ESPE Abstracts

Turner syndrome (TS) affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating a multidisciplinary approach to care. Numerous important advances have been noted during recent years. These advances cover all specialty fields involved in the care of girls and women with TS. This new international guideline is based on an international effort with emphasis on 1) diagnostic and genetic issues, 2) growth and development during child...

Turner syndrome is a condition in females missing a sex chromosome (45,X) or parts of the second sex chromosome. It is considered a rare condition and associated with a range of characteristics, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations of the heart, endocrine disorders, including a range of autoimmune conditions and type 2 diabetes. Morbidity and mortality is clearly increased compared with the background population a...

Background: Prenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding long term adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21 hydroxylase defic...

Background: H syndrome (OMIM #602783) is an autosomal recessive syndrome resulted from mutations in the SLC29A3 gene, encoding hENT3 protein. Characteristic findings are cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus, cardiac anomalies, hallux valgus and short stature. Herein we report a girl with multiple endocrinopathies due to H syndrome.Case: Ten year and 5 month old girl was referred be...

Background: IGF1 is a biomarker of GH, and is often used to titrate the dose of GH therapy. However, IGF1 production is regulated by not only GH but also other factors.Objective and hypotheses: We investigated whether the increase in IGF1 at several time points after the commencement of GH therapy could be a predictive factor for the improved growth.Method: We studied 45 pre-pubertal patients with GH deficiency (GHD) that had conti...

Background: Few studies have described the phenotypic spectrum of Septo-Optic Dysplasia (SOD). The aim of this study was to evaluate the range of H-P structural abnormalities and the endocrine morbidity of children with SOD and related disorders.Methods: Retrospective longitudinal single centre study of children with SOD (n:171), Multiple Pituitary Hormone Deficiency (MPHD) (n:53) and Optic Nerve Hypoplasia (ONH) (n:35).<p class="ab...

Background: Hypospadias surgery is usually performed during infancy at which time parents act as proxy decision makers. Parental decisional regret, a common phenomenon after hypospadias surgery, may be affected by the process of informed consent where decision making between parents and healthcare provider is shared based on available evidence and individual concerns.Objective: To identify short- and long-term parental c...

Background: Obese adults with normal glucose tolerance (NGT) but 1-h post load glucose (1 hPG)≧155 mg/dl have an increased cardiometabolic risk. In children, preliminary data suggest that 1hPG≧132.5 mg/dl might identify those at higher risk of type 2 diabetes.Objective and hypotheses: To assess whether NGT obese youth with 1hPG ≧132.5 mg/dl (High-NGT) have worse insulin sensitivity and secretion compared to obese youth with 1hPG &#60...

Background: Childhood brain tumour survivors are at risk of developing endocrine secondary effects throughout lifetime. Transition between childhood and adult care is a critical moment during which patients may stop medical visits and treatments.Objective: To describe endocrine care transition in our cohort of patients with primary brain tumors followed from 2010-2015, who are ≥=18 years old by December 31st</...

Background: Reduced bone mineral density (BMD) is seen in Turner syndrome (TS) with an increased risk of fractures and osteoporosis. Body composition in TS is characterised by increased body fat (FM) and decreased lean body mass (LBM), even with a normal BMI. Oestrogen replacement therapy for attaining and preserving normal bone mass is necessary in most TS girls. There is a potential role of age-specific estrogen doses, with lower doses used in the early puberty and higher do...