ESPE Abstracts

Background: The fundamental challenge of developing a long-acting growth hormone (LAGH) is to create a more convenient growth hormone (GH) dosing profile while retaining the excellent safety, efficacy, and tolerability of daily GH. With GH receptors on virtually all cells, replacement therapy should achieve the same tissue distribution and effects of daily (and endogenous) GH while maintaining levels of GH and resulting IGF1 within the physiologic range....

Background: DAVID syndrome (deficit in anterior pituitary function and variable immune deficiency) (J Clin Endocrinol Metab 97 E121, 2012) can be caused by NFKB2 mutations (Am J Hum Genet 93 13, 2013). All patients have an orthotopic posterior pituitary (PP) and most only ACTH deficiency.Objective and Hypothesis: To describe a girl with common variable immunodeficiency (CVID), ectopic PP (EPP) ...

Background: TransCon GH is a novel sustained-release recombinant human GH (somatropin) prodrug in development for children with GH deficiency (GHD). It is designed to release unmodified GH and intended to provide comparable efficacy, safety, tolerability, and immunogenicity to daily GH with once-weekly dosing. Based on results from a phase 2 trial, which demonstrated comparable efficacy (annualized height velocity for TransCon 0.21 mg GH/kg per week of 12.9 cm/year vs 11.6 cm/...

Introduction: Primary hypogonadism is stated as one of major features in patients with Turner Syndrome (TS), however it is not a constant finding. Variable markers of ovaries failure in TS patients are still missing. The present study aimed to evaluate the usefulness of atymullerian hormone and inhibin B assessment in predicting spontaneous puberty in patients with TS.Methods: The study included 35 TS patients. Gonadal a...

An oral GH secretagogue (GHS), LUM-201, stimulates GHSR-1a receptor to enhance endogenous GH pulsatile release. In moderate iPGHD, pulses of GH are found but at reduced levels, resulting in decreased IGF-1 and poor growth. The impact of LUM-201 on GH profiles during treatment of such children has not been reported.Objective: To characterize GH profiles, defined by deconvolution analysis, based on GH concentration in a time series and its...

Background: Existing tests are not 100% accurate in differentiating between isolated hypogonadotropic hypogonadism (HH) and constitutional delay of puberty (CDP) in boys. Inhibin B is a glycoprotein produced by the Sertoli cells and is measurable even before puberty. Its level increases at the beginning of puberty under the influence of FSH.Objective and hypotheses: The levels of inhibin B (InhB) could differentiate between HH and CDP. We aimed to establ...

Background: TransCon hGH is a sustained-release prodrug in development as a long-acting GH for children with growth hormone deficiency (GHD). TransCon hGH consists of a parent drug, growth hormone (hGH; somatropin), that is transiently bound to a carrier via a TransCon linker. The carrier extends hGH circulation time in the body and fully active hGH is released over one week at physiologic pH and temperature. Unlike other molecules in development, TransCon hGH...

Background: Patients affected by pseudohypoparathyroidism type 1b (PHPI-b) develop resistance to PTH leading to hypocalcemia and hyperphosphoremia, which is often associated with resistance to TSH. PHP-Ib is associated with methylation changes at one or several differentially methylated regions (DMRs) within the GNAS complex locus, located at 20q13.2–13.3. This locus gives rise to several different transcripts (NESP55, XL, A/B), with varying patterns of imprinted expressi...

Introduction and objective: Gonadectomy was carried out for a long time after the diagnosis of complete androgen insensitivity syndrome (CAIS). It is now recommended to leave the gonads in situ in order to guarantee endogenous hormone production. It is unclear how best to clinically monitor testicular function. The aim of the study was to investigate whether inhibin B can be used as a future follow-up parameter to screen for gonadal function in CAIS p...

Background: The female gonadal axis is activated in mini-puberty and thereafter it is quiescent until puberty. We have shown that many girls with no clinical sign of puberty in the age group 1-6 yr. have a rather strong luteinizing hormone (LH) and follicle stimulating hormone (FSH) response to a gonadotropin releasing hormone (GnRH) test. However, stimulated LH and FSH values decreased in the age interval 1-6 yr and no LH/FSH values rose above 0.43. Serum est...