Endocrine Abstracts

Background: Primary hyperparathyroidism (PHPT) is a common endocrine disorder. Aim of this audit was to assess clinical, biochemical parameters, localisation modalities and outcome in patients undergoing parathyroidectomy at University College London Hospital (UCLH).Methods: We audited all patients aged 15-years or above, undergoing parathyroidectomy, from 01-02-2018 to 31-12-2021 at UCLH via retrospective data collectio...

Background: Pancreatic neuroendocrine neoplasms (panNENs) are heterogeneous, with grade (G) defined by Ki67 proliferation index (<3% G1, 3-20% G2, >20% G3) or mitotic rate. The G3 NEN subgroup is further divided into well differentiated neuroendocrine tumors (NETs) and poorly differentiated neuroendocrine carcinomas (NEC). Grade progression can occur over time, with low-to-high grade progression (L-to-H; G1/2 to G3) the most clinically relevant form. It is associated w...

ARMC5 is a tumor suppressor gene responsible for 20 to 40% of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) with a function that remains unclear. Based on pathway analysis from RNAseq results obtained on zebrafish models of transient Armc5 up- and down-regulation, we identified transcriptional alterations of several members of SIRT1 (sirtuin (silent mating type information regulation 2 homolog) 1) signaling in our models and hypothesized that ARM...

Background: Cushing’s syndrome (CS) is a rare but very severe condition with high morbidity and mortality. Patients are often diagnosed late in the course of the disease, many years after onset of symptoms. New approaches like extended screening of at risk populations, alternative biomarkers and clinical scores have been developed to improve diagnostic accuracy. However, there is still a debate, whether certain patient populations should be screened for CS outside the fra...

Simultaneous knockout of the neuroendocrine marker genes Ptprn and Ptprn2, which encode the protein tyrosine phosphatase receptors N and N2, respectively, causes infertility of female mice while males are fertile. To clarify the mechanism of sex-specific roles of Ptprn and Ptprn2 in mice reproduction, we analyzed the effects of their double knockout (DKO) on the hypothalamic-pituitary-gonadal axis. In DKO females, a delay in puberty and lack...

Estradiol (E2) plays an essential role in woman fertility. E2, locally produced by granulosa cells (GCs) of ovarian antral follicles, controls follicular development and selection, and triggers the gonadotropin surge that leads to ovulation. Dysovulation arising from the arrest of antral follicle growth and maturation occurs in up to 10 % of reproductive-aged women suffering polycystic ovary syndrome (PCOS). Although the diagnostic criteria for PCOS are clearly established, th...

Introduction: The hypothalamic-pituitary-gonadal (HPG) axis is regulated by pulsatile GnRH secretion and its action on the anterior pituitary, leading to the synthesis and secretion of LH and FSH. KNDy neurons, expressing kisspeptin, neurokinin B and dynorphin A, are the GnRH/lH pulse generator and are key regulators of puberty and fertility. The HPG axis is active during prenatal and early postnatal life in humans and rodents, but then remains quiescent until puberty in both ...

Background: Cyclic Cushing’s syndrome (cCS) is a sub-entity of Cushing’s syndrome (CS) associated with diagnostic and therapeutic challenges. It describes a condition, in which phases of clear-cut biochemical hypercortisolism are followed by spontaneous troughs of normal or subnormal cortisol secretion. We conducted the first systematic literature review to identify common features of cCS.Methods: We searched MEDLINE (via PubMed) for eligible s...

Introduction: Germline inactivating ARMC5 (Armadillo repeat containing 5) mutations are responsible for Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH). ARMC5 presents the characteristics of a tumor suppressor gene. Mutations are observed in more than 85% of patients with a clear familial presentation and 20 to 25% of apparently sporadic cases. Genetic alterations are spread all over ARMC5 coding sequence and more than two-third of them ar...

Objective: Primary aldosteronism (PA) is the first cause of endocrine hypertension accounting for about 6% of all cases of hypertension. According to international guidelines, PA screening is based on plasma aldosterone-to-renin concentration ratio (ARR) computation. Nevertheless, measurement of urine aldosterone excretion may be of interest since it integrates aldosterone secretion over 24 hours. However, available urine aldosterone immuno-assays have poor specificity.<p ...