hrp0097p1-414 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Multidisciplinary approach in achondroplasia – real world experience after drug approval of vosoritide

Kunkel Philip , Al Halak Maesa , Bechthold-Dalla Pozza Susanne , Grasemann Corinna , Keller Alexandra , Muschol Nadine , Nader Sean , Palm Katja , Poetzsch Simone , Rohrer Tilman , Rutsch Frank , Schnabel Dirk , Voelkl Thomas , Vogt Bjoern , Wechsung Katja , Weigel Johannes , Woelfle Joachim , Pfaeffle Roland , Gausche Ruth , Beger Christoph , Mohnike Klaus

Background: Achondroplasia (Ach) is a rare growth disorder caused by a point mutation in the fibroblast growth factor receptor 3 gene that results in dysproportionate extreme short stature and can lead to a wide range of multisystemic complications throughout the individual's life with reduced quality of life. In the past, orthopaedic and neurosurgical therapies have been developed to partially improve mobility, reduce pain and prevent neurological disabi...

hrp0092p2-67 | Diabetes and Insulin | ESPE2019

Periodontal Disease Among Children and Adolescents with Type 1 Diabetes Mellitus

Babiker Omer , Osuji Oliver , Qudah Mansour , Al Brahim Nahla

Periodontal disease is defined as inflammation within the supporting tissues of the teeth, progressive attachment loss, and bone loss. It results from an extension of inflammation from the gingiva into deeper periodontal tissue. Periodontal disease is well studied among the adult population. Diabetes mellitus is considered as one of its risk factors among adults. We conducted this cross-sectional pilot study to investigate the association of periodontal disease and metabolic c...

hrp0082p3-d1-876 | Perinatal and Neonatal Endocrinology | ESPE2014

Biochemical Studies in Patients with Hyperinsulinaemic Hypoglycaemia

Otaibi Hessah Al , Senniappan Senthil , Alam Syeda , Hussain Khalid

Background: Hyperinsulinaemic hypoglycaemia (HH) is characterized by the dysregulated secretion of insulin from the pancreatic β-cell. It is a major cause of severe and persistent hypoglycaemia in the newborn period. The rapid diagnosis and avoidance of recurrent episodes of hypoglycaemia are vital in preventing brain damage.Objective and hypotheses: To assess if the serum insulin measured at the time of hypoglycaemia in neonates with HH could be co...

hrp0094p2-100 | Diabetes and insulin | ESPE2021

The knowledge and Confidence in Management of Diabetic Ketoacidosis (DKA) among Iraqi Paediatric Residents: a Cross Sectional Study

Alsaffar Hussain , Al-Jumaili Ali Hasan , Hadi Wasnaa ,

Introduction: Diabetic ketoacidosis (DKA) is a common medical emergency and is the most common cause of death in children with type 1 diabetes mellitus due its complications. Paediatric residents are usually the first line whom managing paediatric emergencies in Iraqi hospitals. They form the backbone of the provided service. It is important to make sure they are practicing at the highest possible standard to ensure patients’ safety. Therefore, it is cruc...

hrp0094p2-279 | Growth and syndromes (to include Turner syndrome) | ESPE2021

The Effect of Hospital Admission and Nutritional Rehabilitation (NR) on Growth and Metabolic abnormalities in adolescent females with severe Anorexia Nervosa (AN)

Al-Ansari Alanoud , Alsafi Athba , Alaaraj Nada , Soliman Ashraf ,

There is a lack of clear evidence-based guidelines for hospital admission of adolescents with anorexia nervosa (AN), resulting in a high degree of variation in practices. Acceptable indications for admission include the following: weight is less than 75% of ideal body weight, temperature < 35.5°C, heart rate < 50 beats/min, systolic BP <80 mm Hg, and orthostatic change in pulse or in BP.The aim of this study: To evaluate the ant...

hrp0094p2-280 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status

AL Jorge Alexander , Pietropoli Alberto , Kelepouris Nicky , Horikawa Reiko ,

Objectives: Mutations in PTPN11 are known to be associated with Noonan syndrome (NS), accounting for approximately 50% of cases. Data from a non-interventional and phase 3 study of Norditropin (somatropin; Novo Nordisk A/S, Denmark) were used to assess the impact of PTPN11 mutation status on growth outcomes in children with NS receiving growth hormone therapy (GHT).Methods: The ANSWER (NCT01009905) prog...

hrp0097t7 | Section | ESPE2023

Variants in the Neurodevelopmental Gene Bone Morphogenic Protein/Retinoic Acid Inducible Neural-Specific 2 (BRINP2) are Associated with Severe Delayed Puberty

Al-Sayed Yasmin , Howrad Sasha , Guasti Leonardo , Oleari Roberto

Gonadotropin-releasing hormone (GnRH) is the master hormone regulating the reproductive axis and its pulsatile secretion is crucial for puberty onset and fertility. Disruption in GnRH neuron development or hypothalamic function can lead to absent or delayed puberty (DP) due to GnRH deficiency, with a phenotypic spectrum from severe delayed puberty to partial or complete Hypogonadotropic Hypogonadism (HH). HH can also be present as a shared trait with other neurodevelopmental d...

hrp0098p3-142 | GH and IGFs | ESPE2024

Growth Hormone and Scoliosis; Cause or Coincidence?

Alzahrani Hajer , Alkhuzaei Hisham , Attia Najya , Al Mutair Angham

Introduction: Growth hormone therapy has been approved in the management of short stature secondary to various causes for many years. The safety of growth hormone therapy is questioned in different aspects, one of which is scoliosis development or progression.Cases: We are reporting two cases addressing the concerns of scoliosis and growth hormone (GH) therapy.First case: A 12 year...

hrp0098p3-203 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Pituitary hyperplasia secondary to primary hypothyroidism

M A Al Towati Mabrouka , Subbaryan Anbezhil , Shenoy Savitha

Background: Pituitary hyperplasia secondary to primary hypothyroidism has been reported in adult patients but is rare in paediatric patients. Despite advances in imaging technology, distinguishing between pituitary adenoma and pituitary hyperplasia remains a challenge. This differentiation is important as the primary modality of treatment in hyperplasia is thyroid hormone replacement and not neurosurgical intervention.Case report...

hrp0086p1-p916 | Thyroid P1 | ESPE2016

Papillary Thyroid Carcinoma in a Mother and Child Evolving after the Manifestation of Grave’s Disease

Al Badi Maryam , Lankes Erwin , Kuehnen Peter , Al Semani Aisha , Biebermann Heike , Krude Heiko , Schmid Kurt , Grueters Annette

Background: Familial PTC manifesting in childhood has been described only in single cases, mainly in the context of rare syndromes (APC-associated-syndrome, PTEN-hamartoma syndromes etc). PTC in Grave’s disease (GD) has been described in adults, but not in familial cases including young children.Objective and hypotheses: We investigated the association of large metastatic papillary carcinoma (PTC) in a 10 years old female and her mother evolving rap...