Endocrine Abstracts

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 ...

Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 30% of pituitary gigantism cases. However, pathological accelerated growth and/or tall stature can be unrelated to the growth hormone (GH) axis, and may occur in isolation or as part of a syndrome, such as in Klinefelter, Marfan or Sotos syndromes. We report a five-generation kindred with two brothers with pituitary gigantism due to AIP mutation-positive GH-secreting pi...

Background: Serum thyroglobulin (Tg) is a reliable tumor marker in patients with differentiated thyroid carcinoma (DTC). Distant metastases of DTC, particularly in the lung, normally presents with higher levels of Tg, which is useful to follow the disease evolution. We describe a patient with DTC with lung metastases, with undetectable Tg and Tg-antibodies (TgAb).Clinical case: A 52-year-old woman underwent a subtotal thyroidectomy in 1993 because of a g...

Introduction: Seip–Berardinelli congenital lipodystrophy (SBCL) is an extremely rare autosomal recessive disorder characterized by a congenital absence of adipose tissue. Hepatic steatosis, splenomegaly, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, insulin-resistance and diabetes mellitus (DM) are some of the features of these patients.Case report: A 20-year-old caucasian-male patient was referred to pediatric endocrinology unit at 6-mo...

Introduction: Clinically non-functioning pituitary tumors (NFPTs) lack clinical or biochemical evidence of pituitary hormone excess. Their clinical presentation is heterogeneous, including mass effect-related symptoms and/or hypopituitarism, or even no symptoms in incidentally-detected NFPTs. We aimed to evaluate the clinical presentation spectrum of NFPTs in a cohort of patients managed at our hospital.Methods: Clinical, demographic, biochemical and ima...

Introduction: In our practice we’ve been following some oncologic survivors patients with low-low/normal levels of testosterone who are asymptomatic. Aims: to determine the levels of total (TT) and free testosterones (FT) and dihydrotestosterone (DHT) in healthy men, in order to find the reference intervals (RI) adjusted to our population and compare them with those provided by the kit-producers (KP).Methods: We collected blood samples from 125 heal...

Introduction: Polycystic ovary syndrome (PCOS) affects 5–8% of reproductive-age women. The morbidity related to PCOS may include insulin-resistance, type 2 diabetes mellitus (T2DM), obesity, hypertension, cardiovascular disease and infertility. We aimed to evaluate the clinico-biochemical characteristics of PCOS women and establish its relationship with fertility treatment outcomes.Methods: We reviewed clinical records of PCOS women (Rotterdam crite...

Introduction: Full blood count (FBC), C-reactive protein (CRP), albumin and serum inflammation-based scores reflect systemic inflammation and predict outcomes in oncological patients. While these are increasingly used in cancer, little is known in pituitary adenomas (PAs). We aimed to characterise FBC and inflammation-based scores in patients with PAs and investigate the usefulness of such parameters in predicting aggressive/refractory disease.Methods: W...

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...

Pseudoacromegaly or acromegaloidism is used to describe cases where acromegaly-related physical appearance can be observed without any abnormality in the growth hormone (GH) axis. Acromegalic features, in particular coarse facies, together with hypertrichosis, are typical manifestations of one of the pseudoacromegaly conditions: hypertrichosis acromegaloid facial features (HAFF) syndrome. This condition phenotypically overlaps with Cantu syndrome and acromegaloid facial appear...