ESPE Abstracts

Background: The concurrence of transverse testicular ectopia (TTE) with persistent müllerian duct syndrome (PMDS) is extremely rare. Here, we report a case of TTE with PMDS in a 7-month-old male infant presenting with inguinal hernia and a novel homozygous mutation in the AMH gene. CASE REPORT: A 7-month-old male infant presented to pediatric surgery department with an inguinal hernia on the left side and bilateral undescended testis. During left herniotomy, tiss...

Background: 16 year old female neonate presented with neonatal diabetes, congenital hypothyroidism and sepsis.Objective and hypotheses: To evaluate the neonate for a common cause of neonatal diabetes, congenital hypothyroidism and sepsis and to explore for the best modality of management, including a possible role for sulphonylureas.Method: The neonate born of 3rd degree consanguinity was admitted and started on insulin infusion an...

Background: Hyperinsulinism/hyperammonaemia (HI/HA) syndrome is associated with postprandial hypoglycaemia and mild hyperammonemia. There is increased insulin release following protein ingestion, which is amenable to diaxozide therapy. While developmental delay and normoglycaemic seizures can also occur, hepatomegaly has not been reported. We report a child with HI/HA and hepatomegaly, mild learning difficulty and obesity, who was initially mistaken to have glycogen storage di...

Background: There is evidence that baseline and peak cortisol response to the low dose short Synacthen test (LDSST) varies with pubertal status and gender in children with asthma on inhaled corticosteroids. There are no published data reporting effects of puberty on cortisol response to the insulin tolerance test (ITT) in childhood and adolescence.Objective and hypotheses: To determine whether pubertal status, age or gender influence basal and peak corti...

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Typical features include pre-/postnatal growth impairment, hyperinsulinaemic hyperglycaemia with fasting hypoglycaemia, nephrocalcinosis, recurrent sepsis, little adipose tissue, soft tissue overgrowth, hirsutism, acanthosis nigricans and facial dysmorphism. However, additional comorbidities may be present, affecting prognosis.<...

Objective: To evaluate musculoskeletal development using pQCT in children with coeliac disease (CD) on gluten free diet (GFD) compared with age and gender matched healthy controls.Method: Prospective cross sectional study. 38 children (18 males) with CD on GFD for a duration of 3.6 years (0.6, 12.5) and 38 age and sex matched healthy controls underwent pQCT at 4, 38 and 66% tibial sites. Bloods were collected in CD children only. Results reported as medi...

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...

Background: A disease of the immune system, responsible for 95% of cases of hyperthyroidism in children is very rare at this age, it affects one child in 10 million.Presentation: Khadija 3 year old girl admitted for goiter, no goitrogenic substances No drug Shot, No Inbreeding, goiter paternal aunt, The trouble was in the beginning 1 year a height and weight advance:+1 DS weight, height+3.2 DS, weakness, weight loss, Profuse sweating, tachycardia, irrita...

Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signaling pathway genes. About 70% of the NS patients have short stature, and human recombinant growth hormone (rhGH) is an established yet not fully standardized treatment.Objective: To assess the first 2 years rhGH treatment effectiveness in NS patients at a single centre.Materials and methods: A total of 20 (16 male) NS patien...

Background: Adults with CF show a higher rate of osteoporosis compared to healthy adults. Achieving proper bone mass is a process starting in childhood. We aimed to evaluate the prevalence of decreased bone mineral density (BMD), changes during puberty and risk factors for low BMD in children and adolescences with CF in a large Dutch cohort.Patients and methods: A retrospective observational cohort study was performed in...