ESPE Abstracts

Recent years have seen a huge increase in interest in fertility preservation in girls and young women, spurred on by advances in survival from childhood cancer such that long term survival is now the expectation for the great majority of children. This turns attention to the long-term late effects, of which potential loss of fertility is high on the list of patient priorities. In this talk, I will address the question of who needs fertility preservation amongst girls, both wit...

Background: Phthalate exposure results in endocrine disruption by inhibiting steroidogenesis, inducing focal dysgenesis and disrupting germ cell development in the rat fetal testis. Whilst phthalate exposure does not reduce testosterone production by the human fetal testis, its effects on germ cells and induction of dysgenetic areas in the developing human testis are less well described.Objective and Hypotheses: To determine the effects of phthalate expo...

Background: In adult women, serum levels of AMH reflect both the number of small growing follicles and remaining primordial follicles. AMH levels range 15 fold between healthy girls. Interpretation of AMH is contentious due to minor intra-individual changes around time of pubertal onset despite continuous loss of primordial follicles.Objective and Hypotheses: To describe ovarian morphology (volume, follicles) in healthy girls and adolescents in relation ...

Background: Paracetamol is the preferred analgesic and antipyretic during pregnancy. Experimental studies suggest that in-utero exposure to paracetamol disrupts ovarian follicle formation and future ovarian function. This may secondarily affect uterine growth. Female minipuberty is characterized by HPG activity and follicle maturation, however individual levels of reproductive hormones fluctuate considerably.Primary Aim:...

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disease resulting from loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Understanding of the clinical presentation is largely based on single case reports, which presents challenges for the recognition and diagnosis of HPP.Objective: To better understand disease presentation, we surveyed the literature to characterize clinical features and presentat...

Puberty is a critical period for the development and acceleration of vascular complications in Type 1 diabetes (T1D). We have shown that metformin in addition to insulin improves vascular smooth muscle function and HbA1c in T1D children over 12 months (1). We aimed to determine if children with T1D who received metformin in a randomized controlled trial (RCT) [Trial registration ACTRN126110001148976] have a sustained vascular function improvement 3 years after ceasing metformi...

Background: Heterozygous GNAS inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia when paternally inherited. Mutations on the paternal, but not the maternal, GNAS allele are associated with intrauterine growth retardation (IUGR). Moreover, birth weights were lower with paternal GNAS mutations affecting exons 2–13 (including XL and Gαs) than with exo...

Adult CAH patients have poor health outcomes and these in part relate to the method of glucocorticoid replacement in children and adults. Life-saving glucocorticoid replacement was introduced in the 1950s and the majority of children are treated with immediate release hydrocortisone whereas adults are treated with a mixture of hydrocortisone, prednisolone, prednisone and dexamethasone from one to four times daily and in circadian and reverse circadian regimens. Despite these p...

Background: Glucocorticoid therapy in 21-hydroxylase deficiency (congenital adrenal hyperplasia, CAH) both replaces the cortisol deficiency and reduces adrenal androgen production. Androgen control, however, often requires supraphysiologic and/or nocturnal glucocorticoid exposure. Chronic treatment in this manner contributes to long-term complications observed in CAH cohorts, including high rates of obesity, low bone density, glucose intolerance, skin fragility, and excess mor...

In the 1950s, Lawson Wilkins and colleagues described cortisone therapy for classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD). Wilkins also correctly reasoned that cortisol, derived from cortisone, would exert negative feedback on the hypothalamic-pituitary-adrenal axis and lower adrenal-derived androgens. In the decades following commercial availability of glucocorticoids, children with 21OHD have survived into adulthood; however, long-term compl...