hrp0094p2-471 | Thyroid | ESPE2021

Mitigating thyroid cancer risk in multinodular hyperplasia secondary to a 10q23.31 deletion (PTEN Hamartoma Tumour Syndrome)

Shaunak Meera , Davies Justin

Introduction: The phosphatase and tensin homolog (PTEN) hamartoma tumour syndrome (PHTS) groups related multi-system genetic disorders linked to germline mutations in the PTEN gene. There is an increased risk of thyroid cancer in PHTS, with some cases arising in childhood. Annual surveillance for thyroid cancer by ultrasound is recommended.Case report: A 15 year old female was referred to Paediatric Endocrinology by Clinical Genetics fo...

hrp0084fc11.1 | Neuroendocrinology | ESPE2015

Mutations in BRAF are Associated with Septo-Optic Dysplasia and Cardiofaciocutaneous Syndrome

Besser Rachel , Gregory Louise , Davies Justin , Dattani Mehul

Background: Mutations in BRAF are a rare cause of cardiofaciocutaneous syndrome (CFC). Recently, BRAF mutations have been reported in papillary craniopharyngiomas, but have not been described in patients with other hypothalamo-pituitary abnormalities. We describe three patients with CFC and septo-optic dysplasia (SOD) associated with heterozygous BRAF mutations.Cases: Patients presented in childhood with clinical features of ge...

hrp0094p1-47 | Sex Endocrinology and Gonads A | ESPE2021

STK11 gene variant (Peutz-Jeghers Syndrome) presenting with unilateral pre-pubertal gynaecomastia and macro-orchidism without muco-cutaneous pigmentation or gastrointestinal symptoms.

Shaunak Meera , Side Lucy , Afzal Nadeem , Davies Justin ,

Introduction: We report two siblings presenting with pre-pubertal gynaecomastia and macro-orchidism, who were later diagnosed with Peutz-Jeghers Syndrome (PJS) secondary to a STK11 gene variant. Importantly neither child fulfilled the clinical criteria for diagnosis at presentation, with no muco-cutaneous pigmentation nor gastrointestinal symptoms.Case report: Sibling 1 was referred to Paediatric Endocrinology aged 4 years with ...

hrp0082fc10.5 | Programming & Early Endocrinology | ESPE2014

Contrasting Associations of Maternal Smoking and Alcohol Intake in Late Pregnancy and Offspring Body Composition in Childhood

Moon Rebecca , D'Angelo Stefania , Davies Justin , Dennison Elaine , Robinson Sian , Inskip Hazel , Godfrey Keith , Harvey Nicholas , Cooper Cyrus

Background: There is increasing recognition that the in utero environment might influence obesity risk.Objective and Hypotheses: We explored the hypothesis that smoking and alcohol consumption in pregnancy are associated with offspring body composition using the Southampton Women’s Survey mother-offspring birth cohort study.Method: At 34 weeks’ gestation, maternal smoking and any alcohol intake in the preceding 1...

hrp0094p2-13 | Adrenals and HPA Axis | ESPE2021

Utilisation Of The I-CAH Registry As A Tool For Facilitating Health Quality Improvement Strategies- Results Of An International Survey Of Specialist Centres

Ali Salma R. , Bryce Jillian , McMillan Martin , O’Connell Michele , Davies Justin H. , Ahmed S. Faisal ,

Background: Recent studies using data from the International Congenital Adrenal Hyperplasia (CAH) Registry ( (1), have provided valuable insight into the determinants of reported acute adrenal insufficiency (AI) related adverse events, demonstrating that the I-CAH Registry can be used as a tool to create clinical benchmarks in CAH care.Methods: Care quality reports were created for 32 centres who participat...

hrp0094fc7.2 | Fetal Endocrinology and Multisystem Disorders | ESPE2021

Maternal, rather than fetal, genetic variation in vitamin D metabolism is associated with umbilical cord blood 25-hydroxyvitamin D in pregnancies supplemented with cholecalciferol: findings from the MAVIDOS randomized controlled trial

