Endocrine Abstracts

Activation of the hypothalamo-pituitary-gonadal axis, from the third trimester of pregnancy to the first post-natal months in males, results in serum concentrations of gonadotrophins and testosterone approaching adult levels. This phase, known as male mini-puberty, represents a key window of opportunity to identify congenital GnRH deficiency in early childhood.We present a case to illustrate the diagnostic efficiency of screening for mini-puberty in a ma...

Turner’s syndrome (TS) results from a genetic abnormality in phenotypical female individuals where the second X chromosome is either absent or present in a mosaic form. The most obvious consequences are short stature and primary amenorrhoea, although there are often dysmorphic features as well as cardiovascular and genitourinary complications. 90% of TS patients experience primary amenorrhoea with subsequent infertility. Spontaneous recovery of ovarian function in patient...

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder (1:4′000-10′000) characterized by absent puberty and infertility. There is striking gender discordance (3–4 males for each female case) thus women with CHH are the “rarest of the rare”. Unlike many orphan conditions, treatments are available and hormonal therapies are effective for inducing puberty and fertility. However, the presumable availability of treatment does not ne...

Introduction: Turner Syndrome (TS) is associated with a higher overall morbidity and mortality than the general population, with respiratory diseases as one of the major causes. Haemophilus influenza type B (HiB) and pneumococcal (PC) vaccination can reduce morbidity and mortality, by alleviating the risk of respiratory diseases. All patients in the Newcastle Adult Turner Syndrome clinic who lack immunity to either HiB or PC at baseline receive vaccination in our TS clinic. Ho...

Introduction: Vitamin D deficiency occurs more frequently in patients with primary hyperparathyroidism compared to general population, and is usually associated with an aggravated form of the disease. Current guidelines recommend measurement of vitamin D level in all patients with primary hyperparathyroidism, and their repletion if the levels are <50 nmol/l.Case report: We present a 56 years old Caucasian lady who underwent right parathyroidectomy &#...

Background: For chronic diseases, adherence to treatment remains a major clinical challenge. For men with long-term hypogonadism, there is scant data regarding adherence to treatment. Congenital hypogonadotropic hypogonadism (CHH) is a rare, genetic, endocrine disorder characterized by incomplete/absent puberty and infertility. Little is known about adherence in this patient population or the psychosocial implications of living with this rare disorder. Therefore, we aimed to e...

Background: TSH secreting pituitary adenomas represent small proportion of functional pituitary tumours presenting as hyperthyroidism with elevated thyroid hormone levels and inappropriately normal or increased TSH concentration. They are ≥1 cm in size and quite aggressive with tendency to relapse following transphenoidal adenomectomy (TSA). Surgical resection remains gold standard in their definitive treatment while pharmacotherapy with long-acting somatostatin analogue...

A 34-year-old male with two decades of gender identity issues considered gender reassignment and attended pre-orchidectomy sperm-banking when he was found to be azoospermic. He described a history of difficulty learning to play the piano and of deep-vein thrombosis at 19 years. He was 187 cm tall with a span of 189.7 cm, and exhibited L-sided undescended testis, R testis 1.8×2.5×3.7 cm, bilateral prominent gynaecomastia, a female body habitus, micropenis, bimanual sy...

Male hypogonadism is characterised by sexual dysfunction, loss of muscle bulk, central obesity, fatigue, mood and sleep disturbances, osteoporosis and anaemia. Although these features are associated with low serum testosterone concentration, not all men with a low serum testosterone are definitively hypogonadal, and there is a large symptom overlap with obesity and non-endocrine illness. Importantly, testosterone replacement therapy may not be appropriate for men with mild, fu...

Background: Vitamin D deficiency (VDD) has been implicated in the pathophysiology of respiratory infections, including Coronavirus Disease 2019 (COVID-19). We assessed vitamin D levels of patients who died from COVID-19 during or following admission to Newcastle-upon-Tyne Hospitals.Methods: We performed a retrospective survey of electronic patient records for 2,355 patients admitted to our institution between 04/02/2020 and 19/01/2021, who had a positive...