Searchable abstracts of presentations at key conferences in endocrinology

ea0025cm4.1 | Management of disorders of sex development (DSD) across the lifespan | SFEBES2011

The clinical spectrum of DSD

Hughes Ieuan

The variability in the manifestation of DSD covers a spectrum ranging from normal external female and male phenotypes to ambiguous genitalia. The latter scenario represents the sino qua non of DSD and poses a fundamental problem at birth – the inability to sex assign instantaneously. The typical newborn phenotype is represented by the ambiguity of a small penis/enlarged clitoris, labioscrotal folds, a single perineal orifice and gonads which may, or may not, be pal...

ea0078p34 | Gonadal, DSD and Reproduction | BSPED2021

Characteristics of 46,XY complete and partial gonadal dysgenesis- A pilot study

Tadokoro-Cuccaro Rieko , Hughes Ieuan , Thankamony Ajay

Gonadal dysgenesis (GD) is characterised by maldevelopment of the gonads and is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. The phenotype of PGD is variable and diagnosis is based on clinical and biochemical features, coupled with gonadal histology and genetic findings. “46,XY Gonadal Dysgenesis: diagnosis and long-term outcome” has recently been approved as an I-DSD Registry-based study. The aim is to characterise the ...

ea0033p51 | (1) | BSPED2013

NR5A1 Mutation – A Rare Cause of Pubertal Androgenisation

Amin Nadia , Balen Adam , Hughes Ieuan , Phillott Sally , Alvi Sabah

Introduction: Steroidogenic factor-1 (SF-1) is encoded by the NR5A1 gene on chromosome nine and is a nuclear receptor involved in adrenal and gonadal development and differentiation. There is wide phenotypic variation in individuals with NR5A1 mutations, but little is known about the natural course of patients during puberty. This study reports the case of a phenotypical female who showed profound virilisation at puberty due to a mutation in the NR5A1 gene.<p class="abstex...

ea0030p50 | (1) | BSPED2012

Adiponectin levels are inversely related to length in early infancy

Prentice Philippa , Ong Ken , Schoemaker Marieke , van Tol Eric , Acerini Carlo , Hughes Ieuan , Dunger David

Introduction: The adipokine adiponectin promotes insulin sensitivity and its circulating levels are inversely related to adiposity in adults and older children. In small for gestational age (SGA) infants adiponectin levels decline rapidly with age in early life and have been inversely associated with subsequent weight gain. There are few data in early infancy, especially in non-SGA infants.We therefore investigated the association between adiponectin lev...

ea0028p24 | Clinical biochemistry | SFEBES2012

Urine steroid profiling for diagnosis of 5α-reductase type 2 deficiency

West Charles , Vincent Royce , Moniz Caje , Chan Angel , Hughes Ieuan , Christakoudi Sofia , Taylor Norman

Background: 5α-Reductase type 2 deficiency (5ARD) is caused by mutations in the SRD5A2 gene. Inadequate masculinisation in XY individuals results from failure to convert testosterone (T) to dihydrotestosterone (DHT), a potent androgen. A decreased serum T:DHT ratio is frequently taken to identify 5ARD, but requires hCG stimulation for prepubertal patients; findings are not always supported by genotyping. Urine steroid profiling (USP) by GC-MS is established as showing sig...

ea0023p29 | (1) | BSPED2009

46, XY DSD: A case of clinical and biochemical conflict

Myers Aisling , Hughes Ieuan , Achermann John , Lynch Sally Ann , Roche Edna , Hoey Hilary

Introduction: We describe a case of 17- beta hydroxysteroid dehyrogenase Type III (17-βHSD3) deficiency in a girl from the travelling community. This case demonstrates how the clinical picture may not correlate with the biochemical results.Case: A 4.7 year old girl presented for elective hernia repair. Intraoperatively, what was felt to be a testis was palpated. Investigations revealed a 46, XY karyotype. Pelvic ultrasound demonstrated absence of mu...

ea0027p18 | (1) | BSPED2011

Novel KAL1 mutations associated with septo-optic dysplasia in three female patients

McCabe Mark , Gregory Louise , Hu Youli , Thankamony Ajay , Hughes Ieuan , Townshend Sharron , Bouloux Pierre-Marc , Dattani Mehul

Introduction: KAL1 is essential for GnRH neuronal migration and olfactory bulb development, and mutations within this gene have been implicated in 5% of Kallmann syndrome (KS) cases, a disorder characterized by the association of hypogonadotrophic hypogonadism with anosmia. It is the only identified X-linked form of the disorder and as a result only KS males had been screened for mutations until recently, when females exhibiting KS phenotypes were screened and subsequen...

ea0045p45 | Gonadal, DSD and reproduction | BSPED2016

5-alpha reductase deficiency: insights into the diagnosis and management of a rare condition

Monti Elena , Man Elim , Torpiano John , Rumsby Gill , Carmichael Polly , Storr Helen , Brain Caroline , Buchanan Charles , Conway Gerard , Spoudeas Helen , Mushtaq Imran , Hussain Khalid , Hughes Ieuan , Greening James , Achermann John , Dattani Mehul

Introduction: 5-alpha reductase deficiency (5aRD) is a rare cause of 46XY DSD, that affects sex development before birth and during puberty. The incidence is unknown; affected individuals have been described from all around the world, particularly in small communities or where consanguinity is common.Methods: A 20-year retrospective review of presenting features, biochemical data and genetic analysis of all patients presenting to a single multidisciplina...

ea0042oc4 | (1) | Androgens2016

The use of apolipoprotein D as a biomarker for androgen sensitivity identifies a new type of androgen insensitivity syndrome that is not associated with a mutation in the androgen receptor gene

Hornig Nadine C , Ukat Martine , Schweikert Hans-Udo , Hiort Olaf , Werner Ralf , Drop Stenvert LS , Cools Martine , Hughes Ieuan A , Audi Laura , Ahmed S Faisal , Demiri Jeta , Rodens Pascal , Worch Lisa , Wehner Gaby , Kulle Alexandra E , Dunstheimer Desiree , Muller-Roszberg Elke , Reinehr Thomas , Hadidi Ahmed T , Eckstein Anne K , van der Horst Christof , Seif Christoph , Siebert Reiner , Ammerpohl Ole , Holterhus Paul-Martin

Although androgen insensitivity syndrome (AIS) is commonly suspected as a cause of a 46,XY disorder of sex development (DSD), only about half of these cases can be attributed to an inactivating mutation within the coding sequence (CDS) of the androgen receptor (AR) gene. This led to the hypothesis that disrupted AR activation in AIS may also be caused by a defect in a co-factor of AR-activity. However, so far mutations in AR co-factors leading to AIS have not been ide...