Moon Rebecca , D’Angelo Stefania , Curtis Elizabeth , Cooke Laura , Davies Justin , Crozier Sarah , Godfrey Keith , Graham Nikki , Holloway John , Lewis Rohan , Cleal Jane , Inskip Hazel , Cooper Cyrus ,

Background: Neonatal vitamin D deficiency (VDD) can result in symptomatic hypocalcemia, seizures and cardiomyopathy and has been associated with reduced bone mineralization in childhood, but is potentially preventable with antenatal cholecalciferol supplementation. Single nucleotide polymorphisms (SNP) in the vitamin D metabolism pathway are associated with serum 25-hydroxyvitamin D [25(OH)D] in adulthood. We assessed whether maternal and/or offspring SNPs in ...

hrp0097p1-417 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Executive function, intelligence and bone mineral density: Do associations exist in childhood?

Moon Rebecca , D'Angelo Stefania , Crozier Sarah , Fernandes Michelle , Fall Caroline , Gale Catharine , Godfrey Keith , Davies Justin , Cooper Cyrus , Harvey Nicholas

Background: In later life, osteoporosis and poor cognitive function often co-exist. This has commonly been attributed to post-menopausal estrogen loss, but there is increasing recognition of cross-talk between the brain and bone. For example, in animal models, bone derived osteocalcin has positive associations with brain volume and cognitive function whilst brain-derived neurotransmitters appear to influence bone mass. Despite this, a common early life origin ...

hrp0092p1-6 | Adrenals and HPA Axis | ESPE2019

Health status of children with Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency in the United Kingdom: results of a multi-centre cohort study

Bacila Irina-Alexandra , Mahdi Sundus , Acerini Carlo L , Krone Ruth , Patel Leena , Alvi Sabah , Randell Tabitha , Gevers Evelien , Dattani Mehul , Cheetham Timothy , Kyriako Andreas , Ryan Fiona , Crowne Elizabeth , Davies Justin H , Ahmed S. Faisal , Krone Nils P

Introduction: Congenital adrenal hyperplasia (CAH) is associated with long-term health problems. However, little is known about co-morbidities and their onset in children and young persons (CYP).Objective: To establish the health status of CYP with CAH across the United Kingdom.Methods: A multi-centre prospective study recruited 102 patients with 21-hydroxylase deficiency targeting...

hrp0089p1-p181 | Growth & Syndromes P1 | ESPE2018

Long Term Effects of Childhood Growth Hormone Treatment on Height and Body Mass Index in Adolescents and Adults with Silver-Russell Syndrome

Lokulo-Sodipe Oluwakemi , Canton Ana P. M. , Giabicani Eloise , Ferrand Nawfel , Child Jenny , Wakeling Emma L. , Binder Gerhard , Netchine Irene , Mackay Deborah J.G. , Inskip Hazel M. , Byrne Christopher D. , Davies Justin H. , Temple I. Karen

Growth hormone (GH) is commonly used during childhood to treat short stature in Silver-Russell syndrome (SRS), but final height and long-term body mass index (BMI) data are limited.Objective: To evaluate height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and...

hrp0094fc1.3 | Adrenal | ESPE2021

Re-appraising the use of urinary steroid profiles for assessing therapy control in children with 21-hydroxylase deficiency – results from the CAH-UK cohort study

Bacila Irina , Lawrence Neil , Alvi Sabah , Cheetham Timothy , Crowne Elizabeth , Das Urmi , Dattani Mehul , Davies Justin H. , Gevers Evelien , Krone Ruth , Kyriakou Andreas , Patel Leena , Randell Tabitha , Ryan Fiona , Ahmed Faisal S. , Keevil Brian , Taylor Norman , Krone Nils ,

Introduction: Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) have specific plasma and urinary steroid patterns, with 11-oxygenatedC19 steroids established as key adrenal-specific androgens. Monitoring glucocorticoid (GC) replacement remains a challenge in the absence of reliable biomarkers.Aim: To reassess the urinary steroid profile of children with CAH in relation to plasma ...