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...

Introduction: The early management of atypical genitalia has been highlighted as being of critical importance by the UK-DSD guidance in 2011.Objectives: To estimate the incidence of atypical genitalia requiring early specialist input in neonates and its clinical presentation and management.Method: Prospective audit through the Scottish DSD network and the Scottish Paediatric Endocrine Group, between June 2013 and June 2014. Monthly...

Short stature and osteoporosis are common in DMD. Glucocorticoids slow disease progression but are associated with further growth retardation and skeletal fragility. The muscular dystrophy x-linked (mdx) mouse is the most commonly used animal model of DMD. However, the phenotype is relatively mild and few medications that have shown therapeutic benefit in the mdx have translated clinically. The utrophin heterozygous mdx mice might be more appropriate...

Introduction: Mesenchymal stem cells (MSCs) are a type of multipotent cells readily found within the bone marrow, capable of undergoing self-renewal and giving rise to cells with different characteristics, such as, osteoblasts, adipocytes and chondrocytes. MSC differentiation requires optimal cell–matrix interaction and is also dependent on a number of growth factors.Aim: To investigate the effect of GH, Rho-associated kinase (ROCK) and extracellula...

Introduction: Dual energy X-ray absorptiometry (DXA) scans are regarded as the gold standard for assessing bone health. However, an inability to distinguish between cortical and trabecular bone as well as the use of inapproapriate size corrections mean that this technique is of limited clinical use in conditions affecting either bone microarchitecture or patient size. We have trialled the use of high resolution MRI (micro MRI) in the measurement of bone microarchitecture in pa...

Effective research into understanding the aetiology of disorders of sex development (DSDs), as well as long-term outcome of these rare conditions, requires multicentre collaboration often across national boundaries. The EU-funded EuroDSD programme (www.eurodsd.eu) is one such collaboration involving clinical centres and clinical and genetic experts. At the heart of the EuroDSD collaboration is a DSD register that supports the sharing of DSD ...

Background: The DHT RIA is often used in the assessment of children with suspected DSD. Affected cases have a history of consanguinity in ≤50% and many may not have a non-Caucasian background (Maimoun et al., JCEM, 2011). We aimed to assess the clinical utility of the DHT RIA in identifying cases of 5-ARD.Methods: All DHT requests in a 5 year period in a major UK tertiary paediatric centre were identified and case notes were retrieved and se...

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 ...