Endocrine Abstracts

Vitamin D-dependent rickets type-1 (VDDR1) is an autosomal recessive disorder characterised by onset of rickets by 2 years of age, accompanied by poor growth and hypotonia, muscle weakness, seizures, hypocalcaemia with secondary hyperparathyroidism, hypophosphataemia and normal plasma 25-hydroxyvitamin D (25(OH2)D) concentration that distinguishes VDDR1 from vitamin D deficient rickets. VDDR1 is caused by loss-of-function mutations of the 25-hydroxyvitamin D 1-alpha...

Background: Constitutional delay of growth and puberty (CDGP) is the commonest cause of delayed puberty in boys and differentiation of CDGP from other causes of delayed puberty can sometimes be challenging. We report a boy with delayed puberty due to a pituitary adenoma.Case: A 15-year-old boy was referred for endocrinology consultation with concerns regarding short stature and delayed puberty. There was no history or laboratory evidence suggestive of ch...

Introduction: We do not fully understand why some hypothyroid patients complain of persistent symptoms despite normalisation of TSH with levothyroxine therapy. Recent evidence in adults suggests that polymorphism in deiodinase2 enzyme could lead to lower level of T3 in some tissues and persistence of symptoms. A combination therapy with T3/T4 may improve symptoms especially psychological well-being, mood and memory in such patients. Combination...

Background: Patients with Cushing’s syndrome (CS) have a lot of complications due to chronic exposure of cortisol.Aim: To reveal specific changes of cardiovascular system in patients with CS.Material and methods: i) Six patients with CS (five females, one male, 47.1±1.5 years old), duration of CS 3.4±1.2 years, ii) 19 healthy patients (48.1±3.0 years old), and iii) ten patients with ischemic heart disease (IHD) ...

Neuroimmunoendocrine changes of the pineal and thymic function, are now believed to pay an important role in the mechanisms of age-associated diseases development. Here we studied the morphofunctional and signal molecules unity of pineal gland and thymus during ageing. Autopsic pineal gland and thymus material sampled from people was divided into groups 1 – middle-aged people (60–74 years) and 2 – old people (75–89 years). Ultra-thin slices were used for el...

Introduction: Childhood adrenocortical tumours (ACT) are extremely rare (world wide incidence: 0.3/million per year). Most affected are young girls – female:male 2:1, peak age at diagnosis – 3.5 years.Case report: A 2.5-year-old girl presented with a 4-month history of greasy hair, acne, and weight gain especially around face and upper shoulders. She had irritability, daytime lethargy, and night-time sleep disturbance. She later developed pubic...

Introduction: Childhood adrenocortical tumours (ACT) are extremely rare (worldwide incidence: 0.3/million per year). Most affected are young girls – female:male 2:1, peak age at diagnosis −3.5 years.Case report: A 2.5-year-old-girl presented with a 4-month history of greasy hair, acne, weight gain, especially around face and upper shoulders. She had irritability, daytime lethargy and night-time sleep disturbance. She later developed pubic hair...

Introduction: Thyrotroph adenomas are extremely rare accounting for only 0.5–2.8% of paediatric pituitary adenomas. Almost 90% of thyrotropinomas are macroadenomas.Case report: A 9-year-old boy presented with acute onset of a right divergent squint on a background of 6 months of visual disturbance. Opthalmological assessment confirmed reduced visual acuity and visual field defects.MRI revealed a large macroadenoma invading the...

Introduction: The aim of having an away day was to enhance relationships across three sites by improving the understanding of each other’s roles, their contributions and ways to provide mutual support. Also the intention was to establish parity through co-designing common practices of working effectively and developing quality improvement projects.Method: Staff members from three Paediatric Diabetes Teams within the same trust were invited to attend...

Hepatic encephalopathy (HE), a syndrome of neurological abnormalities caused by impaired liver function, is induced by many chronic liver diseases, such as liver failure or hepatic portosystemic shunts. Whilst multiple substances reach toxic levels in the systemic circulation of HE patients, hyperammonemia (excessive ammonia) is known to be a major contributing factor to the neurological disturbances. Astrocytes utilise ammonia in generating glutamine leading to brain oedema a...