Endocrine Abstracts

Introduction: The presentation is based on experiences and opinions of CAH patients represented by German AGS parents and patient initiatives.Meaning of patient and family perspectives: The aim is to provide an overview about wishes and expectations of German CAH patients. A special view will be given to quality of live and influencing factors of treatment.Examples of family perspectives: The importance and meaning of patient and f...

The FSHR is characterised by a large number of SNPs (1636 listed in the NCBI SNP database), mostly located in intronic regions and of unknown heterozygosity rate. Some SNPs, especially those which are nonsynonymous and located in exons have been studied in association with gonadal function.The SNPs at nt position 919 and 2039 in exon 10 are very common (heterozygosity: 0.469) and result in the aminoacid transition Thr/Ala at codon 307 and Asn/Ser ...

Background: The immortalised human granulosa cell line (hGL5) is not responding to gonadotropins, which fail to activate the cAMP/PKA/CREB pathway, progesterone production, cell rounding and apoptosis, suggesting that FSH- and LH/hCG-receptors (FSHR; LHCGR) are downregulated.Aim: To investigate whether the mechanism of FSHR/LHCGR downregulation is associated with life/death signals in hGL5 cells.Methods: We evaluated the FSHR/LHCGR...

Introduction: PCOS is a common endocrine disorder in women exhibiting characteristics ranging from hyperandrogenic to metabolic phenotypes, more prevalent in people of African/Caucasian and Asian ancestry, respectively. Since PCOS impairs fertility without diminishing in prevalence, it was discussed as an evolutionary paradox. GWAS identified 17 SNPs with different allele frequencies, depending on ethnicity, in various susceptibility loci (FSHR, LHCGR, DENND1A, THADA, C9OR...

Background & aims: it is now known that the benefits due to weight loss are therefore attenuated by the recovery of body weight. Two therapeutic options facilitate the maintenance of weight loss at a distance: very low caloric ketogenic diet (VLCKD) and medications; the recent literature also shows how much the recovery of weight loss is significantly lower in subjects treated with medications for obesity than in them who have taken a VLCKD or low calorie diet. The aim of ...

Introduction: Human chorionic gonadotropin (hCG) is a glycoprotein hormone composed by two subunits, an alpha subunit common to all gonadotropins and a specific beta subunit. hCG is produced by trophoblast cells as differently glycosylated isoforms with a wide range of molecular weight, from 30 to 50 KDa (‘regular’ hCG is 37 KDa). hCG is used in the treatment of infertility. The aim of this study is to analyse and compare the composition of different commercial hCG.<...

Introduction: Septo-optic dysplasia (SOD) is characterized by a combination of midline forebrain, pituitary and eye abnormalities. We aimed to evaluate the clinical, neuroradiological and endocrine features of patients with SOD and multiple pituitary hormone deficiencies (MPHD).Design: Retrospective data were collected from 76 patients with SOD and 26 with MPHD, followed at a single centre. SOD patients were divided into two groups: i) with pituitary hor...

Background: Conventional parameters evaluated in semen analysis show several limits in the diagnostic setting of male infertility and do not provide any useful prognostic tool for assisted reproductive technique (ART). On the contrary, the assessment of sperm DNA fragmentation (sDF) was proposed to discriminate fertile from infertile men and to predict the follicle stimulating hormone (FSH) treatment response in infertile men. However, a comprehensive evaluation thereof is not...

Objective: The pathogenesis of pituitary tumours is still incompletely understood. Somatotropinomas occur both sporadically and in the context of familial syndromes, such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and isolated familial somatotropinoma (IFS). Recently, germline mutations were reported in AIP (aryl hydrocarbon receptor interacting protein) gene in Finish and Italian families and in Finish patients with apparently sporadic pituitar...

Cyclic Cushing’s disease is a rare situation due to episodic hypersecretion of ACTH. Suspicion is raised when strong clinical stigmata occur, with normal basal values of cortisol and normal responses to dynamic tests. After performing several tests, particularly during phases without symptoms (well-being), the probability of successful diagnosis increases.We describe the case of a 33 years old female patient with full-blown clinical picture (weight ...