ESPE Abstracts

Background: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in patients with a normal female phenotype and 46, XX karyotype. Various anomalies may accompany MRKH. The number of cases with accompanying hyperandrogenemia is limited.Case presentation: We describe a combination of Mullerian agenesis and hyperandrogenemia (total testosterone level 0.85 ng/ml) in a patient presenting with primary amenorrhea and mild hir...

Deletions at 16p11.2 have been reported to be associated with obesity, intellectual disability and various malformations. There are variations in phenotypes associated with deletions of different sizes in this region. Some deletions encompass the SH2B1 gene encoding an adaptor protein involved in leptin and insulin signalling which is believed to be causal for the early-onset obesity of these patients who in addition show a developmental delay (see patient 1). Deletio...

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Previous reports demonstrate a role for recombinant human IGF1 (rhIGF1), however optimal treatment strategy remains unclear.Case series: Four males with DS have been treated with bolus rhIGF1 (see table below). They had no IGF1 response on an IGF1 generation test. No long-term side effects of rhIGF1 were repor...

The development of the artificial pancreas or closed loop for type 1 diabetes, which started as a concept in the last century, took off once continuous glucose monitors became available. The first hybrid closed loop entered the market in 2016, where now several systems compete. This creates the ‘luxury problem’ of having to choose between different systems. Anonymized CGM data collection from company databases try to address the question whether performance in opti...

Background: This multi-country study, conducted in the USA, is also ongoing in France, Germany, Brazil and South Korea (52 healthcare professionals (HCPs) and 30 patients/caregivers in total). The new device consists of a reusable aluminium body and cap, with a multi-use cartridge system, viewing window, dose-display window, dose-selection knob and injection button.Method: Semi-structured 60-min qualitative interviews were conducted in six major US citie...

Background: Children with different growth disorders need therapy with recombinant human GH. Although mostly therapy leads to good results there are clinical cases when the therapy is not working. One of the reasons is patient’s and patient’s family’s adherence. That’s why it is necessary to explore what are the adherence and its impact on therapy’s outcome. Growth disorders can make an influence to all humans’ life, that’s why if it is possi...

Over the past decade, work from our research group has demonstrated that over-expression or activation of the chaperone protein heat shock protein 72 (HSP72; the inducible form of the 70kDa family of heat shock proteins) in skeletal muscle reduces obesity-induced insulin resistance (for review see). These findings led to the development of the small molecule activator of HSP72, namely BGP-15 which, in pre-clinical studies, has proven to be effective in the treatment of several...

Background: The MC2R gene (MC2R) encodes the receptor for ACTH, and MC2R mutations cause ACTH resistance. We describe a MC2R mutation-carrying ACTH resistance patient, who exhibited generalized hyperpigmentation at birth.Objective and hypotheses: The MC2R encodes the receptor for ACTH, and MC2R mutations cause ACTH resistance. We describe a MC2R mutation-carrying ACTH resistance patient, who exhibited generalised hyperpigmentat...

Healthcare professionals (HCPs) receive adherence information on patient Saizen® recombinant human growth hormone (r-hGH) treatment via data wirelessly transferred from the easypodTM electromechanical delivery device to the web-based eHealth platform easypodTM connect. In order to empower patients and caregivers with this information and to provide educational tools, the growlinkTM mobile app is being ...

The third child to Burmese parents is born at term in good condition in a suburban hospital. The baby was breast fed from birth and had a normal physical examination without dysmorphic features or palpable liver edge. The parents have had two previous live male births at term, that developed severe jaundice and seizure in the first 24 hours of life; both passed away on day 3 of life. Due to concerns of possible metabolic condition, the baby was commenced on prophylactic photot...