Endocrine Abstracts

Congenital Hypothyroidism (CH) is the most common congenital endocrine disease and avoidable cause of severe mental retardation. The CH pathogenesis may include the contribution of genetic and environmental factors. However, causal mutations have been found in a minority of cases. Moreover, the elevated frequency of discordance for CH phenotype between monozygotic (MZ) twins suggests the involvement of non-Mendelian mechanisms. Aim of this study was to investigate the role of ...

Background: Many questions concerning polycystic ovary syndrome (PCOS) remain unsolved, such as the long term evolution of cardiovascular (CV) risk markers and the risk for CV events.Methods: A total of 119 PCOS patients diagnosed in 2009 by NIH criteria at our Unit were evaluated at baseline for cardiovascular risk markers (hypertension, diabetes mellitus-DM, dyslipidaemia, obesity, carotid intima media thickness-cIMT, and epicardial fat thickness-EFT) ...

Background: In a previous study, we retrospectively analysed a group of patients with high insulin growth factor 1 (IGF1) but normal growth hormone (GH) suppression, identifying among them a subgroup of “micromegalic” patients presenting with clinical features of acromegaly and high rate of comorbidities. We therefore expanded our cohort of patients, extended the follow-up time and collected preliminary data on treatment response aiming to better characterize this co...

Background and aim: Ovarian hyperandrogenism is a known cause of post-menopausal hirsutism and virilisation, more frequently of a benign nature (e.g. ovarian hyperthecosis, Leydig cell hyperplasia). Bilateral salpingo-oophorectomy delivers both definitive diagnostic and therapeutic results. However, after excluding the presence of a suspicious ovarian mass, the use of GnRH analogues (GnRH-a) offers a valuable therapeutic alternative with cases reporting a sustained response in...

Burosumab, monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We explored the effects of this treatment in a clinical setting, considering biochemistry, growth, deformity, functionality, quality of life, pain and fatigue.Methods: Clinical, biochemical, radiological and questionnaire data were reviewed at 6 and 12 months(m) for 8 children with XLH starting burosuma...

Background: Postprandial hypoglycemia is an increasingly recognized complication after bariatric surgery. Its hallmark is a pronounced glycemic rise after carbohydrate ingestion followed by an exaggerated hyperinsulinemic response. Recent studies have shown that IL-1β contributes to postprandial stimulation of insulin. Furthermore, inhibition of SGLT2 reduces excessive plasma glucose increase. Therefore, we investigated whether inhibition of IL-1β with the IL-1 recep...

Introduction: The adrenal morphology in congenital adrenal hyperplasia (CAH) is poorly described in the literature, so that adrenal radiological evaluation is not recommended in patients with CAH. The aim of this study was to evaluate the adrenal morphology in a large cohort of adult patients with CAH due to 21-hydroxylase deficiency and its correlation with the subtype of CAH (non-classical-NCAH, simple virilizing-SV, or salt wasting-SW), the hormonal status and the treatment...

Objective: The aim of this study was to define which hormonal cut-off values can discriminate polycystic ovary syndrome (PCOS) from non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-NCAH).Patients and methods: We included 70 women in reproductive age who attended our Unit from 2003 to 2018 for a diagnosis of PCOS with a basal 17hydroxyprogesterone (17OHP) level in the follicular phase of the menstrual cycle ≥200 ng/d...

Abstract: Congenital hypogonadotropic hypogonadism (CHH) is characterized by isolated GnRH deficiency in the absence of central anatomical causes. Classically considered to be a permanent disorder, CHH reversal has been reported in up to 15% of cases. However, reversal may not always be life-long, as hypogonadism relapse can occur in a subset of patients. Criteria for reversal normalization of circulating sex steroids, and spontaneous fertility. We report a 26-yrs-old man, who...

Background: Aberrations in the timing of puberty may result in significant adverse health outcomes, including cancers, cardiovascular and neurological pathologies. Self-limited delayed puberty (DP) (i.e. constitutional delay of puberty) runs in families with either autosomal dominant or complex inheritance patterns in >70% of families, indicating a strong genetic basis of the trait. However, only a few genes have been identified underlying DP so far....