up in classic congenital adrenal hyperplasia: a case report

da Costa Cristiana Gomes , Matos Tania , do Vale Sonia

Introduction: Classic congenital adrenal hyperplasias (CAH) are mostly diagnosed in the first months/years of life and require a lifetime follow-up.Case report: A 33-year-old Caucasian man was admitted twice in the previous year to the emergency department; the first episode due to an acute tonsillitis, the second episode due to a lower respiratory tract infection, both associated with hyponatremia (125 mmol/l). Common causes of hyponatremia were exclude...

ea0049ep1012 | Pituitary - Clinical | ECE2017

Sheehan syndrome: Sequential hormone failure and late diagnosis

Costa Cristiana , Martins Ana Filipa , Araujo Alexandra , Vale Sonia do

Introduction: Postpartum infarction of the anterior pituitary, known as Sheehan’s syndrome, is a rare cause of hypopituitarism. In many cases, the hormones deficiency is sequential which implies late diagnoses.Case Report 1: A 51-year-old woman was observed because her mother had medullary thyroid carcinoma. She had no evidence of endocrine neoplasia. Nevertheless, she was experiencing fatigue, hair loss and dry skin for several months. Her history ...

ea0056ep27 | Adrenal and Neuroendocrine Tumours | ECE2018

Optic neuritis and ectopic Cushing Syndrome: a case report

Matos Tania , Costa Cristiana , Martins Ana Filipa , Vale Sonia

Introduction: Ectopic Cushing syndrome caused by a neuroendocrine tumor is uncommon and it’s diagnosis is often delayed. Optic neuritis is another rare disease, with some cases also associated to neuroendocrine tumors.Case-report: A 43-year-old female was referred to the endocrinology outpatient’s department due to obesity. She had a past history of bilateral optic neuritis of unknown etiology. She complained of weight gain, hair loss, acne, hi...

ea0049gp213 | Thyroid 2 | ECE2017

IgG4-related fibrous variant of Hashimoto thyroiditis in a non-Asian woman

do Vale Sonia , Filipa Martins Ana , Costa Cristiana , Batista Lucas , Mendes de Almeida Margarida

Introduction: First described in 2009, IgG4-related thyroid disease includes several subcategories: Riedel’s thyroiditis, fibrous variant of Hashimoto thyroiditis (FVHT), IgG4-related Hashimoto thyroiditis (HT) and Graves’ disease with elevated IgG4. It is rare, with most cases described in Japan and characterized by increased IgG4 plasma cells at immunostaining.Case Report: A 59-year-old Caucasian women, without known Asian ancestry, was obser...