ESPE Abstracts

We evaluated the final height and the endocrine complications encountered in young adult patients with Thalassemia Intermedia (TI) followed at Hematology Section, Doha (Qatar) in relation to the liver iron content (LIC) in non-transfused versus infrequently transfused TI patients.Patients and Methods: This retrospective cohort study was performed on 28 young adults with TI who were randomly selected from the Hematology clinic, National C...

Background: NEUROD1 encoding neurogenic differentiation 1 is known to play an important role in the development of the pancreas and central nervous system. Heterozygous mutations have been rarely identified as a cause of maturity-onset diabetes of the young (MODY6). Biallelic NEUROD1 mutations have been reported to cause neonatal diabetes mellitus (NDM) as well. However, only 3 cases have been reported worldwide so far....

Introduction: MRI imaging is the technique of choice in the diagnosis of children with hypopituitarism. Marked differences in MRI pituitary gland morphology suggest different etiologies of GHD, different clinical and endocrine outcome and different prognoses.Objective: To investigate the auxological, clinical and hypothalamic pituitary-MRI features in children with non-acquired growth hormone deficiency (GHD); and determ...

Background: Chronic kidney disease (CKD) was defined by structural or functional renal abnormalities, or an estimated glomerular filtration rate (GFR) of less than 60 mL/min per 1.73 m2. A child with CKD may develop many complications such as: anemia, poor growth and nutrition, bone and mineral disorders, cardiovascular complications, and complications of hemodialysis, and peritoneal dialysis.Aim: Assessment of severity ...

Introduction: Nephrotic syndrome (NS) is one of the most frequent glomerular pathological conditions seen in children. The International Study of Kidney Disease in Childhood (ISKDC) reported that 84.5% of children with idiopathic nephrotic syndrome (INS) had minimal-change nephrotic syndrome (MCNS). Complications of INS may arise as a result of the disease itself or secondary to treatment. The chief complications of NS are infection, followed by thromboembolic events. Other di...

Background: Congenital hyperinsulinism is a frequent cause of persistent hypoglycaemia in neonates. Mutations of the KATP channel subunit are the most common molecular defects. We report here a novel ABCC8 gene mutation causing a severe form of CHI in a newborn.Case report: A 10-day-old boy born to consanguineous parents was referred for persistent hypoglycaemia. He was born by normal vaginal delivery at 38 weeks gestation, birth weight was 4....

Backgrounds: The prevalence of congenital malformations (CM) is higher in infants referred with capillary (c) TSH elevation on newborn screening. However, establishing the prevalence of CM ± dysmorphic syndromes in true congenital hypothyroidism (CH) requires careful distinction between true and transient CH.Objective: To determine the prevalence of CM ± dysmorphic syndromes in all infants referred with TSH elevation on newborn screening in Sco...

Background: Screening for congenital hypothyroidism (CH) has virtually eradicated the severe mental handicap associated with late or absent treatment. We have previously reported two audits of newborn screening for CH between 1979 and 2003 showing significant improvement from the first to more recent period.Objective and hypotheses: We aimed to audit the period 2004–2013 and report trends in timing of sampling, laboratory processing, delay between f...

Background: Girls with Turner syndrome (TS) are inappropriately short for their parents’ heights; measured parental height is therefore useful in diagnosis.Objective and hypotheses: To examine the sensitivity of measured parental height in the diagnosis of TS; and to audit the frequency of parental height measurement in our clinic.Method: Case note review of all girls with TS attending our dedicated Turner clinic between 1989&...

Background: Establishing thyroid size as large, normal or small in newborn infants with TSH elevation and in situ thyroid is important for diagnosis and informing molecular genetic studies.Objective and hypotheses: To compare intra-observer variation in the objective (Ox) measurement of thyroid volume (vol) by ultrasound (US); and the correlation between subjective (Sx) and Ox assessment.Method: Joint blinded retrospective...