Endocrine Abstracts

Context: Congenital hypogonadotropic hypogonadism (CHH), is a rare disorder associated with severe testosterone deficiency and with impaired bone mineral mass (BMM) acquisition and osteoporosis. Estradiol (E2) play a major role in bone development and maintain in BMM in humans.Objective: To evaluate in detail the degree of E2 deficiency in adult men with CHH.Design and patients: Using a sensitive E2...

Background: The Scottish Genital Anomaly Network (SGAN) is a national managed clinical network for patients with a suspected disorder of sex development (DSD). The SGAN register contains data on patients with DSD in Scotland. Factors that influence the decision to perform a karyotype in these patients are unclear.Objectives: To explore the SGAN register to study the factors that influence the decision to perform a karyotype.Methods...

Altered adipokine levels may explain the link between obesity and insulin resistance. One potential candidate is retinol binding protein 4 (RBP4) which is elevated in type 2 diabetes and correlates with the magnitude of insulin resistance. Low adiponectin levels are also associated with insulin resistance. Adiponectin circulates in multimeric complexes and multimer distribution may also be important.We measured RBP4 and adiponectin multimers in 24 obese ...

Objective: To determine the frequency of mutations of the gonadotropin-releasing hormone receptor (GnRHR) and of the G protein-coupled receptor 54 (GPR54) genes in normosmic idiopathic hypogonadotropic hypogonadism patients (IHH).Methods: In a retrospective study we analysed the GnRHR and the GPR54 genes of 327 IHH patients including 105 females (36.5%) and 183 males (63.5%). Among the index cases (288 siblings) 267 were sporadic form (92.7...

PTTG transforms cells in vitro, is tumourigenic in vivo and regulates secretion of fibroblast growth factor-2 (FGF-2). Critical to transactivation of FGF-2 is PTTG's SH3 interacting domain which encodes the gene's sole phosphorylation site. We explored the mechanisms through which PTTG stimulates FGF-2 expression and cell transformation using specific mutations resulting in unphosphorylated PTTG (phos-), a mimic of constitutive phosphorylation (phos+), and a disr...

Miscarriage is a very common occurrence in humans, in which blastocyst implantation failure in naturally-occurring and assisted human reproduction occurs in up to 2/3 of all cases. Calcium (Ca2+) has been showed to involve in many cellular signal transduction pathways as well as regulation of cell adhesion, which is necessary for the physiology process of endometrial epithelial cell transformation and stromal cell decidualization during embryo implantation. Previous...

IntroductionThe oral 11β-hydroxylase inhibitor, osilodrostat, normalized mean urinary free cortisol (mUFC) in 79% (15/19) of patients with Cushing’s disease at the end of the 22-week core LINC 2 study. Long-term efficacy and safety data following an optional extension phase are reported here.MethodsPatients with clinical benefit at week 22 could continue receiving osilodrostat during the extension; ...

Background: Telomerase reverse transcriptase (TERT) promoter mutation is a poor prognostic factor in differentiated thyroid carcinoma(DTC). It is thought to play a role in the transformation process to undifferentiated thyroid carcinoma(UTC), but its role as a prognostic factor in UTC is unclear. Therefore, in this study, we investigated whether the TERT promoter mutation acts as as an independent poor prognostic factor in UTC.Methods: Among patients dia...

Background: Active surveillance (AS) has been widely accepted as a safe option in the treatment of low risk papillary thyroid microcarcinoma (PTMC) in recent years on the basis that its prognosis is not inferior to immediate surgery. However, clinicians as well as patients are still hesitant in actually choosing AS over immediate OP as treatment. Our aim was to investigate the factors in choosing treatment options in low risk PTMC.Method: Seoul National ...

Background: PNPLA6 mutations are associated with complex autosomal recessive disorders including congenital hypogonadotropic hypogonadism (CHH): Gordon-Holmes syndrome, Boucher-Neuhauser syndrome and hereditary spastic paraplegia, which include ophthalmologic and neurologic disorders in addition to CHH. PNPLA6 gene encodes the neuropathy target esterase (NTE), an endoplasmic reticulum-associated enzyme intervening in the metabolism of membrane phospholipids.<...