Endocrine Abstracts

A 33-year-old Belgian woman was referred in June 2006 to our Metabolic Bone Diseases Clinic for recent vertebral fractures. X-Rays showed a 3-level severe compression fractures with collapse of the superior endplates of D11, D12 and L1. DXA showed significantly decreased lumbar spine (LS) and femoral neck (FN) Z-scores, at −3.1 and −2.5, respectively.She was complaining of severe back pain, muscle weakness, cognitive dysfunction, anxiety and ...

Introduction: MEN-1 is a rare autosomal dominant familial cancer syndrome characterized by involvement of parathyroid glands, enteropancreatic endocrine tissues and anterior pituitary gland. This disease is linked to germline mutations in the MEN1 gene (more than 460 described), whose identification allows the familial genetic counselling. Here we describe a novel germinal mutation in exon 10 of the MEN1 gene identified in an Italian family.Case Report: ...

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...

A 17 year old girl was referred to us from the gynaecology department with history of primary amenorrhea. She was otherwise well and previous medical history included severe acne requiring referral to ENT, plastic surgery and dermatology services at age 13 and hirsutism for which she had privately funded laser treatment. On examination she had acanthosis nigricans and BMI of 22 but was virilised with clitoromegaly, hypertrophied labia majora and hirsuitism. Pelvic ultrasound r...

Primary empty sella (PES) is a frequent radiological entity in general population. The herniation of sub arachnoid space in the sella turcica can induce various visual and/or endocrine disorders. In this work we want to study first symptoms leading to diagnosis, clinical and paraclinical aspects of 36 adults with PES. Diagnosis of PES is made by TDM and/or IRM after exclusion of secondary empty sella. In this study empty sella is considered as complete in 51.5% cases and parti...

RFamides are a family of peptides containing arginine-phenylalanine-amide at their C terminus. A novel 43-amino acid RFamide, named QRFP43, and a shorter endogenous peptide 26RFa, were discovered and identified as ligands of the G protein-coupled receptor GPR103. Different studies have shown that RFamides, such as neuropeptide FF and QRFP43 and 26RFa, play a role in food intake, thermogenesis and energy homeostasis. Here, we investigated the effects of QRFP peptides on surviva...

Atypical parathyroid adenomas represent a subset of tumors with histological features worrisome for carcinoma (PC), such as trabecular growth, fibrous bands and increased mitotic activity without unequivocal criteria of malignancy (local recurrence and/or metastasis). The question of whether these lesions might represent an anticipation of an aggressive clinical behavior that overtime may acquire the full blown features of malignancy remains to be established.<p class="abs...

Continuous administration of 400 μg/day of letrozole (LET), a non-steroidal inhibitor of P450 aromatase, with start pre-pubertally to female rats, induces hyperandrogenemia and reproductive abnormalities similar to those observed in women with polycystic ovary syndrome (PCOS). However, these rats do not develop metabolic abnormalities, despite high circulating testosterone. A possible explanation may be that the dose was too high and thus completely inhibited the estrogen...

Introduction and objectives: Testicular cancer survivors (TCS) are at a putative risk to develop premature testosterone deficiency (TD). The clinical and biochemical components of TD and the metabolic syndrome have not been thoroughly described in such patients.Material and methods: Prospective clinical trial: 163 TCS took part in the study, clinical parameters, sex hormones and biochemical values were assessed in fasting blood samples, MS was defined ac...

Introduction: Inactivating mutations in LH or FSH receptors (R) are known causes of gonadotrophins resistance.Aim: This study aims at evaluating the presence of mutations and polymorphisms of FSHR and LHR and sperm quality in men with hypergonadotropic hypogonadism without obvious testicular noxa.Patients and methods: We selected 8 males with elevated levels of FSH and/or LH and normal levels of testosterone. Sperm parameters were ...