Endocrine Abstracts

Background and aims: Thyroid disorders (TDs) are frequent in women of reproductive age, with a major influence on both female reproductive function and fetal development. During pregnancy, TDs associate a high risk of miscarriages, premature birth or neonatal morbidity. Our study aimed to assess both TDs prevalence in pregnant women and the need to adjust the necessary treatment during pregnancies complicated with TDs.Patients and method: This is a retro...

Premature ovarian insufficiency (POI) is a disorder which affects ~1% of women under 40 years of age. Genetic component has been suggested in the majority of cases of nonsyndromic forms, and recently mutations of NR5A1 have been reported to be associated with POI. In order to evaluate the frequency of NR5A1 mutations in POI together with the functional characterisation of the existing variants, we conducted a genetic study on a large cohort of POI patients.<p class=...

Glycoregulation disorders in endocrine are frequently, hormone excess or deficit resulting for impaired metabolism of glucose by different mechanisms.Methods: The study was conducted on 118 patients with hyperthyroidism, acromegaly and hypercortisolism. The inclusion criteria were: patients nondiagnostics that have not followed the treatment with drugs that could induce hyperglycemia (epinephrine, oral contraceptives, glucocorticoids, mineralcorticoids e...

Introduction: TAC3/TACR3 mutations have been reported in normosmic congenital hypogonadotropic hypogonadism (nCHH). In the absence of animal models, studies of human neuroendocrine phenotypes associated with neurokinin B and NK3R receptor dysfunction can help to decipher the pathophysiology of this signaling pathway. Our objective was to characterize novel TACR3 mutations and to analyze neuroendocrine profiles in nCHH patients with TAC3/TACR3 biallelic mut...

Background and aims: Ovarian reserve screening is considered to play a key role in the prediction of quantitative and qualitative aspects in assisted reproductive technologies (ART). The ovarian reserve markers currently used include the serum levels of FSH, oestadiol, inhibin B, anti-Müllerian hormone (AMH) as well as ultrasound antral follicular counts (AFC). Despite controversial results, most of the existing studies suggest that, compared to other markers of the ovari...

We present the case of a 36-year-old female with a focal neonatal hyperinsulinism diagnosed at birth in a context of hypoglycemia that was resistant to Diazoxide treatment. A subtotal pancreatectomy was performed and histology showed a focal hyperinsulinism. The mutation of ABCC8 was not searched at this point. The patient developed an insulin dependent diabetes at the age of 9 and required an insulin pump. In 2017 the patient was planning a pregnancy so she consulted a geneti...