Endocrine Abstracts

Case history: A 42-year old female was urgently referred to the endocrinology clinic. Symptomatology included worsening lethargy, polydipsia, poor appetite, postural dizziness and hypogalactia. Relevant background included the delivery of a healthy baby at term four weeks prior (Emergency caesarean section, 1000 ml blood loss documented). She had undergone an MRI at 39 weeks gestation following a 10-day history of persistent headaches with associated photophobia and dizziness ...

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterised by hypercalcaemia and inappropriately low renal calcium excretion. FHH can be classified into three types: FHH1, caused by calcium-sensing receptor (CaSR) loss-of-function mutations, accounting for >65% of cases; FHH2, due to loss-of-function mutations of the G-protein α11 subunit (Gα11); and FHH3, resulting from loss-of-function mutations in the adap...

Background: Vitamin D deficiency is a common feature of primary hyperparathyroidism (PHP). However, replacement of vitamin D is not routinely performed in clinical practice, due to concerns about its safety. Furthermore, it is not clear whether vitamin D deficiency worsens the biochemical derangements observed in patients with PHP.Aim: To determine the relationship between 25(OH) vitamin D status and biochemical markers in patients with PHP.<p class=...

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: 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...

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...

Introduction: Hypoactive sexual desire disorder (HSDD) is characterized by a persistent deficiency of sexual fantasies and desire for sexual activity, causing marked distress or interpersonal difficulty. It is the most prevalent female sexual health problem worldwide, affecting approximately 1 in 10 women, but has limited treatment options despite its substantial health, social, and economic burden. Melanocortin-4 receptor (MC4R) agonists have emerged as a promising therapy fo...

Introduction: Hypothalamic amenorrhoea (HA) is a condition characterised by reduced GnRH pulsatility and is a common cause of anovulatory subfertility. Kisspeptin is an endogenous neuropeptide that regulates hypothalamic GnRH function. Hypothalamic kisspeptin expression is reduced, and kisspeptin receptor expression is increased, in a rodent model of HA. The kisspeptin analogue MVT-602 has a 3-4-fold longer half-life than native kisspeptin-54 (t1/2 0.5 h). We invest...

Introduction: Peptide-YY (PYY) is produced by intestinal L-cells following nutrient ingestion. PYY analogues are an emerging class of anti-obesity medication. Peripheral administration of PYY has potent anorectic effects in rodents and humans. Interestingly, rodent studies have demonstrated that PYY has additional effects on reproductive hormone secretion depending on the model studied. In humans, hypogonadism occurs in up to 40% of men with obesity. Therefore, the effects of ...