Searchable abstracts of presentations at key conferences in endocrinology

ea0094ens1.3 | Adrenal | SFEBES2023

I-CAH – a platform for data collection and network activities

Faisal Ahmed S.

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...

ea0036oc3.1 | Oral Communications 3 | BSPED2014

The Scottish audit of atypical genitalia: first year results

Jayasena Arundathi , Rodie Martina , Ahmed Faisal

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...

ea0051oc5.4 | Oral Communications 5 | BSPED2017

Characterisation of skeletal developmental in mouse models of Duchenne Muscular Dystrophy

Wood Claire , Wong Jarod , Straub Volker , Ahmed Faisal , Farquharson Colin

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...

ea0033p65 | (1) | BSPED2013

Modulation of mesenchymal stem cell differentiation by alterations in GH action and cell–matrix interaction

Wang Ruijun Jessie , Yarwood Stephen , Dalby Matthew , Ahmed Faisal

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...

ea0027oc2.2 | Oral Communications 2 (Quick Fire) | BSPED2011

The assessment of bone microarchitecture by high resolution magnetic resonance imaging (micro MRI) in young adults with childhood onset disease

Yacoubian Calum , McComb Christie , Leddy Christopher , Ahmed Faisal , Foster John

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...

ea0027p12 | (1) | BSPED2011

The European DSD register: a platform for International Collaborative Research

Rodie Martina , Sinnott Richard , Jiang Jipu , Ahmed Faisal

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 ( 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 ...

ea0027p13 | (1) | BSPED2011

The dihydrotestosterone assay for identifying 5α-reductase deficiency: a five-year audit from a UK tertiary Paediatric Centre

Martin Iain , Smee Natalie , Mcneilly Jane , Rodie Martina , Ahmed Faisal

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...

ea0078p4 | Adrenal | BSPED2021

Current management of acute adrenal insufficiency related adverse events in children- results of an international survey of specialist centres

Ali Salma , Bryce Jillian , Krone Nils , Claahsen-van der Grinten Hedi , Faisal Ahmed S.

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 &...

ea0086p175 | Adrenal and Cardiovascular | SFEBES2022

Neonatal salt wasting: A rare case of X-linked adrenal hypoplasia congenita

Frank Amy R , Longmuir Sophie , McNeilly Jane , McGowan Ruth , Faisal Ahmed S , Smith Karen

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...

ea0086p177 | Adrenal and Cardiovascular | SFEBES2022

A case of 17-alpha-hydroxylase deficiency congenital adrenal hyperplasia presenting with delayed puberty

Frank Amy R , Longmuir Sophie , McNeilly Jane , McGowan Ruth , Faisal Ahmed S , Smith Karen

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 ...