hrp0082p3-d3-655 | Autoimmune Endocrine Disease | ESPE2014

A Conservative Approach to the Management of Endocrine Neoplasia in Carney Complex in an Adolescent Male

Frerichs Carley , Didi Mohammed , Abernethy Laurence , Kenny Simon , Ellis Ian , Blair Joanne

Background: Carney complex (CC) is a rare, dominantly inherited condition due to mutations of the tumour suppressor gene PRKAR1A. Endocrine manifestations include: Cushing’s syndrome (CS) due to primary pigmented nodular adrenocortical disease, pituitary adenomas, testicular neoplasms, thyroid tumours, and ovarian cysts. The management of some of these tumours is controversial.Objective and hypotheses: To describe conservative management of CC.<...

hrp0086p2-p163 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Bone Health Index is Low at Diagnosis of Growth Hormone Deficiency, and Improves During Growth Hormone Therapy

Blair Joanne , Povall Ann , McCoy Paul , Dharmaraj Poonam , Das Urmi , Ramakrishnan Renuka , Senniappan Senthil , Abernethy Laurence , Didi Mohammed

Background: BoneXpert software calculates bone health index (BHI) from cortical thickness and mineralisation of three metacarpals, and bone age (BA) using 13 bones: Radius, ulna and bones in ray 1, 3, 5. Strong correlations between BoneXpert BHI and dual-energy x-ray absorptiometry (DXA) and peripheral quantitative computed CT (pQCT) measurements are reported 1. Low bone mineral density (BMD), measured by DXA, and improvement with GH is described in childhood GH deficiency (GH...

hrp0086p2-p683 | Growth P2 | ESPE2016

Bone Health Index: A Potential Discriminator between Growth Hormone Deficiency and Constitutional Delay in Growth and Puberty in Adolescent Children

Patil Prashant , Dharmaraj Poonam , Povall Ann , Abernethy Laurence , Das Urmi , Didi Mohommed , Ramkrishnan Renuka , Senniappan Senthil , Blair Jo

Background: Constitutional delay in growth and puberty (CDGP), the most common cause of short stature in children, is a transient state of delayed growth, skeletal maturation and attenuated pubertal growth spurt. It is not always easy to differentiate from GH deficiency (GHD) even with robust clinical and auxological assessment, measurement of IGF1 and bone age evaluation Bone health index (BHI) is a quantitative measure of bone health calculated from a hand and wrist X-ray us...

hrp0086p1-p828 | Syndromes: Mechanisms and Management P1 | ESPE2016

A Study of Bone Health Index (BHI) in Girls with Turners Syndrome

Frerichs Carley , Jenkinson Carly , Povall Anne , Abernethy Laurence , Das Urmi , Ramakrishnan Renuka , Senniappan Senthil , Didi Mohammed , Blair Jo

Background: Turners Syndrome (TS) is associated with osteoporosis in later life. ‘BoneXpert’ has enabled the automated assessment of bone age (BA) and Bone Health Index (BHI). Strong correlations between BoneXpert BHI and dual-energy x-ray absorptiometry and peripheral quantitative computed CT measurements are reported. BoneXpert produces a standard deviation score for BHI (BHI-SD) relative to a healthy cohort of children according to BA.Object...

hrp0094p2-58 | Bone, growth plate and mineral metabolism | ESPE2021

Denosumab therapy for giant cell granuloma in a paediatric patient: using quantification of Tc99m-MDP uptake on SPECT imaging to guide treatment.

Wade Laura , Siddle Kathryn , Aderotimi Tobi , Armitage Suzanne , Blair Joanne , Munns Craig , Barnes Nik , Abernethy Laurence , Dharmaraj Poonam ,

Background: Giant cell granulomas (GCG) are uncommon bony lesions that most commonly affect the maxilla and mandible; whilst generally benign they can be disfiguring to the face. Historically, GCGs have been treated with steroids or bisphosphonates to try and avoid surgical resection. Over recent years denosumab, a human monoclonal antibody which acts against the receptor activator of nuclear factor kappa B ligand, has been shown to be effective in treating GC...

hrp0086s1.3 | Innovative therapies in bone and mineral metabolism | ESPE2016

Advances in Treatment of Achondroplasia

Legeai-Mallet Laurence

Skeletal development is a temporally-regulated non-linear process orchestrated by a complex genetic network that proceeds via two distinct ossification mechanisms, namely membranous and endochondral ossification. Genetic disorders of the skeletal system affect both bone and cartilage formation from early fetal development up to post-natal growth. Fibroblast growth factor receptor 3 (FGFR3) is an important regulator of bone formation. Achondroplasia is the most common form of d...

hrp0086p2-p872 | Syndromes: Mechanisms and Management P2 | ESPE2016

Metamemory in Turner Syndrome: A Study Comparing Episodic and Semantic Memory

Souchay Celine , Gourisse Laurene , Brigitte Mignot , Magali Avila , Bertrand Anne-Marie , Faivre Laurence

Background: Tuner syndrome (TS) is associated with a distinctive cognitive profile including memory impairments. The current study focuses on metamemory defined as our knowledge about our memory functioning and yet never been explored in TS.Objective and hypotheses: The aim of this preliminary study is thus to determine what patients with TS know about their memory functioning and when their memory is impaired whether or not they are aware of those defic...

hrp0082p1-d3-196 | Pituitary | ESPE2014

Rathke Cleft Cysts and Endocrine Dysfunction in Children

Dupre Marie , Brioude Frederic , Berard Laurence , Esteva Blandine , Houang Muriel

Background: Rathke’s cleft cysts (RCC) are benign lesions of the pituitary gland, remnants of Rathke’s pouch. RCC have rarely been reported in children and adolescents and are usually known as asymptomatic but some cases may be associated with hormonal disturbances.Objective and hypotheses: The aim of the study was to assess the characteristics and frequency of endocrine disturbances in children with RCC.Method: We retros...

hrp0082p3-d1-812 | Growth | ESPE2014

Maternal Inheritance of an Heterozygous Exon 4 IGF1 Gene Mutation (g.65941 G>A) in an IUGR Child with Mild Post Natal Growth Retardation

Houang Muriel , Brioude Frederic , Azzi Salah , Thibaud Nathalie , Perin Laurence , Le Bouc Yves , Netchine Irene

Background: We already described a partial IGF1 primary deficiency due to an exon 4 homozygous missense mutation (g.65941 G>A). A few patients are now described with a heterozygous IGF1 deletion or mutation, questioning about IGF1 haplo insufficiency role in short stature.Results: We describe a boy born from consanguineous parents, with an intra uterine growth restriction (IUGR). Birth weight: 2520 g (−1 SDS) birth length: 46 ...

hrp0084p3-1052 | Growth | ESPE2015

MEGHA: Observational Study on Prescription of the GH Saizen in Adults in France

Cortet Christine , Pugeat Michel , Fresneau Laurence , Sadoul Jean-Louis , Young Jacques , Souberbielle Jean-Claude , Chanson Philippe

Background: Final results from MEGHA study required by Health French Authorities (HAS).Objective and hypotheses: Objectives are to carry out longitudinal follow-up during maximum 5 years of AGHD patients treated with Saizen, with a description of prescription modalities, demographic and clinical characteristics, patient compliance, product safety, and quality of life.Method: MEGHA is a multicentric study, with prospective follow-up...