Endocrine Abstracts

Introduction: We report stage IV B cell lymphoma in a patient presenting with adrenal failure and an intraabdominal mass which imaging techniques were suggestive for paraganglioma.Case report: A 71-years-old woman admitted to our emergency clinic with severe fatigue and stupor. She was diagnosed to have primary adrenal failure since serum ACTH was 229 pg/ml and cortisol response to 250 μg co-syntropin was 6.17 μg/dl. In abdominal MRI, bilateral...

For years it was thought that the excess male mortality compared to age-matched females was explained by unhealthy behaviours that were more acceptable for men, and not the inherent sex differences in biology. The intention of this review is to illustrate whether it is our environment, hormones or genes that really make the sexes different in terms of the cardiovascular system. My focus will be on the genetic difference between men and women, in particular, the Y chromosome, a...

Introduction: Couple’s infertility is a major public health problem. Its prevalence is estimated at 15%. In half of the cases, this infertility is of male origin. Different etiologies may be involved, among which genetic abnormalities of the Y chromosome. In this context, we report the cases of two patients with a structural abnormality of the Y chromosome responsible for the abnormalities of spermatogenesisCase Description: The first 26-year-old ca...

The hypothalamus regulates multiple homeostatic systems, and is essential for the regulation of appetite and energy balance. Neuropeptide Y, a 36 amino acid peptide and member of the PP-fold family, is a key hypothalamic neuropeptide involved in the regulation of energy balance, potently stimulating food intake following central administration. NPY is expressed in the arcuate nucleus (ARC) and NPYergic neurones project to multiple hypothalamic nuclei and extra-hypothalamic sit...

Introduction: Vasovagal syncope (VVS) is a transient loss of conscioussness due to hypoperfusion of the brain caused by vasodepressoric and/or cardioinhibitory reflex. In the pathogenesis, a dysregulation of autonomic nervous system is playing an important role. There is a growing evidence about more complex neurohumoral background of VVS. Neuropeptide Y (NPY) is hormone involved in the regulation of blood pressure with potent vasoconstriction effect. Moreover, NPY is also a c...

Objective: Euthyroid patients undergoing thyroidectomy were reported to gain weight than their matched counterparts. The etiology is still unknown. Serum adiponectin and leptin levels are related to fat mass and thyroid hormones. We aimed to evaluate the influence of thyroidectomy on body composition, serum adiponectin, leptin levels in euthyroid obese and non-obese patients who underwent total thyroidectomy for goiter.Methods: We conducted a prospective...

Introduction: Patients presenting with isodicentric chromosome Y (idicY) formation in a mosaic karyotype can present with phenotypic features ranging from mixed gonadal dysgenesis, to females with stigmata of Turner’s syndrome. The presence of the SRY gene increases the risk of germ-cell tumours.Case report: A 12-year-old prepubertal girl was referred for evaluation of extreme short stature (height 122 cm; −4.58 SDS; weight 26.7 kg; a...

IntroductionTurner syndrome (TS) is one of the most common types of aneuploidy; its etiology is associated with total or partial X-chromosome monosomy. In 5–12% of patients, mosaicism for a cell line with Y chromosome is identified. The presence of Y-chromosome increases the risk of gonadal tumors, especially gonadoblastoma and subsequent dysgerminoma. Here we report on the case of a girl with a rare 45X0/46XY mosaic TS exhibiting a primary amenorrh...

Introduction: Y-chromosomal azoospermia factor (AZF) microdeletions are one of the few well-established genetic causes of male infertility, specifically azoospermia or severe oligozoospermia. Since the introduction of a PCR-based method to easily detect the distinct deletion patterns, the screening of infertile men for Y microdeletions has become a very common genetic test performed frequently by a large number of laboratories. An external quality control scheme was establishe...

Objective: To examine if there was an association between blood pressure and two polymorphic markers, M9 (CtoG) and HindIII in the non-recombining region of the Y chromosome.Design and Methods: 204 pedigrees all including hypertensive individuals were collected from the south of Poland after local Ethical committee approval. Phenotypic data including hypertensive status as well as BP, weight and height were collected. We phenotyped and genotyped 155 unr...