ESPE Abstracts

Background: Adherence to GH treatment is a challenge.Objective and hypotheses: We analysed the impact of treatment duration, treatment success, treatment indication, age, gender, pubertal stage, and height on treatment adherence (TA) to optimise treatment success.Method: Based on the easypod autoinjector used in the Saizen-online prospective, multicenter, open-label, noninterventional study we analyzed TA in 6 months periods. TA wa...

Background: Herediter hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Affected individulals present at early infancy with severe hypocalcemia and hypomagnesemia which leads to tetany and seizures.Objective and hypotheses: In this report, we want to present the clinical features, treatment regimen, follow-up of a patient with a novel h...

Background: DICER1 syndrome is caused by germline mutations in the DICER1 gene. It is associated with a wide spectrum of benign and malignant neoplasms, which are accompanied by specific somatic mutations in DICER1. Multinodular goiter (MNG) is a common clinical feature of DICER1 syndrome in children and adults; the thyroid ultrasound (US) features of MNG in the setting of DICER1 syndrome have not been widely reported.<...

Objective: The number of heavy newborns is increasing steadily. Often the gestational diabetes (GDM) has not been identified even though an increasing number of pregnant woman are being screened. We examined in a circumscribed area how often the pregnant women passed through an oral glucose tolerance test (oGTT) and had it been realized and interpreted according to the AWMF guidelines.Methods: In this prospective study we analyzed the OGTT results from 1...

Background: Both CYP24A1 and SLC34A1 gene mutations are responsible for idiopathic infantile hypercalcemia (IIH). Whereas loss-of-function mutations in CYP24A1 (25-OH-vitamin D-24-hydroxylase) lead to a defect in the inactivation of active 1,25(OH)2-vitamin D3, mutations in SLC34A1 encoding renal sodium-phosphate co-transporter NaPi-IIa lead to primary renal phosphate wasting combined with an inappropri...

Background: Hypercalcemia requires new investigation pathways after publishing the mutations of the CYP24A1 gene. Furthermore, diagnostic puzzles connected to it still remain.Objective and hypotheses: We present a 1.5-years-old girl with infantile hypercalciuria who has been followed-up since she was 4 months old. The child is born from uneventful pregnancy, normal delivery, on term with weight 3600 g and length 52 cm. Two months after birth she became i...

Background: Brain-lung-thyroid syndrome (BLTS, OMIM# 610978) is caused by mutations in the NK2 homeobox 2 (NKX2-1; TTF1) gene affecting the three NKX2-1 expressing organs brain, lung and thyroid. The syndrome is characterized by benign hereditary chorea (BHC), infant respiratory distress syndrome (IRDS) and congenital hypothyroidism (CH). However, the clinical spectrum and severity of symptoms vary widely. Regarding the increasing number of published mutations and het...

Objectives: GH deficiency (GHD) and small for gestational age (SGA) status are associated with cardiovascular risks. We therefore investigated antiatherogenic effects of GH.Methods: Subfractions of LDL and HDL, lipoprotein-associated phospholipase A2 (Lp-PLA2), and high-sensitivity C-reactive protein (hsCRP) were measured at baseline, after 8 and 52 weeks of GH treatment in 51 short children born SGA (n=33) or with GHD (n=18).<p cla...

Background: Steroid 21-hydroxylase deficiency (21OHD) is the most common form of congenital adrenal hyperplasia. Patients present with cortisol and aldosterone deficiency as well as with hyperandrogenism, leading to virilisation in females and early adrenarche in both sexes. Requiring life-long glucocorticoid (GC) replacement, patients frequently experience daily fluctuations between GC overexposure and deficiency. Increased prevalence of metabolic disease con...

The zebrafish is established as an important model system for studying development and disease, and characterisation of the developmental and functional roles of steroids is crucial for its effective employment in this remit. Whilst oestrogens are known to be essential for female development in zebrafish, the roles of androgens in the development, maintenance and function of the male reproductive system remain unclear.In order to investigate these proces...