Endocrine Abstracts

Background: Previous studies evaluating the association between falling insulin requirements (FIR) during late pregnancy and adverse maternal and neonatal outcomes yielded controversial results.Methods: We conducted a retrospective cohort analysis of data collected from women delivering at Shamir Medical Center (a referral university-affiliated facility in central Israel), between 2008–2018. The percent of FIR was calculated by dividing the remaind...

Introduction: In children undergoing investigation of testicular function the relationship between serum anti-Müllerian hormone (AMH) and the testosterone response to hCG stimulation test (HST) is unclear.Methods: 71 children (three females and 68 males) with a median age of 1.08 years (range: 0.003, 14.3) were investigated for suspected DSD by AMH on D1 and testosterone on D1 and D4, before and after 3-day HST. Of these children, 27 had an addition...

To date, the in depth analysis of the key molecular mechanisms involved in functional autonomy and tumor formation in aldosterone producing adenomas has been hampered by the rarity of the disease and the lack of adequate tumor cell lines. Herein, we cultivated a primary cell culture of an aldosterone producing adenoma taken from a 40 year old male patient with a left sided adrenal tumor mass. The cells have been passaged 24 times and still continue to grow after nearly 11 mont...

Radioactive and transgenic tracing experiments indicate that in the adult adrenal stem cells persist in the periphery of the cortex, which migrate centripetally and populate the inner cortical zones upon differentiation. However, investigation of these cells has been hampered by the lack of known marker genes. Vital Hoechst dye exclusion has been described as a method for isolating a side population (SP) from mouse bone marrow, which was enriched with stem cells. Utilizing thi...

20alpha-hydroxysteroid dehydrogenase (20αHSD) has been initially characterized as a progesterone metabolizing enzyme of the ovary mandatory for the final reduction of progesterone blood levels before parturition. As the exact zonal distribution and regulation of adrenal 20αHSD has not been defined, adrenal 20αHSD expression and activity was determined by western blotting, immunohistochemistry and enzymatic assays in wild type BALB/c mice of both genders at diffe...

Background: GH insensitivity (GHI) presents with growth failure, IGF-1 deficiency and normal/elevated GH (basal >5 μg/l and/or peak >10 μg/l). GHI encompasses a spectrum of clinical and biochemical abnormalities. Associations between phenotypic characteristics and genetic defects remain obscure.Objective: Identify phenotypic predictors of underlying genetic defects in GHI.Methods: In total of 102 children (62M) me...

Background: Endogenous Cushing’s syndrome (CS) in children remains a challenge to diagnose and exclude. 24-h urinary free cortisol (UFC) measurements are a convenient, non-invasive test for paediatric patients.Objective: To assess the screening accuracy of 24-h UFC measurements in paediatric patients referred to our centre for evaluation of possible CS.Methods: A retrospective review of children referred to our centre between ...

Objectives: Patients with homozygous 6Ψ mutations have GH insensitivity (GHI). We previously described spectrum of clinical and biochemical phenotypes of 11 6Ψ patients (David et al. JCEM 2007;92:655) and now report 9 additional patients. Response to rhIGF-I therapy has not previously been assessed.Methods: 20 6Ψ patients (12 M, 11 families, mean age 4.0±2.2 year) were diagnosed genetically in our centre. Continuous ...

Corticotrope cells give arise to utmost aggressive and to very rare pituitary neoplasias, including pituitary carcinomas, Crooke’s cell adenomas (CCA), clinically non-functioning silent corticotrope adenomas (SCA) and the Cushing-provoking pituitary adenomas (CD). The molecular etiopathogenesis of these tumors are still poorly understood. Therefore, we carried out whole exome sequencing to better understand the full genomic landscape single nucleotide variants and copy nu...

Objectives: Noonan Syndrome (NS) is an autosomal dominant multi-system disorder characterised by short stature (SS), distinctive facial features and cardiovascular abnormalities. Mutations in multiple genes regulating the RAS-MAPK pathway have been identified in NS including 5 recently described novel LZTR1 variants. We identified 2 novel LZTR1 variants in patients with features of growth hormone insensitivity and NS. The molecular function of LZTR1 ...