Endocrine Abstracts

Kallmann’s syndrome (KS) is proposed to result from disrupted migration of both olfactory sensory axons and hypothalamic gonadotrophin-releasing hormone (GnRH1) neurons during embryogenesis. KAL1 (encoding anosmin-1) and KAL2 (encoding the fibroblast growth factor receptor 1, FGFR1) are responsible for approximately 20% of KS cases, and in an ex vivo system it has been reported that anosmin-1 enhances FGFR1 signalling in a ligand (FGF)- and heparan su...

Pituitary surgery frequently leads to one or more anterior pituitary hormone deficiencies but the incidence of GH deficiency is unclear. The aim of our study was to establish the incidence of GH deficiency in patients post hypophysectomy. Current NICE guidelines recommend GH replacement in severely GH deficient patients who have one or more other pituitary hormone deficiencies and diminished QoL by AGHDA.Thirty-five patients (M:F 15:20; age range 23&#150...

Introduction: 5 Alpha reductase deficiency (5-ARD) is a rare autosomal recessive disorder causing disturbance of sex development. 5 Alpha reductase is an enzyme involved in steroid metabolism, catalyzing testosterone into dihydrotestosterone (DHT), its potent form. 5-ARD therefore results in lower DHT and higher testosterone values. DHT is crucial for the differentiation of the urogenital sinus and genital tubercle into the external genitalia, urethra and prostate, while the v...

Background: Since pelvic gender-affirming surgery (GAS) is no longer required for legal gender change, we expect a growing number of transgender men and gender nonbinary people who refrain from pelvic surgery. Little is known about the effects of long-term testosterone use on the reproductive organs. Polycystic ovaries and endometrial changes have been described in previous histology-based studies. Furthermore, cervical cancer screening (CCS) is still recommen...

Treatment with a single annual infusion of zoledronic acid 5 mg (ZOL) for 3 years has been shown to be effective in increasing bone mineral density (BMD) and decreasing fractures. In order to investigate the long-term effects of ZOL, we performed a 3-year extension of the HORIZON-PFT to 6 years. A total of 1233 women who received ZOL for 3 years in the core study were randomly allocated to 3 additional years of ZOL (Z6, n=616) or blinded placebo (Z3P3, n=617). Pr...

Pseudoacromegaly or acromegaloidism is used to describe cases where acromegaly-related physical appearance can be observed without any abnormality in the growth hormone (GH) axis. Acromegalic features, in particular coarse facies, together with hypertrichosis, are typical manifestations of one of the pseudoacromegaly conditions: hypertrichosis acromegaloid facial features (HAFF) syndrome. This condition phenotypically overlaps with Cantu syndrome and acromegaloid facial appear...

Pseudoacromegaly or acromegaloidism is used to describe cases where acromegaly-related physical appearance can be observed without any abnormality in the growth hormone (GH) axis. Acromegalic features, in particular coarse facies, together with hypertrichosis, are typical manifestations of one of the pseudoacromegaly conditions: hypertrichosis acromegaloid facial features (HAFF) syndrome. This condition phenotypically overlaps with Cantu syndrome and acromegaloid facial appear...

Introduction: Lutetium-177 Oxodotreotide (Lutathera) is a targeted molecular radiotherapy treatment for advanced, inoperable, progressive neuro-endocrine tumours. We present our experience of Lutathera therapy with particular focus on our experience implementing treatment as a day-case procedure, and assessment of adherence to treatment quality standards surrounding the administration.Aims: To assess safety of Lutathera as a day-case treatment.<p cla...

Background: Anti-Müllerian Hormone (AMH) and Antral Follicle Count (AFC) are both principally used as markers of ovarian reserve and available in all UK hospitals. The utility of these markers in the binary diagnosis of Polycystic Ovarian Syndrome (PCOS) by published criteria, such as Rotterdam, has been previously reported. We evaluated their utility in the evaluation of oligo/amenorrhoea in healthy young non-obese women.Methods: Women with both ov...

Background: Studies in adults have shown physiological protection of a ‘set-point’ for weight, explaining why obese adults who diet eventually regain weight.Objective: We hypothesised that set-points for weight, and their physiological defence, are flexible in childhood but become fixed around puberty. We aimed to show that obese children who lost weight had less ‘reflex’ changes in satiety hormone profiles (that would drive weight re...