hrp0084fc11.3 | Neuroendocrinology | ESPE2015

Next Generation Sequencing: Towards a new Clinical Frontier in the Diagnosis and Management of Pituitary Tumours

McCabe Mark , Cowley Mark , Tao Jiang , Dias Kerith-Rae , Thompson Tanya , Dinger Marcel , McCormack Ann

Background: In the past few years, new genes involved with familial predisposition to pituitary tumour development have been recognised, including AIP and SDHx. These factors are likely to underestimate the occurrence of familial pituitary tumour predisposition, commonly thought to account for 5% of all pituitary tumours. Furthermore, the clinical management of aggressive pituitary tumours is challenging, particularly when tumours exhibit resistance to standa...

hrp0095fc5.2 | Adrenals and HPA Axis | ESPE2022

Thioredoxin Reductase 2 (TXNRD2) Variant As A Cause Of Micropenis, Undescended Testis And Selective Glucocorticoid Deficiency

Patjamontri Supitcha , Lucas-Herald Angela , McMillan Martin , Prasad Rathi , Metherell Louise , McGowan Ruth , Tobias Edward , Faisal Ahmed S.

Introduction: The molecular aetiology of familial glucocorticoid deficiency (FGD) is very heterogeneous. A recent report of a genetic variant in TXNRD2, the gene encoding thioredoxin reductase Type 2, in a South Asian kindred with FGD suggests that the maintenance of redox balance may be critical for adrenocortical function. We present the second report of an individual from another south Asian family harbouring a different pathological variant in <em...

hrp0095p1-370 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

An Investigation Of Androgen-responsive Non-coding RNAs In Boys With Atypical Genitalia Without Genetic Variants in the Androgen Receptor (AR)

Alimussina Malika , McMillan Martin , Chudleigh Sandra , D McNeilly Jane , A Diver Louise , McGowan Ruth , S Tobias Edward , Faisal Ahmed S

Introduction: Recent studies point to the existence of androgen-responsive non-coding (nc) RNAs in peripheral blood mononuclear cells (PBMC) RNA.Aim: To quantify the androgen-responsive gene expression of SNORD5 and RNY5 and investigate their relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: 19 bo...

hrp0092p1-49 | Fat, Metabolism and Obesity | ESPE2019

Gut Microbiome of North-American Children with and without Prader-Willi Syndrome (PWS)

Afhami Shima , Tun Hein , Peng Ye , Liang Suisha , Deehan Edward , Madsen Karen , Gantz Marie , Triador Lucila , Walter Jens , Haqq Andrea

Introduction: Prader-Willi Syndrome (PWS), a common syndromic form of childhood obesity, is characterized by failure-to-thrive during infancy followed by progressive hyperphagia and obesity in childhood. The pathogenesis of hyperphagia and weight-gain in PWS is poorly understood and management strategies have had variable and limited success. Several studies support an etiological contribution of dysbiotic gut microbiota in the metabolic derangements of obesit...

hrp0089p1-p233 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Phenotypic and Genetic Assessment of Boys with a Suspected XY Disorder of Sex Development

Alimussina Malika , Diver Louise A , McNeilly Jane D , Lucas-Herald Angela K , Tobias Edward S , McGowan Ruth , Faisal Ahmed Syed

Introduction: Among Disorders of Sex Development (DSDs), XY DSD, represents the most challenging group in terms of identifying a diagnosis.Objectives: The aim of the study was to determine the prevalence of biochemical and molecular genetic tests in a cohort of boys with XY DSD and to collate the phenotypes of patients with results of laboratory investigations and presence of associated abnormalities.Methods: New and existing cases...

hrp0089p2-p005 | Adrenals and HPA Axis P2 | ESPE2018

Perioperative Care of CAH – Incongruencies of Practices among Canadian Specialists

Nour Munier , Gill Hardave , Mondal Prosanta , Inman Mark , Urmson Kristine

Introduction: In pediatric years, the most common cause of primary adrenal insufficiency is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Current Endocrine Society guidelines advocate for the use of perioperative supraphysiologic (often referred to as ‘stress dose’) glucocorticoids for children with primary adrenal insufficiency undergoing general anesthesia or surgery. We perceived a difference in practice patterns amongst pediatric subspeci...

hrp0089p3-p356 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Paediatric Doctors’ Experience and Knowledge of the Initial Management of Neonatal Ambiguous Genitalia

McGlacken-Byrne Sinead , Byrne Kathryn , O'Rahelly Mark , Ryan Ethel

Introduction: Neonatal ambiguous genitalia can herald sensitive, time-critical, and life-threatening diagnoses and thus paediatric doctors must be competent in their management. However, ambiguous genitalia are rare, limiting clinical exposure. We assessed paediatric doctors’ experience of, knowledge of, and confidence in managing this condition.Methods: A questionnaire was circulated to paediatric doctors at two tertiary and four secondary level pa...

hrp0082p2-d1-518 | Pituitary | ESPE2014

Goliath, a Variant of DAVID Syndrome?

Hasselmann Caroline , Samuels Mark E , Van Vliet Guy

Background: DAVID syndrome (deficit in anterior pituitary function and variable immune deficiency) (J Clin Endocrinol Metab 97 E121, 2012) can be caused by NFKB2 mutations (Am J Hum Genet 93 13, 2013). All patients have an orthotopic posterior pituitary (PP) and most only ACTH deficiency.Objective and Hypothesis: To describe a girl with common variable immunodeficiency (CVID), ectopic PP (EPP) ...

hrp0084p1-35 | Diabetes | ESPE2015

Effect of 6 Months Therapy with Metreleptin in an African American Boy with Congenital Generalised Lipodystrophy

Ten Svetlana , Bhangoo Amrit , Khurana Divya , Flyer Mark , Garg Abhimanyu

Background: Congenital generalised lipodystrophy (CGL) is a rare autosomal recessive disorder which presents with near total lack of adipose tissue and extreme insulin resistant diabetes. Metreleptin, an analogue of leptin was made through recombinant DNA technology. It was approved to treat CGL from February 2014.Our case represent successful use of Metreleptin in a child with diabetes developed secondary to CGL.Case presentation: A 14-years-old African...

hrp0084p3-976 | GH &amp; IGF | ESPE2015

Thyroid Function in Children with Prader-Willi Syndrome, the First 12 Months of GH Therapy

Musthaffa Yassmin M , Hughes Ian P , Harris Mark , Leong Gary

Background: Normal thyroid function is necessary for the optimal growth promoting effects of GH. Changes in the hypothalamic-pituitary-thyroid (HPT) axis following GH have been reported in subjects initially thought to be euthyroid. A specific group of patients, children with Prader-Willi syndrome (PWS), are thought to have a ‘vulnerable’ HPT axis.Objective and hypotheses: To evaluate the impact of paediatric GH therapy on thyroid hormone statu...