Endocrine Abstracts

The commonest cause of acquired hypopituitarism is a benign pituitary adenoma. However, in patients with non-pituitary malignancy different diagnoses need to be considered. We describe three oncology patients presenting with hypopituitarism and/or a pituitary mass where the cause was related either to malignant disease or its treatment.Case 1: A 56-year-old man with known metastatic melanoma presented with increasing lethargy. Investigation showed a larg...

Background: The use of radioactive iodine treatment (RAI) for the definitive treatment of benign hyperthyroid disorders has been well established. This study was conducted to determine the factors predicting the development of hypothyroidism following RAI therapy.Methods: All patients (n=104, 25 men, 79 women) who had RAI for hyperthyroidism between January 2008 and December 2009 were included. In 82.6% of patients antithyroid medications were u...

Introduction: Noonan syndrome (NS) (OMIM 163950) is an autosomal dominant clinically heterogeneous disorder characterised by multisystem involvement. Mutations in genes in the RAS/MAP signaling pathways are known to be responsible for ~70% of cases of NS. We report an infant with NS with early onset fragility fractures.Case report: A 15-month-old male infant with a history of atopic eczema, sparse hair on the scalp, slow motor development, feeding diffic...

Background and aims: Estimating puberty using Tanner stages is usually done unconfidently by general paediatricians. Self-assessment methods are not reliable. As assessment of growth on the new UK growth charts necessitates establishing pubertal status, we have designed and evaluated a simpler non-invasive approach.Methods: The new system has three Phases– Pre-Puberty (Tanner stage 1), In-Puberty (stages 2/3) and Completing-Puberty (stages 4/5)....

An increased number of medium-sized antral follicles is one of the characteristic features of polycystic ovaries (PCO) but little is known of the preantral stages of follicle development. The aim of this work was to explore small preantral follicle development in ovulatory and anovulatory PCO and to compare it with that in normal ovaries. Small ovarian cortical biopsies were obtained with informed consent and local ethics committee approval from 27 women with PCO, 13 anovulato...

Background: Measuring testicular volume (TV) by orchidometer is a standard method of pubertal staging in boys. A paucity of evidence exists as to its inter and intra-user reliability and the impact of clinicians’ gender, training and experience on the accuracy of measurements. Specifically engineered prosthetic models of different size testes were developed to investigate the reliability of TV estimation.Method: The study was conducted over the thre...

Background: Severe obesity in childhood is associated with significant morbidity including systolic hypertension, fatty liver, obstructive sleep apnoea, dyslipidemia and type 2 diabetes. Evidence that even small changes in BMI SDS bring about significant clinical benefit is strong.Objectives: To assess the impact of weight loss associated with intragastric balloon therapy supported by a life style programme on biomedical outcomes (glucose metabolism, blo...

Introduction: Perrault syndrome (PS), a rare autosomal recessive condition mostly reported in females, is characterized by sensorineural hearing loss (SNHL), ovarian dysgenesis manifesting as primary amenorrhoea (PA), premature ovarian insufficiency (POI) and neurological manifestations but little is known about testicular function in males.Case summary: A 34 year-old man was referred with progressively reduced libido, e...

Efficacy of rhGH for treatment of pediatric GH deficiency (PGHD) may depend on several variables at treatment initiation (age, body weight, height velocity (HV), IGF-I SDS, skeletal maturation, GHmax), but may be compromised by poor adherence to required daily injections. Somavaratan is a novel, long-acting rhGH fusion protein that demonstrated clinically meaningful improvements in HV and IGF-I concentration in PGHD patients. Over 200 pre-pubertal GHD subjects have enrolled in...

Background: Transition is an important stage in the care of a young person with a long term endocrine condition.Objective: To explore current services for young people (YP) with endocrine conditions from the perspective of paediatric and adult endocrinologists, and YP and their parents using their services.Methods: There were two components: i) service questionnaire for completion by paediatric and adult endocrinologists. ii) &#145...