Searchable abstracts of presentations at key conferences in endocrinology

ea0029p33 | Adrenal cortex | ICEECE2012

Applicability of the guideline for the diagnosis of primary hyperaldosteronism in patients with hypertension in Japan (PHAS-J2): Prospective multi-center study of national hospital organization

Naruse M. , Miyazaki Y. , Tanaka T. , Shimizu M. , Otani S. , Hata S. , Ogo A. , Yonezawa K. , Yoshida K. , Sawamura M. , Araki R. , Tanabe M. , Tsuiki M. , Suzuki T. , Shimbo T.

Primary aldosteronism (PA) is the most major cause of secondary hypertension, with its prevalence ranging from 3 to 20% of the hypertensive patients. Although guideline for diagnosis of PA has been established by the Endocrine Society, details of its applicability remain to be elucidated. In this study, we investigated the applicability of each step of the guideline in hypertensive patients by the multi-center collaborative study of National Hospital Organization (NHO) in Japa...

ea0029s46.1 | Chronic inflammation and insulin resistance | ICEECE2012

AIMing at metabolic syndrome: towards development of novel therapies for modern metabolic diseases via macrophage-derived AIM

Miyazaki T.

Metabolic syndrome is a cascade of metabolic diseases starting with obesity and progressing to atherosclerosis and is often fatal because of serious cardiovascular problems such as heart/brain infarction and hemorrhage. Accumulating evidence has revealed a critical involvement of inflammatory responses triggered by lesional macrophages in its pathogenesis. Importantly, we found that macrophages are associated with the progression of these diseases not only in the induction of ...

ea0006s4 | (1) | SFE2003

Y Are Men The Weaker Sex?

Charchar F

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...

ea0099ep977 | Reproductive and Developmental Endocrinology | ECE2024

Genetics of the y chromosome in male infertility

Frikha Hamdi , Dhieb Nesrine , Maalej Souhir , Boujelben Khouloud , Ben Salah Dhoha , Haj Kacem Akid Faten , Mnif Fatma , Charfi Nadia , Mnif Mouna , Elleuch Mouna , Abid Mohamed , Rekik Majdoub Nabila

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...

ea0021p136 | Diabetes and metabolism | SFEBES2009

A novel role for neuropeptide Y in the regulation of energy homeostasis

Leavy Emma , Gardiner James , Buckley Niki , Richardson Errol , Martin Niamh , Bloom Stephen , Smith Kirsty

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...

ea0081p528 | Adrenal and Cardiovascular Endocrinology | ECE2022

The role of neuropeptide Y in the pathogenesis of vasovagal syncope

Lazurova Zora , Lazurova Ivica , Mitro Peter , Popovnakova Marcela

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...

ea0036oc2.2 | Oral Communications 2 | BSPED2014

Isodicentric chromosome Y mosaicism in a female patient: an indication for gonadectomy

Gopal-Kothandapani Jaya Sujatha , Dimitri Paul

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...

ea0073aep615 | Reproductive and Developmental Endocrinology | ECE2021

Y chromosome in Turner syndrome: preventive management Case report and review of the literature

El Miski Fatiha , Hanafi Asmaa , Boufettal Houssine , Mahdaoui Sakher , Samouh Naima

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...

ea0029p1051 | Male Reproduction | ICEECE2012

Ten years of EAA/EMQN quality control scheme for microdeletions of the Y chromosome

Tuttelmann F. , Hoefsloot L. , Patton S. , Simoni M. , Krausz C.

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...

ea0003p160 | Genetics | BES2002

Independent Y chromosome markers associated with blood pressure and testosterone levels

Charchar F , Tomaszewski M , Padmanabhan S , Lacka B , Anderson N , Zukowska-Szczechowska E , Grzeszczak W , Dominiczak A

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...