Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders where the cortisol biosynthesis is impaired. There are two forms of CAH: the classic form, which includes the salt-wasting and the simple virilizing forms, and the nonclassic form. CAH due to 21-hydroxylase deficiency accounts for 95% of cases. Treatment of the classic form of CAH is targeted at replacing cortisol and aldosterone and effectively controlling excess androgen symptoms by using...

The widespread of sensitive imaging methods have substantially increased the incidental finding of subclinical thyroid nodules. The ‘epidemic’ of thyroid incidentaloma has raised numerous discussions regarding their management: Is it necessary to investigate all nodules or is surveillance sufficient? Which criteria should be used in order to identify the nodules which must be investigated by fine-needle aspiration (FNA) (size, echogenicity, vascularisation)? Should w...

Introduction: McCune-Albright syndrome (MAS) is a rare genetic disorder caused by somatic gain-of-function mutations in the GNAS gene, leading to persistent activation of the stimulatory alpha subunit of the G protein cellular signaling complex and dysregulated cyclic AMP production in the target tissues. The phenotype, although highly variable, is classically defined as the triad of fibrous dysplasia of the bone, cafe-au-lait skin macules and hyperfunctioning endocrinopathies...

Introduction: Metastatic disease into the thyroid is a rare event, despite the gland’s rich vascular supply. Renal cell carcinoma (RCC) is an unusual neoplasm that not only has the potential to recur after a latent disease-free interval, but also has the potential to metastasize to rare sites like the thyroid. However, of the clinically significant secondary neoplasms of the thyroid, metastatic RCC is the culprit in most cases. Case report: We prese...

Graves’ thyrotoxicosis frequently occurs after delivery through immune rebound mechanism. A 34 years old patient, in postpartum period was referred to rheumatologist for gradually gait impairment. Examination showed only weakness of pelvic girdle muscles which required an extensive differential diagnosis including: neurological diseases and inflammatory/metabolic/toxic myopathies. Routine lab tests were unremarkable except low cholesterol (128 mg/dl) and slightly increase...

Polycystic ovary syndrome (PCOS) is a major source of psychological morbidity and can negatively affect quality of life. The aim of the study was to identify characteristics of self-concept in female patients diagnosed with PCOS (n=22, mean age 26+/− 11 years) and comparative analysis with a control group (n=22).Methods: Psychology questionnaire, selection tests based on geometrical figures/ words and also graph logical analysis were ...

Background: Mutations in the ACTH receptor (MC2R) gene or in its melanocortin accessory protein (MRAP) gene disrupt receptor expression, signaling, and constitutive activity of the MC2R, leading to familial glucocorticoid deficiency (FGD) type 1 and type 2 respectively. FGD is a life-threatening, rare autosomal recessive disorder characterized by impaired cortisol synthesis and classically preserved mineralocorticoid production. There have also been described other mutations t...

Introduction: Uric acid may increase cardiovascular risk, exerting proinflammatory, pro-oxidant and proliferative actions at the endothelial cell level. Classic and non-classic cardiovascular risk markers cluster in women with polycystic ovary syndrome (PCOS), uric acid being proposed as one of them. The studies available at present regarding serum uric acid levels in PCOS patients are scarce and controversial. The aim of the study was to examine the relationship between uric ...

Growth hormone deficiency leads to profoundly decreased growth velocity and, when untreated, to pituitary dwarfism. We evaluated growth evolution for one to four years under rGH therapy (0.07 IU/kg/day, subcutaneously) at seventeen idiopathic pituitary dwarves with isolated GH deficiency, 13 boys and 4 girls, with a wide span of age at therapy onset (between 4 and 24 years old). Diagnosis was set subsequent to at least two negative GH stimulation tests. All patients were pre-p...

Hypokalemic periodic paralysis is an uncommon complication of thyrotoxicosis especially in Caucasian women. It is most frequent in east asian and Japanese males and is characterized by recurrent episodes of motor weekness of variable intensity associated with hyperthyroidism. It is usually associated with low plasma potassium levels and is often precipitated by physical activity. This condition is a self limiting disorder that is cured by the treatment of the underlying hypert...