hrp0086p1-p139 | Bone & Mineral Metabolism P1 | ESPE2016

Dental Effects of Intravenous Bisphosphonate When Administered in Early Infancy

Zacharin Margaret

Background: Osteogenesis imperfecta (OI) is characterized by abnormal bone development with low bone mass and increased bone fragility. Dominant mutations affect synthesis & structure of type 1pro-collagen. Recessive mutations affect post-translational processing or tracking of type 1 pro-collagen. OI may be associated with dentinogenesis imperfecta type 1, for both primary and permanent dentition, particularly primary, manifested as tooth discoloration, reduced enamel thi...

hrp0086p2-p388 | Gonads & DSD P2 | ESPE2016

Fertility Outcomes after Childhood Onset Hypothalamic Hypogonadism

Zacharin Margaret

Background: Childhood onset (CO) hypogonadotrophic hypogonadism (HH), congenital or acquired after midline tumours and their treatment, is reported to have significantly poorer outcomes, in terms of adult spermatogenesis induction and duration of treatment to conception, compared with HH of post pubertal onset. A mixed cohort (youngest aged 26 years) reported median time to conception of 28 months.1 Use of hCG and FSH in adolescence is reported to result in spermato...

hrp0086p2-p577 | Perinatal Endocrinology P2 | ESPE2016

Endocrinologists Have A Role in Moderating Adverse Metabolic Consequences of Early Over Feeding of Children Born IUGR

Zacharin Margaret

Background: Intra uterine growth retardation (IUGR) is well recognized to result in infants born small for gestational age (SGA). Early morbidity is followed by increased lifetime risks for health problems, particularly in the 10% of IUGR infants who fail to catch up. Risks include metabolic syndrome with obesity, insulin resistance, abnormal glucose metabolism, hypertension, dyslipidaemia, T2DM. Rapid weight gain in infancy is associated with increased incidence of later obes...

hrp0086p2-p762 | Pituitary and Neuroendocrinology P2 | ESPE2016

Recovery of Hypothalamic Pituitary Function After Stalk Transection and Panhypopituitarism in an Adolescent

Zacharin Margaret

A 12 year old boy sustained a severe head injury by a passing car whilst crossing the road. Injuries were confined to massive basal skull fracture, right sided blindness, acute onset diabetes insipidus, extradural and subdural bleeding requiring surgical decompression. Pre-operative physical examination revealed a healthy looking boy, height 60th centile for age, Tanner stage III puberty, 10 ml testes bilaterally. MR head demonstrated apparent pituitary stalk transection and r...

hrp0082wg8.4 | GPED | ESPE2014

Inequities of Treatment Options in Developing Countries: Congenital Adrenal Hyperplasia

Zacharin Margaret

Adrenal insufficiency of any cause results in major morbidity and increased lifetime risk for adrenal crisis and potential mortality. A majority of those affected by disorders of either congenital or acquired origin have deficiencies of both glucocorticoid and mineralocorticoid. Preferred replacement treatment for infants, children and adolescents with growth potential is considered to be with hydrocortisone and fludrocortisone.Both medications are advoc...

hrp0095p1-428 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Extra-articular calcification in an adolescent boy: where history is paramount

Rodrigues Farrah , Zacharin Margaret

A 15-year-old boy, an active sportsperson, presented to an orthopaedic surgeon with a painful left elbow. He had no history of preceding trauma, had full range of motion of his elbow and was systemically well. Imaging demonstrated extra articular calcification at the distal humerus. Serum phosphate was elevated at 2.53mmol/l [1.10-1.80] with calcium 2.48mmol/l [2.10-2.60] and tubular reabsorption of phosphate of 94.6% [82-100%]. He was then referred for endocrine assessment, w...

hrp0095p1-376 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A virilizing ovarian tumour following previous rhabdomyosarcoma, masking ovarian failure

Rodrigues Farrah , Zacharin Margaret

An 11 year 8-month-old girl presented to her oncologist with recent voice change and increased leg hair growth. She had a past history of pelvic rhabdomyosarcoma in 2012, at age 2, with relapse and local metastasis at age 4. Prior to original tumour treatment, oophoropexy had been performed, aiming to prevent ovarian radiation exposure. At time of the new complaint, she was receiving a trial treatment. Puberty was reported to have commenced at age 10, with 6-months of increase...

hrp0095p2-204 | Multisystem Endocrine Disorders | ESPE2022

Early detection of gastrointestinal polyps and neoplasia following radiation for childhood-onset cancer

Atlas Gabby , Zacharin Margaret

Exposure to abdominal radiation for childhood cancer has been associated with an increased risk of gastrointestinal polyps and neoplasia. These patients have a similar risk of developing colorectal cancer (CRC) as those with two or more first-degree relatives with CRC. There has been an inconsistency in clinical practice guidelines, partly due to limited evidence that treatment-associated colorectal cancer has a preceding screen-detectable phase. The previous recommendation fr...

hrp0086rfc7.5 | Gonads & DSD | ESPE2016

Fertility Preservation in an Adolescent Boy: Inducing Puberty and Spermatogenesis Prior to Bone Marrow Transplantation

Ho Cindy , Zacharin Margaret

Background: Bone marrow transplantation (BMTx) involves pre-conditioning regimens that compromise fertility Delayed puberty and hypogonadism are common in children with beta thalassemia major, due to chronic disease and transfusion requirements, due to iron overload in endocrine glands.Objective and hypotheses: Pubertal induction using hCG and FSH prior to gonadotoxic conditioning before BMTx should result in spermatogenesis sufficient to store sperm. We...

hrp0086p2-p179 | Bone & Mineral Metabolism P2 | ESPE2016

Bisphosphonate Use for Control of Chronic Severe Bone Pain in Children with Malignancy Associated Bone Involvement

Joshi Kriti , Zacharin Margaret

Background: Bone involvement occurs commonly in pediatric malignancies, due to infiltration, metastasis or avascular necrosis. Pain is frequently chronic, debilitating, requires narcotic analgesia and can result in immobilization in bed or wheelchair. Intravenous bisphosphonates whilst primarily acting as osteoclast inhibitors also result in rapid and often complete pain relief in primary bone fragility disorders. When administered to children with malignant conditions affecti...