hrp0086rfc2.5 | Bone & Mineral Metabolism | ESPE2016

Growth Patterns and Fractures in Boys with Duchenne Muscular Dystrophy: Insights from Over 800 Boys in the UK North Star Cohort

Joseph Shuko , Bushby Katherine , Guglieri Michela , Horrocks Iain , Ahmed S Faisal , Wong S C

Background: There is little information on growth and fractures in boys with Duchenne Muscular Dystrophy (DMD).Objective & hypotheses: To determine the extent of growth & skeletal morbidity in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were analysed following categorisation into five age groups: A:<5 years (n, ...

hrp0084p2-224 | Bone | ESPE2015

Fractures in Boys with Duchenne Muscular Dystrophy and their Relationship to Age

Joseph Shuko , Di Marco Marina , Horrocks Iain , Ahmed S Faisal , Wong S C

Objective and hypotheses: A retrospective review of bone morbidity in a contemporary cohort of boys with Duchenne muscular dystrophy (DMD) managed in a Scottish tertiary neuromuscular centre.Method: Clinical details and results of bone surveillance were obtained in 47 boys, aged 9 years (2–16). DXA bone mineral content (BMC) at total body (TB) and lumbar spine (LS) were adjusted for bone area. Fractures were classified based on radiological confirma...

hrp0094p1-11 | Bone A | ESPE2021

Bone and endocrine monitoring in boys with Duchenne Muscular Dystrophy

Harley Gemma , Dunner Jennifer , Joseph Shuko , Horrocks Iain , Choong Wong Sze ,

Background: In 2020, a UK wide collaborative project between clinicians and patient organisations (Funding from Duchenne UK) called DMD Care UK was launched. The project aims to define the care standards which should be implemented as a priority in all UK centres. Adapting recommendations from the 2018 international care consensus, items were highlighted and used as standards for this audit in one tertiary centre. The standards are that all boys with DMD<p...

hrp0089p1-p031 | Bone, Growth Plate &amp; Mineral Metabolism P1 | ESPE2018

Systematic Screening Using DXA Lateral Vertebral Morphometry is Associated with a High Prevalence of Vertebral Fractures in Duchenne Muscular Dystrophy: Results from ScOT-DMD Study

Joseph Shuko , Shepherd Sheila , Marco Marina Di , Dunne Jennifer , McMillan Martin , Horrocks Iain , Ahmed S Faisal , Wong Sze Choong

Background: The prevalence of vertebral fractures (VF) in Duchenne Muscular Dystrophy (DMD) is currently unknown as systematic spine imaging is rarely performed.Objective: To determine the prevalence of VF in DMD and factors associated with VF.Method: A prospective study utilising systematic screening with DXA vertebral fracture assessment (VFA) was performed in all 47 eligible boys. 6/47 were excluded due to spinal instrumentation...

hrp0089rfc2.1 | Bone, Growth Plate &amp; Mineral Metabolism 1 | ESPE2018

High-Resolution MRI Imaging of Bone-Muscle-Fat in Glucocorticoid Treated Boys with Duchenne Muscular Dystrophy: Results from the ScOT-DMD Study

Joseph Shuko , Dunne Jennifer , Elsharkasi Huda , Foster John , Horrocks Iain , Di Marco Marina , McComb Christine , Ahmed S Faisal , Wong Sze Choong

Background: The pathophysiological mechanism of skeletal fragility in Duchenne Muscular Dystrophy (DMD) is unclear.Objective: To compare trabecular bone microarchitecture, cortical geometry, muscle area and fat fraction (FF) at distal femur and vertebral bone marrow adiposity (BMA) between DMD and controls.Method: Bone-muscle and muscle FF were assessed using 3T MRI and Dixon technique. BMA was assessed using 1H-MRS. Results expres...

hrp0089p2-p280 | Growth &amp; Syndromes P2 | ESPE2018

Skeletal Disproportion and Growth Impairment in Glucocorticoid Treated Boys with Duchenne Muscular Dystrophy

Kao Kung-Ting , Joseph Shuko , Brown Sarah , Capaldi Nadia , Dunne Jennifer , Horrocks Iain , DiMarco Marina , McMillan Martin , Shepherd Sheila , Ahmed Syed Faisal , Wong Sze Choong

