ESPE Abstracts

Introduction: The Sonic Hedgehog (SHH) gene is involved in the development of midline structures. Pathogenic variantd in this gene have been associated to holoprosencenphaly 3; Microphthalmia with coloboma 5; Schizencephaly; and Single median maxillary central incisor syndrome (SMMCIS). All of them are inherited in an autosomal dominant pattern and exhibit incomplete penetrance as well as variable expressivity.Case Report:</stron...

Background: Self-limited delayed puberty (DP) is an extreme variant of normal pubertal timing and it often clusters in families. Although it is highly heritable and is the most common cause of delayed puberty, little is known about the genetic control. GnRH neuronal biology has been implicated as a key element in the pathogenesis of DP. By focusing on genes involved in GnRH neuron development, migration and function we may understand more about the genetic bas...

Background: Aberrations in the timing of puberty may result in significant adverse health outcomes, including cancers, cardiovascular and neurological pathologies. Self-limited delayed puberty (DP) (i.e. constitutional delay of puberty) runs in families with either autosomal dominant or complex inheritance patterns in >70% of families, indicating a strong genetic basis of the trait. However, only a few genes have been identified underlying DP so far....

Background: Vitamin D is a pleiotropic hormone the deficiency of which is related with extraskeletal manifestations such as insulin resistance and cardiovascular risk disease.Objective and hypotheses: To investigate the levels of VitaminD in a sample of children with obesity and to evaluate the relationship between carbohydrate metabolism and metabolic syndrome (MS).Method: In this prospective cross-sectional study, 189 children ag...

Background: 2015 ATA Guidelines for management of medullary thyroid cancer (MTC) include C634 RET codon mutation in ‘High risk’ group, recomendating prophylactic thryroidectomy before 5 years old based on serum basal calcitonin levels (SBCt).Objective and hypotheses: We present 14 pediatric patients with C634 RET codon mutation, who underwent prophylactic thyroidectomy in our center, their clinical and analytical features and anatomopathologica...

Introduction: Small-for-gestionational-age newborns (SGA-NB) may present subsequent comorbidities affecting their metabolism, growth, and development. Analysis of changes in serum proteome profile expression in SGA-NB may provide physiopathological information and help to identify postnatal biomarkers.Aim: To compare serum proteome profiles in SGA vs AGA newborns, stratified by gestational age.Study population and method: The study...

Background: The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. This can be ameliorated by administering dexamethasone to the mother.Case: This is a family whose index case is a first son diagnosed by Madrid Newborn Screening Program of CAH with salt-wasting form due to 21-hydroxylase deficiency. Mutation analysis revealed: ‘hybrid deletion’ ...

Background: Small-for-gestational-age (SGA) newborn infants (NB) may present long-term comorbidities influencing their metabolism, growth and/or development. Although their serum proteome is unknown, altered expression of the proteome profile may provide information on their physiopathology and lead to the discovery of biomarkers for postnatal complications.Aim: To detect changes in the serum proteome in SGA-NB vs adequate-for-gestational-age (AGA) newbo...

Introduction: Continuous Glucose Monitoring (CGM) devices have introduced new metrics to assess metabolic situation of patients with type 1 diabetes mellitus (T1DM). Among them, the glucose management indicator (GMI) provides a proxy to HbA1c, however, these measures do not always match.Purposes: To evaluate the concordance between GMI and HbA1c, and determinate in which scenarios GMI could replace HbA1c.Subjects a...

Introduction: 46,XY gonadal dysgenesis (GD) represents a heterogeneous group of disorders/differences of sex development (DSD) characterized by abnormal gonadal development leading to a wide phenotypic spectrum. Variable degrees of external genitalia undervirilization are observed, ranging from micropenis to female-like genitalia and partially or fully-developed Mullerian derivatives.Case Report: A 6 years-old boy follow...