Endocrine Abstracts

Ghrelin is a brain-gut peptide originally identified in the stomach. It binds to and stimulates the growth hormone secretagogue receptor type 1a (GHS-R). The presence of ghrelin in hypothalamic tissue was studied. It has been previously established that neither the synthetic GHSs, nor the endogenous hormone ghrelin, is specific for GH stimulation: they generally also stimulate the HPA axis as well as prolactin release. Since there is no direct stimulatory effect on ACTH releas...

Background: Anecdotally patients with chronic pain on opioid analgesia have functional hypopituitarism, and studies in opioid addicts show suppressed pituitary function. We conducted a prospective observational study to determine the endocrine status of patients with chronic pain on opioid analgesia. Methods: 37 consecutive patients with chronic back pain attending the pain clinic were enrolled. 22 patients (age 45+/-9 years) were on long-term opioid analgesia and 15 (age 53 +...

Purpose: Non-Obstructive Azoospermia (NOA), occurring in approximately 1% of men, has an unknown etiology in the majority of cases. This study aims at evaluating the diagnostic efficiency of a gene panel contemplating all known genes associated with azoospermia in mice.Subjects and methods: Design of a ‘mouse azoospermia’ gene panel through the consultation of MGI; selection of 175 mouse azoospermia genes with human orthologues; selection of 31...

Background: The etiology of non-obstructive azoospermia (NOA) remains unknown in about 40% of cases and genetic factors are likely to be involved in a large proportion of them. Gene mutations involved in stem cell proliferation and DNA repair may cause isolated NOA or be responsible for syndromic diseases, such as Fanconi Anemia (FA). Although the most frequent presenting symptom in FA is bone marrow failure in childhood, in about 10% of cases the diagnosis is delayed until ad...

We previously demonstrated that USP12 functions as an AR co-activator by directly deubiquitinating the AR and stabilising its protein levels. Additionally, we showed that USP12 targets the PHLPP AKT phosphatases leading to decreased levels of activated, phosphorylated AKT (pAKT) and as such indirectly stabilises the AR preventing its phosphorylation at serine 213. We further investigated the role of USP12 in prostate cancer by analysing the transcriptome of the LNCaP prostate ...

Type 2 diabetes (T2DM) has emerged in youth, disproportionately affecting ethnic minorities. Maturity Onset Diabetes of the Young (MODY) has been reported in exclusively white UK children. We report the first UK Asian children with MODY, highlighting differences from T2DM.Child 1 is a slim (BMI SDS−0.14) female of Indian descent without acanthosis nigricans (AN). She presented aged 12 years with polydipsia and polyuria (HbA1c 8.6%). Hypoglycaemia w...

Background: The action of a steroid in any physiological process is dependent on the bioavailable (free) fraction. Direct measurements of free cortisol are expensive, labour intensive and require a significant volume of plasma and as a consequence are not feasible in the neonate. One alternative is to calculate free cortisol from the Cortisol Binding Capacity (CBC) and the total plasma cortisol. The aim of the present study was to develop an assay for the measurement of CBC in...

Introduction: Disorders of sexual development (DSDs) are estimated to occur in 1 in 4500 births. This potentially represents one baby born every other day in the UK. We aim to explore how Mersey foundation and paediatric trainees deal with newborn babies with possible DSD and identify if there is a need for further training in this subject.Methods: An online survey composed of 10 questions was distributed amongst foundation and paediatric trainees in Mer...

Introduction: Mixed gonadal dysgenesis (MGD) is a rare form of difference in sex development (DSD) characterised by mosaic karyotype of 45,X/46,XY and dysgenetic gonads. Gender dysphoria can be associated, the frequency of which is unknown. We describe 2 cases of MGD with gender dysphoria and the conundrum around pubertal induction.Case 1: An 8-year-old, reared as a girl, presented with longstanding concerns about appear...

There is limited research into the impact of active brown adipose tissue (aBAT) in patients with phaeochromocytomas and paragangliomas (PPGLs). A small body of evidence has shown that patients with PPGL patients can exhibit a high prevalence for aBAT recognized as ranging between 8 - 28% without specific correlation to germline mutations. Furthermore, it has been suggested that aBAT may be linked to increased mortality. Systematic searches of the Medical Literature Analysis an...