Endocrine Abstracts

Introduction: Hypocalcaemia is rare in patients with malignancy, occurring in <2% of patients with malignancy. Osteoblastic bone metastases as an aetiology of hypocalcaemia are further rare.Case description: A 75-year-old male presented to emergency with back pain, and immobility. He was diagnosed to have prostate cancer in 2019. A bone scan in April 2022 showed extensive sclerotic metastases involving axial and prox...

Introduction: Kallmann syndrome (KS) is a rare genetic disorder typically due to defective migration of olfactory-axons and GnRH-neurons. KS results in congenital hypogonadotrophic hypogonadism (CHH) typically associated with absent (anosmia) or reduced (microsmia) sense of smell. Unilateral hypoplastic/absent olfactory bulbs on MRI are reported, although disturbance in smell is usually bilateral. Here, we present an unusual case of KS with unilateral anosmia....

Introduction: In response to the proposed move to decommission genitoplasty surgery for DSD, we investigated parental views on surgery for girls with virilising 46XX Congenital Adrenal Hyperplasia (CAH).Materials and Methods: In this prospective study, after ethical approval, parents of surgically treated CAH girls completed an electronic questionnaire.Results: 50 parents were cont...

Introduction: Timing of DSD surgery is debated. This study aimed to investigate outcomes of genitoplasty in CAH and assess patient’s opinion on surgery.Materials and methods: In this ethically approved prospective study, surgically treated CAH girls ≥16 years completed an electronic questionnaire.Results27 patients were contacted 13 completed questionnaires, 10 declined, 4 did not reply. Current median age 27 ...

Introduction: Kallmann syndrome (KS) is a rare condition characterised by congenital hypogonadotropic hypogonadism (CHH), usually due to defective migration of olfactory axons and GnRH-neurons. KS is typically associated with absent (anosmia) or reduced (microsmia) sense of smell. Unilaterally hypoplastic or absent olfactory bulbs on MRI are reported, although disturbance in smell is usually bilateral. Kisspeptin is a potent stimulator of hypothalamic GnRH-neurons, and endocri...

Background: Polycystic Ovary Syndrome (PCOS) and Functional Hypothalamic Amenorrhoea (FHA) are the two commonest causes of menstrual disturbance in pre-menopausal women. In practice, differentiating these two common reproductive disorders can be challenging. A fundamental abnormality that underpins both conditions is altered gonadotrophin releasing hormone (GnRH) pulsatility, being increased in PCOS but reduced in FHA. Likewise, congenital (e.g. congenital hypogonadotropic hyp...

Hypoactive sexual desire disorder (HSDD) is the most prevalent female sexual health complaint worldwide, affecting 1-in-10 women. It is characterised by a persistent lack of desire for sexual activity and sexual fantasies, causing distress or interpersonal difficulties. Treatment options are limited, however, melanocortin-4 receptor (MC4R) agonists have emerged as a promising therapy for HSDD, through unclear mechanisms. Investigating the pathways involved is crucial for our u...

Background: Kisspeptin is a critical activator of hypothalamic gonadotrophin-releasing hormone neurons, inducing release of downstream reproductive hormones. Intravenous or subcutaneous kisspeptin administration has been shown to have significant potential to treat reproductive disorders. However, intranasal administration could offer a novel non-invasive delivery route, which would be clinically preferable. We therefore sought to determine the effects of intranasal kisspeptin...

Introduction: Monitoring glucocorticoid (GC) replacement in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) remains challenging. There are disease-specific patterns in the plasma and urinary steroid profiles in 21OHD, a key role being played by the 11-oxygenatedC19 androgens. Aim: To explore the urinary steroid profile in 21OHD in relation to treatment and plasma steroids. Methods: Partic...

Background: At a preplanned interim analysis (median follow-up 6.2 months) of the double-blind, phase 3 COSMIC-311 trial (NCT03690388), cabozantinib significantly improved progression-free survival (PFS) vs placebo (HR 0.22, 96% CI 0.13-0.36; P<0.0001) in 187 patients with previously treated radioiodine-refractory DTC (Brose, Lancet Oncol; 2021). Patients must have received lenvatinib or sorafenib and progressed during or after 1-2 prior VEGFR inhibitors. We prese...