ESPE Abstracts

Background: There are no available guidelines on hormonal therapy to suppress menstruation in teenagers and young adults (TYA) undergoing chemotherapy.Objective and hypotheses: To review the use of LHRH analogues (LHRHa) (Leuprorelin (L)) or continuous progesterone (Norethisterone (N)) to defer menses in TYA undergoing chemotherapy in a single Institution and initiate guidance on its use.Method: Clinical notes of 27 TYA treated wit...

Background: Pathogenic IGFI gene mutations causing childhood growth failure are rare. Only 5 autosomal recessive mutations, one IGFI copy number variant and 2 heterozygous frameshift mutations are reported. Heterozygous missense IGFI mutations have not previously been described.Objectives: To identify and functionally characterise a novel missense IGFI variant in a patient with postnat...

Introduction: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare autosomal recessive condition caused by inactivating mutations in the GALNT3 gene, characterised by elevated serum phosphate and 1,25(OH)2 vitamin D, increased urinary tubular reabsorption of phosphate and hyperostosis of long bones.Case report: A 15-year-old boy (weight +1.05 SD; height −0.1 SD) with consanguineous parents of Palestinian descent, presented w...

Background: Ovotesticular disorders of sexual development (DSD) are a rare form of DSD with co-existence of both ovarian and testicular tissue in one or both gonads.Case report: A term infant (weight +1.38 SDS) presented at birth with severe penoscrotal hypospadias, a small phallus and a right hemiscrotum with descended gonad (external masculinization score 1.5). Pelvic ultrasound revealed no Mullerian structures, a small right gonad with probable epidid...

Introduction: Xanthogranulomatous hypophysitis (XGH) is a very rare form of pituitary hypophysitis that may present both clinically and radiologically as a neoplastic lesion or craniopharyngioma. Our case series compares the paediatric and adult presentations of XGH and the differential diagnoses considered.Case series: Patient 1: A 15-year-old female presented with refractory headache, lethargy, short stature, delayed growth (weight (−3.3...

Background: Over-dosing and under-dosing of vitamin D in children and young people appears to be common, based on our audit of current practice. The contribution of ethnicity, skin colour, and vitamin D binding protein (VDBP) genotype has not been fully explored during vitamin D treatment.Objective: To investigate how ethnicity/skin colour and genetic variation affect the response to 150 000 units of vitamin D administered to young adults of White Caucas...

Background: Acromesomelic dysplasia Maroteaux type (AMDM) (OMIM 602875) is a rare autosomal recessive skeletal disorder with an approximate prevalence of 1/1,000,000) and characterized by severe dwarfism accompanied by shortness of distal and middle segments of extremities. Mutations in the NPR2 gene which encodes for the natriuretic peptide receptor B (NPR-B) is the underlying genetic cause of this disorder.Objective and hypotheses: Genetic con...