Endocrine Abstracts

Background: Cardiovascular related deaths account for over 40% of the excess mortality in Turner Syndrome (TS). Hypertension, a modifiable risk factor for both aortic dilatation and dissection, is more commonly encountered in TS during childhood and adolescence. The objective of this systematic review and meta-analysis is to determine the prevalence of hypertension in paediatric patients with TS and in relation to the methodologies of blood pressure evaluation.<p class="ab...

Background: McCune Albright Syndrome (MAS) is a rare sporadic disorder, affecting 1 in 100,000 to 1 in 1,000,000 people worldwide, with female predilection. It is characterised by a classic triad of fibrous dysplasia (FD) + Café au lait spots (CALs) and precocious puberty. However, in non-classic cases, diagnosis can be made based on 2 or more characteristic features of CALs, FD and Endocrinopathy Mazabraud Syndrome (MS) on the other hand, is a combination of FD + Myxoma. In M...

Background: Increased hair cortisol concentrations are reported in Turner Syndrome (TS) patients compared to healthy controls (HC).(1) Increased cortisol exposure could contribute to cardiovascular, metabolic and bone morbidity in TS. Hair cortisol concentrations give no information about the circadian profile of cortisol, which is important for cardiovascular health. Cortisol is inactivated to cortisone by 11β hydroxysteroid dehydrogenase (11βHSD) type-2 and regener...

Background: McCune Albright Syndrome (MAS) is a rare mosaic disease caused by activating mutation in GNAS, characterized by bone fibrous dysplasia, café au- lait (CAL) and hyper functional endocrinopathies (1). GIPP is the most common endocrinologic manifestation seen more frequently in girls (2). In a few studies, letrozole, tamoxifen, or fulvestrant were effective in decreasing the rate of skeletal maturation and vaginal bleeding (3,4,5).Case Repo...

Objectives: Delayed puberty is thought to be common in boys with Duchenne muscular dystrophy [DMD]. To date, studies addressing its frequency are not available. This study aims to report the frequency of delayed puberty in DMD from clinical examination.Methods: All boys with DMD aged at least 14 years in January 2022 known to the Glasgow paediatric neuromuscular service (2015-2022) were included. Thirty-seven boys were identified. All 37 boys had at leas...

Background: Pseudo precocious puberty in young children usually arises from adrenal or less commonly testicular causes. Though rare, the possibility of an exogenous source should also be considered.Case Report: A 2 year 2 month old male child presented with apparent overgrowth since about 1 year of age. His height was 108 cms [+6.29 SDs], weight 21 kgs [+4.54 SDs] and head circumference 52.2 cms [2.76 SDs]. He looked very mature for his age but had no dy...