Introduction: Although short stature is common in boys with Duchenne Muscular Dystrophy (DMD), little information on body proportions and the GH/IGF-1 axis exists.Methods: Total height (Ht), sitting height (SH), leg length (LL) and bone lengths (femur, tibia, humerus) in boys with DMD (n=30) and healthy boys (n=79) were measured using DXA digital images by 1 observer. Insulin growth factor-1 (IGF1), IGF binding protein-3 (IGFBP-3) and a...

hrp0086p1-p102 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Radiologically Confirmed Fractures in a Scottish Nationwide Cohort of Boys with Duchenne Muscular Dystrophy

Joseph Shuko , Di Marco Marina , Abu-Arafeh Ishaq , Baxter Alex , Cordeiro Nuno , Horrocks Iain , MacLellan Linda , McWilliam Kenneth , Naismith Karen , O'Hara Ann , Faisal Ahmed S , Wong SC

Background: Published studies of radiologically confirmed fractures in sufficiently large cohorts of boys with Duchenne Muscular Dystrophy (DMD) are limited.Objective: To determine the incidence of fractures in a contemporary cohort of 91 boys with DMD managed in all Scottish centres.Method: Radiologically confirmed fractures were classified into vertebral fracture (VF) and non-VF in a retrospective audit of all boys currently mana...

hrp0089p1-p208 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Testicular Development and Puberty in Boys with Duchenne Muscular Dystrophy: Results From the ScOT-DMD Study

Denker M , Joseph S , DiMarco M , Dunne J , Horrocks I , Ahmed SF , Wong SC

Introduction: Delayed or absent puberty is thought to be common in boys with Duchenne Muscular Dystrophy (DMD).Objective: To evaluate testicular development, function and puberty in DMD in a 12 months prospective longitudinal study.Methods: Thirty-four boys had assessment of puberty and testes volume by a single endocrinologist. Testes volumes were converted to Z-scores adjusted for bone age. Boys were divided into group A [Baselin...

hrp0082ha1 | Deciphering the functional mechanisms by which MKRN3 regulates puberty initiation | ESPE2014

Deciphering the Functional Mechanisms by which MKRN3 Regulates Puberty Initiation

Abreu Ana Paula , Navarro Victor , Bosch Martha , Liang Joy , Macedo Delanie , Simavli Serap , Noel Sekoni , Thompson Iain , Ronnekleiv Oline , Carroll Rona , Latronico Ana Claudia , Kaiser Ursula

Background: We recently identified loss-of-function mutations in makorin ring finger 3 (MKRN3) as a cause of familial central precocious puberty (CPP). Analysis of Mkrn3 expression in the arcuate nucleus of mice showed high expression levels in juvenile mice, with a marked reduction prior to puberty onset, suggesting that MKRN3 inhibits puberty initiation. The function of MKRN3 is not known but based on its amino acid sequence, it is predicted to act as an ubiquitin l...

hrp0094fc8.2 | Neuroendocrinology | ESPE2021

Recessive PRDM13 mutations result in hypogonadotropic hypogonadism and cerebellar hypoplasia

Gregory Louise C. , Whittaker Danielle E , Oleari Roberto , Quesne-Stabej Polona Le , Williams Hywel J. , UCL GOSgene , Torpiano John G , Formosa Nancy , Cachia Mario J. , Field Daniel , Lettieri Antonella , Ocaka Louise , De Martini Lisa Benedetta , Rajabali Sakina , Riegman Kimberley L. , Paganoni Alyssa J.J. , Chaya Taro , Robinson Iain C.A.F. , Furukawa Takahisa , Cariboni Anna , Basson M. Albert , Dattani Mehul T. ,

Three patients from two unrelated families in Malta; one consanguineous (siblings: Patient 1, male and Patient 2, female) and one non-consanguineous (Patient 3, male), manifested hypogonadotropic hypogonadism with delayed puberty, intellectual disability, scoliosis, and ataxia with cerebellar hypoplasia on MRI. GnRH tests revealed low peak LH and FSH concentrations in the patients: Patient 1; LH 2.3 IU/L, FSH 4.4 IU/L (14.3y), Patient 2; LH 3.6 IU/L, FSH 6.4 IU/L (12.5y), Pati...