ESPE Abstracts

Introduction: Several studies showing a high prevalence of vitamin D deficiency in pregnant women have been published in recent years. Vitamin D deficiency during pregnancy has been related to adverse events both in mother and child. Plasma 25-OH vitamin D (25(OH)D) levels in the newborn are dependent on maternal deposits and show a close correlation with maternal levels; thus, neonates of vitamin D-deficient mothers present a greater risk of hypocalcaemia, rickets and a highe...

Introduction: The proopiomelanocortin is a polypeptide of many biologically active peptides involved in many key functions which have not yet been clarified. The mutation in the gene encoding this polypeptide is associated with a clinical trials characterized by early-onset obesity, terciary adrenal insufficiency, and alteration of pigmentation. Eight cases with known genetic mutation have been published.Case report: Newborn male 27 days old from North A...

Background: There are published recommendations for neonates to avoid exposure to iodine. Iodine is trapped by the thyroid gland from the blood stream and used for the synthesis of thyroid hormones. Any excess is excreted almost entirely in the urine. Acute kidney injury, especially anuria places infants at risk of toxicity when exposed to iodine and paradoxical hypothyroidism can occur (Wolff–Chaikoff effect). Hypothyroidism of sufficient severity to seriously put the br...

The CYP19A1 gene product cP450aromatase enzyme is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues; placenta and gonads are being the leading tissues. cP450aromatase deficiency has important effects on clinical phenotype due to excessive amount of androgen accumulation and insufficient estrogen synthesis in the pre- and postnatal periods. We identified a new point mutation in the CYP19A1 gene causing aromatase deficiency in three Turkish fam...

Background: Screening for congenital hypothyroidism (CH) with the possibility of an early treatment has transformed the outlook for children with CH. Despite the unquestioned public health success of newborn screening programs, the management of CH is still controversial. Most patients with positive screening have permanent hypothyroidism but some of them may have transient hyperthyreotropinemia, so it is important to identify these patients in order to avoid lifelong unnecess...

Introduction: In India, newborn screening (NBS) for congenital hypothyroidism (CH) is not yet a national government policy. Preliminary information suggests neonatal TSH levels to be higher in expatriate Indian babies than those in European populations in developed countries.Objectives: To evaluate maternal urinary iodine and cord blood TSH in a subset of women participating in a postnatal NBS program for CH.Methods: Cord blood (CB...

Background: This case underlines the importance of a newborn screening programme combined with genotyping for confirmation and prognosis of disease severity.Objective and hypotheses: Case presentation of a girl with three CYP21A2 mutations.Method: Girl, born from first uneventful pregnancy per vias naturalis. Birthweight 3200 g, birthlenght 50 cm. Intensive jaundice, start at d3, necessitating phototherapy. Discharged from...

Background: Leprechaunism, also known as Donohue syndrome, is due to a severe congenital insulin-resistance, with prenatal and neonatal growth retardation, typical dysmorphic features, glycaemic dysregulation with hyperinsulinism and hyperandrogenism.Objective and hypotheses: These patients have a poor prognosis with death in the first year of life.Method: We report the case of a newborn (35.4 weeks) with severe fetal growth restri...

Background: Management of transient neonatal diabetes mellitus is complex. Conventional insulin therapy may be increase additional medical problems. From the case is presented, We suggested s.c. insulin pump therapy of neonatal diabetes is a safe and effective approach to management.Objective and hypotheses: To evaluate the therapeutic effect of continuous s.c. insulin infusion with insulin pump in a case with transient neonatal diabetes mellitus (TNDM)....

Background: Turner syndrome is the most common sex chromosome disorder in females and occurs in about 1/2500 newborn girls worldwide. On chromosomal analysis, the various karyotypes observed are: 45,X (50%); 45,X/46,XX (20%); 46,X, i(Xq) (15%); 46,X, r(X) or 46,X, del(X) (10%); and others (5%).Objective and hypotheses: We present the case of a 17-year-old girl referred to our service for primary amenorrhea. Clinical examination: height=163 cm (62nd perce...