Endocrine Abstracts

Introduction: Excessive iodine intake can cause iodine overnutrition, goiter and other thyroid disease. This study is to probe the determinants of children’s iodine nutrition and their goitrous and nodular prevalence in areas with excessive iodine in drinking water in Hebei province of China. Methods Three townships were selected by simple random sampling among the 8 townships with median water iodine being 200–300 μg/l in Hengshui prefecture of Hebei province. ...

Background: Paragangliomas are rare neuroendocrine tumours arising in the autonomic nervous system, which can secrete excess catecholamines, causing cardiovascular complications. Malignancy occurs in up to 23% of paragangliomas, resulting in a poor prognosis with a 5-year mortality of 43–63%. There’s a limited evidence base for their treatment, with no official guidelines. Peptide Receptor Radionuclide Therapy (PRRT) is a proven treatment for neuroendocrine tumours o...

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...

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...