ESPE Abstracts

Objectives: Continuous subcutaneous insulin infusion (CSII) has been associated with lower HbA1c. To explore whether CSII initiation leads to HbA1c improvement in each individual with type-1 diabetes and to identify co-variates which might influence change in HbA1c.Methods: 5,040 pediatric type-1-diabetes subjects (δ20 y, 49% boys, median age at diabetes onset [Q1;Q3]: 5.9 [3.5;8.4] years) ...

Background/Introduction: Whole exome sequencing (WES) revolutionized clinical genetics in patients with differences of sex development (DSD). However, our ability to interpret WES data is limited by our incomplete understanding of the mechanisms involved in DSD. Thus, we created a methodology that scores potential candidates based on single cells transcriptomics of human male gonadal cells and applied it to WES data from a cohort of genetically male (46,XY) DS...

Drosophila melanogaster as a study model has already significantly contributed to the understanding of the mechanisms of many human diseases. So far D. melanogaster has rarely been exploited as a model for human sex development. Nanda et.al already demonstrated in 2009 that the Drosophila orthologue of SOX9, Sox100B is essential for testis development in Drosophila. Similarly, we could demonstrate that the fly homolog of STARD8, cv-c</...

Purpose: Childhood-onset craniopharyngiomas (CP) are diagnosed due to clinical symptoms (symCP) or incidentally (incCP). In childhood-onset CP, studies on history before CP diagnosis have revealed symptoms and complaints related to CP, which were documented in CP patients’ records with a median duration of 5 months prior to CP diagnosis. We investigated clinical manifestations and outcome in incCPs and symCPs.Methods:</stro...

Background: Cranioparyngiomas are rare low-grade embryonic malformational tumors of the sellar/parasellar region. The prognosis after diagnosis during childood and adolescence is influenced by endocrine and hypothalamic long-term sequelae. A legal status of the degree of disability (GdB), according to the German Social Code Book V that is worthy of support provides financial means for psychosocial rehabilitation and participation of craniopharyngioma survivors...

Objective: Re-testing of childhood-onset GHD needs discontinuation of GH treatment at near-adult height. We recently reported significant changes of body composition as a consequence of severe GHD during this time period.Aim: Does a 6 month interruption of GH treatment decrease bone quality significantly in patients with severe GHD of adolescence?Patients and Methods: In 90 patient...

Background: In males with congenital hypogonadotropic hypogonadism (CHH), LH/FSH stimulation of gonads is deficient. In clinical practice, two hormone replacement strategies are employed to induce and maintain virilisation: Treatment with testosterone and gonadotropin replacement with hCG/rFSH.Objective: To delineate the role of gonadotropins in pathways of male androgen biosynthesis and to thereby better define the gona...

Background and Objective: Obesity is known to affect pubertal timing. However, existing data are still controversial, observing either delayed or accelerated pubertal onset, especially among boys. Herein, we evaluated pubertal milestones and underlying hormonal changes between lean and obese children.Material and Methods: We examined 13,484 events from 4,855 lean (BMI SDS <1.28) and 1,983 obese (BMI SDS > 1.88) c...

Introduction: Congenital central hypothyroidism is a rare pathology, whose molecular origin has been identified more frequently since discovery of the role of IGSF1. The natural evolution of central hypothyroidism in patients with mutations is not well known however.Case report: A male infant born at term with a normal birth weight received thyroid function tests in the neonatal period because of symptoms of bra...

Introduction: An optimized replacement regimen with glucocorticoids and mineralocorticoids in subjects with congenital adrenal hyperplasia (CAH) aims at preventing life-threatening salt wasting and adrenal crises, virilization and pubertal precocity, and at enabling normal linear growth.Aims: We investigated puberty and its impact on final height in children and adolescents with CAH.Patients and Methods: In a cohort of post-pubesce...