Endocrine Abstracts

Introduction: Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of disorders that have in common end-organ unresponsiveness to parathyroid hormone (PTH). The most frequent form, PHP type 1, results from different genetic/epigenetic changes in the GNAS gene.Case 1: Woman, 25 years-old, sent to Endocrinology from Genetics consultation after her daughter had been diagnosed with PHP type 1a (heterozygous pathogenic variant at exon 13 of...

Introduction: Amyloidosis results from deposition of insoluble proteins in the extracellular space. It can be both primary or secondary to chronic inflammatory diseases. Although microscopic thyroid involvement is common, cases in which it becomes clinically evident (amyloid goiter) are rare.Case report: Woman, 45 years. In 2009, she was diagnosed with Crohn’s disease after Bartholin’s gland abscess excision and evaluation for weight loss, anem...

Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder. It can be sporadic or familiar and is divided into anosmic hypogonadotropic hypogonadism (Kallmann syndrome - KS) and congenital normosmic isolated hypogonadotropic hypogonadism (idiopathic hypogonadotropic hypogonadism ‐ IHH). A growing number of genes are involved in its etiology, suggesting the heterogeneity and complexity of this condition.Cases Reports: Six cases...

Background: The review of the Bethesda System Classification has brought some challenge to the clinical role of category III lesions. Repeating fine-needle aspiration (FNA) is time-consuming, painful, brings additional cost and sometimes does not change the clinical decision. Our aim was to prove if there is true benefit in repeating FNA.Methods: Retrospective review of 4549 thyroid FNAs between January 2012 and June 2015, from which 671 classified as AU...

Introduction: Patients with diabetes have an increased risk of low-energy bone fractures (LEF). Traditional clinical risk factors and bone mineral densitometry underestimate LEF risk in diabetics. We aim to evaluate the frequency of LEF and associated risk factors in the diabetic Portuguese population.Methods: National, cross-sectional and population-based study to describe the prevalence of self-reported LEF in diabetic subjects over 40 years-old. Estim...

Introduction: Struma ovarii is a rare form of ovarian teratoma mostly composed of thyroid tissue. In about 5% of the cases, well-differentiated thyroid carcinoma may arise in struma ovarii. As this medical entity is so exceptional, there is still no consensus on diagnosis and treatment.Case Reports: A 52-year-old old woman was submitted in 2009 to total hysterectomy with bilateral adnexectomy and pelvic lymphadenectomy. Histopathology r...

Introduction: Adrenal insufficiency (AI) is a rare and potentially life-threatening disease. The most common causes are primary adrenal insufficiency (Addison’s Disease), due to an adrenocortical disease, and secondary insufficiency, due to disorders of the pituitary gland. Chronic glucocorticoid replacement is vital and patients should be educated about how to act in acute stress situations, in order to avoid adrenal crisis. Taking this into account, we organized educati...

Introdution: Central diabetes insipidus(CDI) is a rare disease, with multiple aetiologies such as cranioencephalic traumatism and multiple sclerosis (ME). However, the association with ME is not commonly described. The clinical suspicion must be made in the presence of polyuria and polydipsia.Case report: Woman, 67 years-old, revealing history of ME relapsing-remitting subtype with 8 years of evolution, hypertension and dyslipidemia, medicated with inter...

Introduction: Polycystic ovary syndrome (PCOS) is one of the most common causes of anovulatory infertility. Polymorphisms in genes related to follicular recruitment and development, such as the follicle-stimulating hormone receptor (FSHR) and the oestrogen receptor 1 (ESR1) genes, and their impact on biochemical phenotype and response to controlled ovarian stimulation in women with PCOS have been studied in different populations, with inconsistent results.<p class="abstext...