Endocrine Abstracts

More than 90% of malignant testicular tumors arise in the germ cells and are denoted testicular germ cell tumors (TGCTs). TGCTs are one of the most common cancers among men between 15 to 40 years of age and arise from a common precursor cell, the germ cell neoplasia in situ (GCNIS), an arrested and transformed fetal gonocyte that become invasive after puberty. TGCTs are divided into seminomas and nonseminomas based on histology. Fortunately, TGTCs are highly sensitive to cispl...

Case history: We report a 38 year-old Caucasian woman with classical salt wasting congenital adrenal hyperplasia (CAH) who increasingly omitted medication in adolescence and eventually spent over 10 years without any adrenal replacement therapy or adrenal crises and became lost to follow up. When seen, she complained of increasing abdominal girth, fatigue, hirsutism, had type 2 diabetes, had never had a romantic/sexual relationship and was amenorrhoeic. Examination revealed ab...

Background: ACTH concentrations remain typically elevated in patients with Addison’s disease. We present a case of an extremely potent oral contraceptive pill (OCP) induced increase in total cortisol resulting in inhibition of ACTH secretion that was normalized on OCP withdrawal.Case Presentation: A 20-year old female was diagnosed with Addison’s disease [cortisol 1.59 µg/dl, ACTH>500 pg/ml (0-65)] and...

Deiodinases (Dio1-3) are selenium-dependent enzymes that catalyze the reductive removal of iodine from iodothyronines. Depending on the substrate and the position of the iodine removed, deiodination can generate T3 from T4 or inactivate T3 and T4. Local expression of Dio can help to adjust the intracellular levels of T3 to the physiological needs of the organ without changing circulating T3 concentrations. It has been suggested that hepatic Dio1 generates circulating T3. Howev...

Primary hyperparathyroidism (PHPT) is the third most common endocrine disorder and contributes to excess morbidity and mortality in the populations affected. In developed healthcare systems PHPT is routinely diagnosed at the asymptomatic stage. Parathyroidectomy is the only curative treatment. The latest guidelines specific to the surgical management of patients with asymptomatic PHPT have been developed by the Fourth International Workshop. This audit aimed to establish how m...

Gonadotropin-releasing hormone (GnRH) is the master hormone regulating the reproductive axis and its pulsatile secretion is crucial for puberty onset and fertility. Disruption in GnRH neuron development or hypothalamic function can lead to absent or delayed puberty (DP), with a phenotypic spectrum from severe DP to partial or complete Hypogonadotropic Hypogonadism (HH). We aimed to identify novel genetic etiology of severe DP by screening and identifying variants in associated...

Self-limited delayed puberty (SLDP) is characterized by an onset of puberty that is more than 2-2.5 standard deviations later than the population mean age and is often familial with strong genetic determinants. The reproductive axis is regulated by gonadotropin-releasing hormone (GnRH), which plays a crucial role in initiating puberty and maintaining fertility through its pulsatile secretion. Disruption in GnRH neuron development or hypothalamic function can lead to delayed pu...

Section 1: Case history: A 60-year-old woman was transferred to the receiving hospital after thrombolysis for a left-sided total anterior circulation stroke. Her past medical history was significant for alcohol dependence (70 units/week), atrial fibrillation (not anticoagulated but rate controlled with propranolol), seizures and severe mitral regurgitation. This lady underwent a successful thrombectomy, but subsequently developed haemorrhagic transformation and hydrocephalus. ...

Gonadotropin-releasing hormone (GnRH) is the master hormone regulating the reproductive axis and its pulsatile secretion is crucial for puberty onset and fertility. Disruption in GnRH neuron development or hypothalamic function can lead to absent or delayed puberty (DP) due to GnRH deficiency, with a phenotypic spectrum from severe delayed puberty to partial or complete Hypogonadotropic Hypogonadism (HH). HH can also be present as a shared trait with other neurodevelopmental d...

Background: Obstructive sleep apnoea (OSA) is characterised by recurrent upper airway obstruction during sleep resulting in abnormal ventilation and sleep patterns. Paediatric obesity is associated with a significantly increased OSA risk. Prompt recognition and management of OSA is important to reduce the risk of complications, including cardiovascular, growth, behavioural and glycaemic. We describe initial experiences of using the Paediatric Sleep Questionnai...