ESPE Abstracts

Background: Studies on the follow-up of 46,XY partial gonadal dysgenesis (PGD) patients till adulthood are scarce and it is important to provide information to parents on the prognosis of gonadal dysgenesis.Objective and hypotheses: To analyze the long term outcomes of 46XY PGD patients in both social sexes regarding testosterone production, social sex adaption and genotype.Method: Retrospective longitudinal study conducted at Hosp...

Background: A high risk of congenital hypothyroidism (CH) has been documented in multiple pregnancies. Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days of life) become positive at re-screening, and the utility of a long-term f...

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...

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

Background: Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in aetiology. One known form associated to steroid biosynthesis impairment is the Antley-Bixler Syndrome (ABS). ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and altered steroidogenes should be recognized as possibly having P450 oxidoreductase deficiency, with mild do moderate 17 OH progesterone (17HOP) elevation ...

Introduction: Individuals with ovotesticular disorders of sexual development (OT-DSD) have both seminiferous tubules and ovarian follicles. The combination of gonads could be separated (ovary-testis), unilateral (ovotestis-ovary or ovotestis-testis), or bilateral (ovotestis-ovotestis). The last one is the rarest variant (24.5%). In 60% of cases, the karyotype is 46, XX.Case Report: 15-year-old, monochorionic-monoamniotic...

Liraglutide 3.0 mg has been shown to improve body mass index (BMI) and weight in obese adolescents. And it has done so in a randomized, double-blind, phase 3 clinical trial that has investigated the effect of liraglutide 3mg. compared with placebo for weight control in 251 obese minors, and as a complement to a healthy lifestyle. Adverse events associated with the use of liraglutide 3.0 in pediatric patients are not very different from those observed in adults. There may be ca...

Background: To evaluate the efficacy of thyroidectomy, it is necessary to know its complications; however, there is a great discrepancy in the literature regarding its incidence. A greater surgical aggressiveness achieves better control of the disease, but may be accompanied by more complications. Hypocalcemia is the most frequent potential complication after thyroidectomy, but its persistence can lead to serious systemic effects. The objective of this study i...

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with an autosomal dominant mode of inheritance and high penetrance. To this date, it is known 13 subtypes of MODY with different genetic etiologies. It is characterized by high incidence in the family, an early onset and primary defect in pancreatic β-cell function.Objective and hypotheses: The primary objective of this study is to identify patients with MODY an...

Background: Chronic diseases are the main causes of bone mass reduction in childhood and adolescence. Different aspects related to the process of bone acquisition and maintenance may be affected. Studies had point out the presence of bone mass reduction in children and adolescents with HIV infection with association to antiretroviral use, chronological age (CA), weight and serum CD4 T-cell counts. However, others do not.Objective: To evaluate bone minera...