When discordant insulin and C-peptide levels lead to a medical diagnosis in a patient with transient hypoglycemia: Varying degrees of interference of insulin-antibody complexes on three insulin immunoassays.

Background: Determining the cause of hypoglycemia partly relies on blood insulin and C-peptide assays. Although the pancreatic secretion of these peptides is equimolar, discrepancies in their concentrations may occur.

Case Presentation: We report the case of a 73-year-old woman with type 2 diabetes mellitus (T2DM) and a history of gastric bypass.

Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic (SF-1) frameshift variant: p.(Phe70Ser*5).

Background: Steroidogenic factor 1 (SF-1), encoded by the nuclear receptor subfamily 5 group A member 1 () gene, is a transcriptional factor crucial for adrenal and gonadal organogenesis. Pathogenic variants of are responsible for a wide spectrum of phenotypes with autosomal dominant inheritance including disorders of sex development and oligospermia-azoospermia in 46,XY adults. Preservation of fertility remains challenging in these patients.

Steroid Profiling in the Amniotic Fluid: Reference Range for 12 Steroids and Interest in 21-Hydroxylase Deficiency.

Context: Determination of steroid levels in the amniotic fluid gives some insight on fetal adrenal and gonadal functions.

Objective: Our objectives were to establish reference ranges of 12 steroid levels throughout pregnancy and to compare them with steroid levels from pregnancies with fetuses presenting with 21-hydroxylase deficiency (21OHD).

Methods: Liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) was applied to 145 "control" amniotic fluid samples from gynecology activity (12 + 6 to 32 + 4 gestational weeks, GW).

Sex hormone binding globulin: The importance of establishing sex-based reference values.

Objectives: Assay of sex hormone binding globulin (SHBG), the main carrier protein for sexual steroids, is prescribed mainly by endocrinologists and performed in specialized laboratories. This study aimed to evaluate the analytic performance of an automated immunochemiluminescent assay (ImmunoDiagnostic Systems (IDS), Boldon, United Kingdom) compared to a manual radioimmunoassay (Cisbio Bioassays, Codolet, France). It further aimed to assess the suitability of the reference values proposed by IDS.

Activity of Exebacase (CF-301) against Biofilms Formed by Staphylococcus epidermidis Strains Isolated from Prosthetic Joint Infections.

Staphylococcus epidermidis is one of the main pathogens responsible for bone and joint infections, especially those involving prosthetic materials, due to its ability to form biofilms. In these cases, biofilm formation, combined with increased antimicrobial resistance, often results in therapeutic failures. In this context, the development of innovative therapies active against S.

Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of () Pathogenic Variants.

Background: pathogenic variants can cause congenital adrenal hypoplasia or primary adrenal insufficiency in early childhood usually associated with hypogonadotropic hypogonadism. is necessary for organogenesis of the adrenal cortex and to maintain normal spermatogenesis. In humans, restoration of fertility in patients carrying pathogenic variants is challenging.

Anti-ZnT8 autoantibodies: A new marker to be screened in patients with anti-adrenal antibodies.

Patients with autoimmune Addison's disease (AAD) can develop other autoimmune diseases. They often display autoantibodies other than anti-adrenal cortex autoantibodies (ACA) which could be of interest in predicting the development of other diseases such as type 1 diabetes (T1D). Among the well-established autoantibodies associated with T1D, anti-ZnT8 autoantibodies (ZnT8A) could be found in absence of anti-GADA and anti-IA2A.

Description of 22 new alpha-1 antitrypsin genetic variants.

Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated with lung and/or liver injury. The laboratory testing for this deficiency typically comprises serum alpha-1 antitrypsin quantification, phenotyping according to the isoelectric focusing pattern and genotyping if necessary.