Endocrine Abstracts

Introduction: Prader Willi syndrome (PWS) is a complex neurodevelopmental genetic condition which is characterised by hyperphagia, endocrine dysfunction, behavioural and psychiatric issues. Current literature recommends a multi-disciplinary approach to PWS management to tackle its multi-faceted manifestations. No previous study has examined the views and satisfaction levels relating to the services provided for children with PWS in Wales.Methods: Semi-st...

Introduction: Primary Osteoma Cutis is associated with Albrights Hereditary osteodystrophy (AHO) due to inactivating GNAS mutation. It is inherited in an autosomal dominant or sporadic manner. Phenotype in GNAS mutation is varied due to parent specific gene expression. Maternally inherited GNAS mutation leads to hormone resistance, but paternally inherited mutation leads to AHO features without hormone resistance. Medulloblastoma is the most common m...

Introduction The endocrine assessment of children with Duchenne muscular dystrophy (DMD) can be necessary for management of osteoporosis, delayed puberty, obesity, adrenal insufficiency, and short stature. With ongoing implementation of the international standards of care for DMD, referrals to our Metabolic Bone Clinic (MBC) increased beyond its capacity, impacting patient care. The neuromuscular and endocrine departments implemented a new referral pathway and Multidis...

In 2019, we attended a patient engagement zoom session, hosted by Turner Syndrome Support Society (TSSS), to launch a video illustrating the use of a transdermal patch for pubertal induction in girls with Turner Syndrome (TS). Several girls raised to us that they felt that they did not have a good understanding of puberty, and on why it was important to receive both oestrogen and progesterone preparations during pubertal induction. To target this, we developed an explanatory v...

Introduction: Underlying causes of short stature are difficult to establish and many patients with short stature do not have a clear diagnosis. Careful examination and investigation of patients with short stature may identify additional features that help to make a diagnosis or direct genetic testing. Here we describe a patient with severe short stature with additional features on examination and skeletal survey in keeping with KBG syndrome. In addition, the patient developed ...

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive condition due to mutation in the autoimmune regulator (AIRE) gene which leads to a variable phenotype with endocrine and nonendocrine multisystem involvement. We present a challenging case of APECED with auto immune hepatitis, mineralocorticoid deficiency and short stature.Case history: A 8-year-old girl born to consanguineous parents, presente...

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED), is a rare autosomal recessive cause of polyendocrinopathy. Mutations in the AIRE (Autoimmune regulator) gene results in failure of T cell tolerance. APECED occurs in about 1 in 90,000 to 1 in 200,000 people but is more prevalent in certain groups (Iranian Jews, Sardinians, and Finns). Its presentation depends on the gene mutation. The classic triad of symptoms are chronic mucocutaneous candidiasis, hypopa...