Endocrine Abstracts

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...

Background: There is wide variation in the reported rate of acute adrenal insufficiency (AI) related adverse events (sick day episodes and adrenal crises) between centres.Objective: Evaluate the level of consensus on the criteria that should be considered ‘essential’ for defining and managing adverse events associated with acute AI in children.Methods: Active users of the International Congenital Adrenal Hyperplasia &...

Neonatal salt wasting can present in neonates with a life-threatening state of hyponatraemia, hyperkalaemia, dehydration and metabolic acidosis. The differential diagnosis of neonatal salt wasting includes congenital adrenal hyperplasia (CAH) most commonly due to 21-hydroxylase deficiency, pseudohypoaldosteronism (PHA), X-linked adrenal hypoplasia congenital (AHC) and aldosterone synthase defects. Diagnostic work up should include serum measurement of ACTH, Cortisol, 17OH-prog...

A 13 year old female presented with a two day history of abdominal pain and vomiting which responded to analgesia. Pelvic ultrasound showed complex ovarian cysts and a pre-pubertal uterus. Initial blood tests were consistent with hypergonadotrophic hypogonadism (LH 31.5 U/l, FSH 14.3 U/l and oestradiol <70 pmol/l) and karyotype was 46 XX. Bone age was slightly delayed (measured 12.4 years, chronological age 13.7 years). On referral to paediatric endocrinology, the patient ...

Introduction: Bisphosphonate therapy (BPT) reduces osteoclast activity and may be associated with adynamic bone turnover. The extent of suppression of bone turnover and its determinants are unclear.Methods: Markers of bone metabolism were evaluated in 15 children (9M/6F) receiving cyclical BPT intravenously for osteoporosis. The median age at first biochemical assessment was 10.8 years (0.16, 16.3). Serum type I collagen cross-linked C-telopeptide (CTX),...

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 Childre...

Background: Congenital adrenal hyperplasia (CAH) is a rare condition that is associated with life long risk of adrenal crisis. Management of CAH demands a fine balance between excess glucocorticoid leading to adverse effects and too little glucocorticoid risking adrenal crises. Frequent occurrence of sick day episodes warrants dose adjustment and education regarding adrenal crisis. In a condition such as CAH it is difficult to collect sufficient data from small cohorts at a si...

Introduction: There is some variation in the practice of gonadectomy for individuals with Differences of Sex Development (DSD) worldwide. This quality improvement project aims to undertake continued surveillance of the occurrence of gonadectomy in suspected or confirmed cases of DSD.Methods: Participating centres from the International-DSD Registry are sent a monthly email asking if a gonadectomy has been performed. A se...

Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.Objective: To determine the extent of engagement in registries of Endo-ERN members.Methods: Endo-ERN RC le...

Introduction: Cardiovascular disease is the commonest cause of death (absolute-excess-risk:41%) in Turner Syndrome (TS). Hypertension is a major risk for circulatory-disease (up to 60%) and a key modifiable-risk factor of aortopathy, ischemic heart disease and stroke in TS. There is no current consensus for hypertension diagnosis/management in TS.Methods: Retrospective multi-centre observational study of patients aged &#...