Endocrine Abstracts

A 37-years-old man was referred to rheumatology with a 3 month history of widespread joint pains, worse on rising in the mornings with early morning stiffness lasting about 15 min. Hands were affected first followed by knees and hips. On further questioning, he also complained of generalised fatigue, loss of libido and thinning of the hair on his chest, as well as 15 kg weight loss over 6 months. He recalled a febrile illness with headache prior to the onset of his symptoms, b...

Background: There is considerable evidence to support a role for the GH/IGF-I axis in the development of breast cancer. We have previously demonstrated that IGF-I is expressed in both normal and malignant breast tissue, but that approximately 10% of primary breast cancers reveal no IGF-I mRNA expression. However the molecular differences between IGF-I positive and IGF-I negative tumours is unknown.Aims: To investigate the molecular differences between IG...

Introduction: Transcriptome analysis of peripheral blood mononuclear cells (PBMC) RNA has identified a set of androgen-responsive non-coding RNAs.Aim: To quantify the androgen-responsive gene expression and investigate its relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity. Methods: Boys with suspected DSD who were evaluated at the Royal Hospital for Childr...

It is paramount that any adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional team. In most cases, a named endocrinologist within the regional DSD team acts as the first point of contact. The underlying pathophysiology of DSD and the strengths and weaknesses of the tests that can be per...

Fragility fractures in the young individual are an uncommon clinical scenario and when faced with such a situation, appropriate assessment is required to ensure correct diagnosis of the underlying aetiology and to avoid unnecessary interventions. Although, primary causes of osteoporosis such as osteogenesis imperfecta are considered rare, this group of conditions has considerable phenotypic and genotypic heterogeneity and may be underdiagnosed. However, the majority of the you...

Following the roll-out of the I-DSD Registry in the 2000s, there was a consensus view that there was a need for a registry for congenital adrenal hyperplasia (CAH) and this was launched in 2014 as a dedicated module within the original registry. There are approximately 150 centres from 50 countries that are currently using the I-DSD/I-CAH/I-TS family of registries and between them there are almost 3,000 cases of CAH that have now been entered. In addition to supporting and pro...

Introduction: Although a number of studies have reported on the External Masculinisation Score (EMS) and have validated its use for numerical descriptions of the external genitalia, the methodology in these studies has not considered longitudinal changes in EMS.Objectives: To examine longitudinal changes in EMS in boys with XY Disorders of Sex Development (DSD) and determine the causes of these changes.Methods: All boys of confirme...

Background: Bone densitometry by DXA is now considered routine part of clinical management of children at risk of osteoporosis. Data on activity of a paediatric DXA service would be helpful for service planning but are currently lacking.Aim: A survey of referrals to the service and size-adjusted total body (TB) and lumbar spine (LS) bone mineral content for bone-area standard deviation scores (BMC for BA SDS) were obtained from the local database.<p ...

Aim - To assess the effect of transdermal testosterone (TT) on free testosterone concentrations in saliva and on short-term growth and bone turnover in boys with growth or pubertal delay.Method - Prospective, randomized, cross-over study over 26 weeks with 4 weeks of Run-In, 8 weeks of Treatment I (8 hours/12 hours), 4 weeks of Wash-Out, 8 weeks of Treatment II (8 hours/12 hours) and 4 weeks of final Wash-Out.Main Outcome Measures ...

Background: In 2007, the Turner syndrome (TS) consensus study group developed an international guideline for clinical care of girls and women with TS. Given emerging concerns of long term cardiovascular complications, the consensus recommends that cardiac MRI should be performed when girls are old enough to tolerate the procedure or at the time of transition and to be repeated at least every 5–10 years.Method: We conducted a survey ...