ESPE Abstracts

Background: With improved treatment and survival of childhood hematological malignancies, the issue of fertility in survivors has become an important domain of holistic care. Haemopoietic stem cell transplant (HSCT) survivors were reported to have reduced fertility as compared to siblings, with 4/170 adult female allogeneic HSCT survivors achieving successful pregnancy.1 Of 532 female survivors, median age of 17.8 years at HSCT, who had TBI conditioning, 13 pregnanc...

Background: Congenital GH deficiency (GHD) can be isolated (IGHD) or combined with other pituitary hormone deficiencies (CPHD). The identification of mutations has clinical implications for the management of patients and genetic counseling1.Objective: To prospectively conduct a molecular-genetic analysis in genes associated with IGHD or CPHD.Method: Forty patients with IGHD (n=8) or CPHD (n=32) were stu...

Background: Globally approximately 8%1 of children have type 1 diabetes mellitus (TIDM) with an incidence of 24.5 in every 100 000 children (0–14 years)2. TIDM is an autoimmune condition causing the destruction of beta islet cells and is associated with other autoimmune conditions such as coeliac disease (10% of children with TIDM test are positive for TTG) and hypothyroidism (25% have thyroid autoantibodies). We would like to report a case series of...

Up to 10 % of short stature has been estimated to be due to celiac disease. Celiac disease has been considered a rare condition outside of the Western world but recent publications (Singh P et al, Clin Gastroenterol Hepatol 2018 Jun 16 (6): 823-836, Yuan J et al, Clin Gastroenterol Hepatol 2017 Oct;15(10): 1572-1579) have shown that celiac disease is also present in Asians. While Tissue Transglutaminase IgA (tTg-IgA) has been considered to be a sufficiently sensitive test to e...

Fertility is dependent on the normal development of germ cells, which is controlled by hormones and paracrine factors produced by the somatic cells within the gonads. However, exposure to cancer treatment during childhood can cause damage to the gonads leading to infertility in adulthood [1]. This presentation will explore how various cancer treatments affect gonadal function based on clinical evidence in patients [2], experimental models involving animals and studies utilisin...

Background: The incidence of perinatal stress hyperinsulinism (PSHI) requiring diazoxide treatment is estimated to be 1:12,000 (Hoe et al., 2006). Diazoxide is used to treat PSHI, but it has been shown to have adverse effects including pulmonary hypertension. Gray et al, reported that of 1.25 million infants admitted to NICUs for hypoglycemia over a period of 18 years, only 1066 received diazoxide suggesting 1:1172 babies had HI however 92% o...

Introduction: Vosoritide increases growth in children with achondroplasia aged 5–18 years (Savarirayan et al, Genet Med, 2021). We recently reported results from a phase 2, randomized, double-blind, placebo-controlled study (111-206) in young children with achondroplasia aged 3 months–5 years Here we present results from an open-label extension study (111-208) spanning up to 4 years of treatment in the children aged 2-5 years at study star...

Context: Specific references for height, weight and BMI that consider the maturation tempo for onset of puberty are lacking worldwide.Aim: To fill the gap, by developing specific pubertal references for heightSDS, weightSDS and BMISDS, all aligned for the individual onset of puberty.Method: Reference population: a subgroup of GrowUp1990Gothenburg cohort of 1572 (763 girls) health...

Introduction: Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, regulates several genes involved in male sexual determination, such as SOX9 and AMH, cholesterol mobilization and synthesis of a number of steroidogenic enzymes, like 3βHSD, and androgen biosynthesis, like INSL3. Mutations in NR5A1 have been associated to a broad phenotypic spectrum in 46, XY subjects, including pure gonadal dysgenesis, infertility, anorchia...

Background: Growth hormone (GH) replacement therapy currently requires daily injections, which may cause poor compliance, inconvenience and distress for patients. CTP-modified hGH (MOD-4023) has been developed by OPKO Biologics for once-weekly administration in growth hormone-deficient (GHD) adults and children.Objective and hypotheses: The 24-month efficacy of once-weekly subcutaneous (SC) administration of MOD-4023 was evaluated in a Phase 2 study in G...