ESPE Abstracts

Background: The incidence of perinatal stress hyperinsulinism (PSHI) requiring diazoxide treatment is estimated to be 1:12,000 (Hoe et al., 2006). Diazoxide is used to treat PSHI, but it has been shown to have adverse effects including pulmonary hypertension. Gray et al, reported that of 1.25 million infants admitted to NICUs for hypoglycemia over a period of 18 years, only 1066 received diazoxide suggesting 1:1172 babies had HI however 92% o...

Introduction: The ideal TSH filter value (TSHf) in the neonatal screening tests for Congenital hypothyroidism (CH) is worldwide controversial. Local cutoff point of TSHf was 9.0 mIU/L until recently. OBJECTIVE: To evaluate the clinical and laboratory characteristics of newborns with CH (confirmatory serum TSH > 10 mIU/L) after a lower TSH cutoff. METHODS: Cross-sectional study using data from Neonatal Screening Reference Center of State Rio Grande do Sul, ...

Background: The prevalence of atypical genitalia and the time taken to assign sex in such cases remains unclear. Provision of optimum healthcare during this period requires a clear understanding of the occurrence of atypical genitalia.Methods: Prospective electronic survey of clinical members of managed clinical networks in Scotland between 2013 and 2018 seeking notification of term neonates requiring specialist input fo...

Objectives: To examine age at presentation and outcome in children diagnosed with 21-hydroxylase deficient congenital adrenal hyperplasia (21-OHD CAH) in Algeria in the absence of a national neonatal screening program.Design: Retrospective analysis of patients followed in a single centre from 2007 to 2017. The diagnosis of CAH was established on clinical and biochemical grounds ± genetic analysis.Results: Of 168 patients (114F...

Objectives: To summarize the diagnosis and treatment course of hyperkalemia in twins, review the diagnosis approach of hyperkalemia in neonate and guide clinical practice.Methods: The clinical manifestation, laboratory examination, the course of diagnosis and treatment of the two cases were summarized.Results: A pair of twin girls, 38 days after birth, came to our department because of ‘Hyperkalemia more than one month’. ...

Background: Thyroglobulin (Tg) is exclusively synthesised by thyroid tissue and a potentially useful aid to diagnosis in congenital hypothyroidism (CH). However, its role has yet to be fully evaluated.Objective: To examine the sensitivity and specificity of Tg in helping define the etiology of CH.Patients and methods: Tg was measured in a single laboratory by Immulite 2000 chemiluminescent immunometric assay (CVs 9.8, 5.7 and 5.7% ...

Background: Congenital hyperinsulinism (CHI), a clinically and genetically heterogeneous disease, is the most common cause of persistent hypoglycaemia in infancy.Case presentation: Here we describe an Egyptian male neonate first order of birth born to non-consanguineous healthy parents. At day 1 of age he presented with severe hypoglycemia and generalised seizures. At the time of hypoglycaemia (16 mg/dl) insulin and C-peptide levels were increased (insul...

Background: Anti-Mullerian hormone (AMH) concentration is now well studied for prepubertal boys (Plotton, 2009, 2012) or women in reproductive medicine, but there is few data about reference value in newborns. This dosage could be helpful for the management of disorders of sex development.Objective: The objective was to determine reference values of AMH on umbilical cord blood and to compare the values to DSD new born diagnosed during the evaluation....

Background: The contribution of intrauterine growth restriction (IUGR) and parental height (PH) to childhood short stature is difficult to determine in countries, including the UK, where birth length (BL) is not routinely measured, while accurate PH may become unavailable due to separation/divorce. A previous study (2008–2009) examined the feasibility of BL and PH measurement in the lightest 9% of babies born in a single maternity unit. Uptake was disappointing, with part...

Background: Newborn screening for congenital adrenal hyperplasia (CAH) has been shown to reduce time to diagnosis, and thus morbidity and mortality. Internationally, newborn screening for CAH continues to expand and screening techniques have improved, with the implementation of second-tier testing and use of gestational age stratification. The aim of this study was to examine the incidence and spectrum of early clinical presentations of CAH in an unscreened po...