Endocrine Abstracts

Background: Chromogranin A (CGA) and 5-HIAA are meaningful biomarkers in managing neuroendocrine tumors (NETs). CGA, though nonspecific, can reflect disease bulk and typically decreases after debulking surgery. 5-HIAA is specific to NETs though its measurement may require a special diet, a 24-hour urine collection, or specialized blood collection tubes; but usually decreases after debulking procedures. Serotonin, though useful in diagnosing NETs, is not followed as a biomarker...

Background and Purpose: Infertility affects 15% of couples globally, and only few treatment options are available. Gonadotropins are classic and potent regulators of ovarian and female reproductive function, but novel endocrine crosstalk appears to exist between gonads and the skeleton that may influence female fertility. One of the new players include the RANKL signalling system, which consists of the receptor activator of nuclear factor κβ ligand (RANKL), the recep...

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 ...

White adipose tissue (WAT) is a dynamic and heterogeneous organ composed of different cell types involved in a wide array of biological processes. We know that women with polycystic ovary syndrome (PCOS) suffer from insulin resistance and type 2 diabetes which is associated with pathological white adipose tissue (WAT) function and expansion characterized by hypertrophic adipocytes, altered production and release of lipids and adipokines, and chronic low-grade tissue inflammati...

Case History: A 61-year-old Caucasian female from Ukraine presented with severe hypercalcaemia following routine blood tests performed by the GP. She reported symptoms of back pain and joint pains. She had renal stones 10 years prior. No history of thiazide or lithium use. No red flags; no change in appetite or weight loss. There was no familial history of Multiple Endocrine Neoplasia (MEN). Examination of her neck, cardiorespiratory, abdomen and breasts were normal. <p cl...

SYNGR3 is involved in the re-uptake of dopamine (DA) into striatal pre-synaptic terminals. Here we elucidate the genetic control of human SYNGR3 gene (SYNGR3).Methods and Intermediate Results: Step 1 Potential cis-acting in 2kb upstream of the transcription initiation site (TIS) of SYNGR3 were investigated using the MatInspector algorithm. Three potential Nurr1 binding sites were identified. Step 2 PCR amplification (human DNA as templa...

Background: Congenital isolated ACTH deficiency (IAD) is a rare condition characterised by low plasma ACTH and serum cortisol with normal production of other pituitary hormones. TBX19 is a T-box pituitary restricted transcription factor important for POMC gene transcription and terminal differentiation of POMC-expressing cells. TBX19 gene mutations have been shown to cause neonatal-onset congenital IAD. To date 25 mutations in TBX19 have been described, five ...

Objective: The purpose of this study was to describe the outcome after initiation of exenatide therapy and to determine whether the impact of adverse drug reactions on compliance was affected by gender.Methods: A retrospective study was performed of 18 diabetic patients (eight males) that were prescribed exenatide between June 2013 and September 2014. Each included patient received exenatide for ≥1 month. Age, disease course, race, BMI, medical his...

Objective: To investigate the impact of lifestyle intervention on elevated thyroid peroxidase (TPO) antibody levels in outpatients with normal thyroid function.Methods: A retrospective cohort study was performed to observe and evaluate euthyroid patients with excessive TPO antibodies that presented to the authors’ hospital between March 2013 and October 2014 for routine medical examinations. The subjects were randomly divided into the lifestyle inte...

Aberrant pseudoexon inclusion is rarely recognised as a cause of human disease. Here we report two novel, compound heterozygous mutations in nicotinamide nucleotide transhydrogenase (NNT), one of which activates a pseudoexon, as the cause of familial glucocorticoid deficiency in two siblings. Whole-exome sequencing identified a single novel, heterozygous variant (R71X) in both affected individuals. Follow-up cDNA analysis identified the pseudoexon inclusion (p.P998_D9...