ESPE Abstracts

Background: Monogenic diabetes is a type of diabetes resulting from mutations of a single gene that may be spontaneous de novo or autosomal dominant or recessive. Reported incidence is 1-4% and confirmed by molecular genetic testing. Transient neonatal diabetes is usually diagnosed within the first week of life and resolves around 12 weeks. Permanent neonatal diabetes should be considered in all children presenting with diabetes in first month of age, and do n...

Objective: This study aims to evaluate the effectiveness and efficiency of weight-based threshold levels for 17-hydroxyprogesterone (17-OHP) in screening newborns for 21 hydroxylases deficiency-congenital adrenal hyperplasia (CAH)Design: In April 2021 CAH screening was incorporated into the ongoing newborn screening program at aga khan university Hospital Karachi Pakistan,17OHp was assayed through Spectro fluorometry of ...

Background: In contrast to monogenic diseases, contiguous gene syndrome (CGS) describes a clinical phenotype caused by a deletion or duplication of several neighbouring genes. Angelman or Williams-Beuren syndrome are examples demonstrating that deletion of several adjacent genes causes a complex clinical syndrome. However, CGS are very rare events in pediatric endocrinology, and require knowledge of clinical associations pointing towards specific potentially affected genes in ...

A female second born of unrelated parents, at fourth pregnancy, born by vaginal delivery at 39 weeks of gestational age, weight 3145 g (-0.45 SDS), length 50 cm (0.12 SDS), head circumference 33 cm (-0.82 SDS), presented with DSD. The mother affected by hypothyroidism and autoimmune hepatitis, during the whole pregnancy was treated with levothyroxine and prednisone at the dose of 5 mg/day. At birth mild ambiguous genitalia (Prader stages I-II) were noticed and the baby was adm...

Background: It is reported that children with congenital hypothyroidism (CH) are at increased risk of developing childhood obesity. Moreover, it is known that the timing of adiposity rebound (AR) in childhood is strongly linked with future obesity. Aims of our study were to explore the timing of AR and to identify factors affecting AR in a cohort of children with CH diagnosed by newborn screening and treated with levothyroxine. Design: one-center, retrospectiv...

Introduction: The main reason for Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is to prevent adrenal insufficiency that can lead to life-threatening conditions. On the other hand, screening programmes are not always sensitive and effective enough to detect the disease. We aimed to evaluate the specificity, sensitivity and efficiency of the national NBS for CAH in Lithuania.Methods: retrospective study...

Introduction: Multinodular goiter is an extremely rare condition in neonates and can account for tracheal airway compression.Case report: A newborn girl presented immediately after birth with an inspiratory and expiratory stridor and a visible swelling in the neck. She was born term after an uneventful pregnancy with a birth weight of 3.26 kg. The mother had no known thyroid disease and had not used antithyroid or goitrogenic medication. She had a normal...

Objective: The treatment of children with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a challenge since both undertreatment and overtreatment with glucocorticoids can affect growth. Numerous reports in the literature have shown that the linear growth of individuals with CAH is affected and adult height is compromised. However, most of these data were obtained in the era before CAH newborn screening....

Background: Newborn screening for congenital adrenal hyperplasia (CAH) is based on the determination of 17-hydroxyprogesterone (17OHP) on blood and its need is confirmed by the most recent guidelines on the subject. In Italy this screening is not mandatory, and its application is on a regional basis. Among its disadvantages, it is well known the high frequency of false-positives, in particular in premature babies and those born small for gestational age. Howev...

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...