Endocrine Abstracts

Introduction: Combined pituitary hormone deficiency (CPHD) is characterized by impaired production of pituitary hormones. A possible cause are PROP-1 mutations (prophet of Pit-1 protein). It plays an essential role in the evolution of pituitary cells secreting GH, TSH, LH, FSH, prolactin; some patients may develop late ACTH deficiency. PROP 1 gene mutation is manifested with variable degrees of phenotype-genotype correlation, with growth failure as the first sign detected in e...

McCune-Albright Syndrome (MAS) is a rare congenital sporadic disorder due to an embryonic post-zygotic somatic mutation in the GNAS1 gene, defined by the triad of peripheral precocious puberty (PPP), unilateral café-au-lait spots and fibrous dysplasia (FD) of bone. PPP or precocious pseudopuberty is the most common endocrinopathy seen in MAS. Other hyperfunctioning endocrinopathies include hyperthyroidism, acromegaly, FGF23-mediated hypophosphatemia and neonatal hypercort...

About 1% of the patients with Graves’ disease develop myasthenia gravis, however, euthyroid Graves’ ophtalmopathy has only rarely been associated with myasthenia gravis and especially with isolated ocular myasthenia gravis. A 63-year old, male patient with vitiligo presented double vision and right ptosis, shortly followed by left ptosis. On the ophthalmological examination there was bilateral ptosis and orbito-ocular ultrasonography yielded a thickening of the left ...

Genetic predisposition to autoimmunity is probably predominant. Major histocompatibility complex (MHC) alleles and non-MHC loci such as polymorphism of the cytotoxic T lymphocyte antigen-4 (CTLA4) gene have been identified as susceptibility markers. The autoimmune thyroid diseases are the most common organ-specific autoimmune diseases. They are characterized by the infiltration of the parenchyma by immune cells including T and B cells as well as macrophages. Ones a T cell is a...

The strong link between bone mass and body composition is widely recognized but only few studies were selectively performed on healthy subjects with body mass index within normal limits. We aimed to evaluate the influence of body composition on bone mass in apparently healthy young non-obese men and women (n=40). To reveal the effect of menopausal transition on the fat mass content, fat mass distribution and fat mass-bone mineral density relationship we compared body co...

Introduction: Paraneoplastic Cushing syndrome is a rare form of endogenous ACTH (adrenocorticotropic hormone) dependent hypercortisolism. In some cases no overt ACTH secretion tumor can be found, which is why steroidogenesis inhibitors, and bilateral adrenalectomy remain the main therapeutic options.Material and method: This is a case report investigated in several centers by performing biochemical, hormonal and imagery tests.Case ...

Introduction: Bulimia is an eating disorder characterized by constant preoccupation with food, irresistible cravings for food and binge eating episodes. The data regarding the incidence of bulimia in people with diabetes are contradictory. The glycemic variations subsequent to binging and vomiting leads to complications like retinopathy, kidney or liver failure, hypoglycemic comas and electrolyte imbalances.Case presentation: A 57-year-old female, diagno...

Introduction: Pain in the groin area is frequently encountered in football players, the cause being a sport hernia, muscle tears, avulsions, sacroiliac joint pathology, etc. Local corticosteroid injections (LCIs) are often used as one of the first-line treatments in the conservative management because of their ease of delivery, low cost and efficacy.Case presentation: A 32-year-old amateur futsal player (goalkeeper) diagnosed with type 1 diabetes at the ...

Adrenocorticotropic hormone (ACTH) adenomas causing Cushing’s disease (CD) have been recognized as an aggressive and invasive subtype of pituitary adenomas. Remission of CD without surgical or medical treatment is an extremely rare occurrence. Moreover, a clinically relevant peculiarity of these tumors, though rarely observed, is their ability to modify their clinical expression from a silent form to CD or vice versa, the latter even more unexpected. We describe the case ...

Background: Triple A (Allgrove) syndrome is a rare genetic disorder with autosomal recessive inheritance, caused by mutations in the AAAS gene on chromosome 12q13. It is characterized by the following triad: ACTH-resistant adrenal insufficiency, alacrimia, and achalasia.Case presentation: We present the case of a 19-year-old male who was diagnosed with adrenal insufficiency at the age of five following an addisonian crisis with hypoglycemic coma. At the ...