ESPE Abstracts

Background and aims: The interpretation of serum 17α-hydroxyprogesterone (17OHP) results is difficult as age-related pediatric reference intervals are scant. The aim of this study is to determine the reference intervals for serum 17OHP according to sex and age groups in newborns. We also aimed to establish reference intervals for right and left adrenal gland sizes, and to evaluate the relation with adrenal size and serum 17OHP concentrations in newborns.<p class="abst...

Due to recent scientific progress in assisted reproductive techniques (ART), infertile couples can now become fertile. Thus, a number of infants in our country are the results of these costly interventions. This study has been undertaken to evaluate the physical growth of ART infants using standard growth charts from birth until 18 months of age.Methods: We measured the anthropometric data of 100 infants newborns conceived through ART intracytoplasmic sp...

We report the case of a female newborn, first child of healthy, non-consanguineous parents, born at 42+0 weeks of gestation, who was admitted 21 h after birth with severe hypoglycemia, hypothermia, decreased muscle tone, inspiratory stridor and edema. The course included poor feeding and failure to thrive, hyperbilirubinemia and cholestasis. Infectious or metabolic diseases were ruled out by clinical and laboratory investigations. Hormonal evaluation confirmed the diagnosis of...

17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is expressed mostly in the testes and converts the inactive Δ4-androstenedione (A) to testosterone (T). 17β-HSD3 deficiency is a rare autosomal recessive disorder and the most common testosterone biosynthesis defect leading to 46,XY Disorders of Sex Development (DSD). To date, more than 40 mutations of HSD17B3 have been reported. 46,XY patients with 17β-HSD3 deficiency would present with wide variable ...

Introduction: Ovarian stimulation syndrome (OSS) in an infrequent disorder, in preterm infants under 30 weeks gestation. The are very few cases described in the literature. The immaturity, lack of gonadal axis feed-back or mutations in the FSH receptor genes, may explain its physiopathology. We present the case of a 26-week neonate with this syndrome.Case summary: 26-week newborn with extremely low weight (460g) born by emergency cesarean section due to ...

Background: Thyroid imaging is recommended to determine the aetiology of congenital hypothyroidism (CHT). Currently scintigraphy is the gold standard imaging modality. Negative scinitigraphy despite the presence of thyroid tissue may lead to a spurious diagnosis of athyreosis. Few centres routinely perform both scinitgraphy and ultrasound so that the incidence of misclassified athyreosis is unknown.Aim: To describe the incidence of sonographically normal...

The new care paradigm for DSD promoted by the Chicago Consensus of 2005 raised many psychological challenges, the most important being the way decisions regarding the sex of rearing and diagnosis communication are made. The traditional care paradigm, sustained by a binary sex categorization, suggested that for newborns, the decision about the sex of rearing should be made as soon as possible and no later than 18 months of life and that little should be said to the involved per...

Background: Turner syndrome (TS) occurs in 1/2000 newborn girls. Primary ovarian insufficiency (POI), due to an increased follicular apoptosis, is a classic feature of TS. It occurs in more than 95% of TS patients. Therefore, oocyte donation is often the only option for women desiring a pregnancy.Objective and hypotheses: Few studies have reported the outcome of spontaneous pregnancies (SP) in TS patients.Method: We evaluated the p...

Background: DLK1 or PREF1 is an imprinted gene highly expressed from the paternal allele in embryonic tissues and placenta. It has been recently implicated in adipose tissue expansion and diabetes development. The human rs1802710 polymorphism (SNP) in DLK1 gene has been associated with early-onset extreme obesity but its role determining growth is unknown.Objective and hypotheses: To study the preferential paternal transmission...

Background: The phenotypic effects of single nucleotide polymorphisms (SNPs) may depend on their parental origin. PLAGL1 is an imprinted gene expressed from the paternal allele in placenta that is associated with fetal growth, transient neonatal diabetes mellitus and postnatal growth disorders. The mechanisms whereby PLAG1 regulates fetal growth are, however, unknown.Objective and hypotheses: To study if the preferential paternal transm...