ESPE Abstracts

Background: POR deficiency is a rare form of congenital adrenal hyperplasia, transmitted in an autosomal recessive trait, that is characterized by ambiguous genitalia, impaired steroidogenesis and skeletal malformations similar to those of Antley-Bixler syndrome. It is caused by mutations in the P450 oxidoreductase gene (POR), an electron donor for all microsomal P450 enzymes including the three steroidogenic enzymes P450c 17 (17 alfa-hidroxylase /17,20 lyase)...

Pulmonary carcinoid tumors represent well-differentiated pulmonary neuroendocrine tumors, which include typical and atypical carcinoids. This type of lung tumors is rare, but represents the most common primary malignant lung tumor in children and adolescents, especially the typical carcinoids. They can be asymptomatic at the time of diagnosis or can present with nonspecific findings like recurrent pneumonia, cough, and hemoptysis. We report the case of a 15-year-old girl reffe...

Introduction: Thyroid carcinoma in pediatric and young adult population presents contradictory features: it has higher rates of multifocal disease, local and distant metastasis and reccurence compared to the adult population, yet the 5-year survival rate is 98%. The rising incidence seen recently cannot be entirely explained by overdiagnosis, as increasing rates of advanced-stage disease are also observed. The rise consists primarily of papillary thyroid carci...

Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. PMDS is caused by mutations in the genes coding anti-Müllerian hormone (AMH, PMDS type 1) or the AMH receptor (AMHR2 gene, PMDS type 2) and it usually presents as undescended testes (cryptorchidism) or inguinal hernia...

Introduction: Leydig cell tumors are rare (3% of testicular neoplasms). 80% of cases occurs in adult population, although a quarter is described in prepubertal patients older than four years. The clinic differs according to the patient's age. Activating mutations, acquired and limited to the tumor tissue, are described in exon 11 of the LH receptor gene. And in mixed Sertoli-Leydig tumors activating mutations of the Gs-alpha subunit of the stimulat...

Puberty is a crucial biological process normally occurring at a specific time during the lifespan, during which sexual and somatic maturation are completed, and reproductive capacity is reached. Pubertal timing is not only determined by genetics, but also by endogenous and environmental cues, including nutritional and metabolic signals. During the last decade, we have learned much regarding the essential roles of kisspeptins and the neuropeptide pathways that converge on these...

Background: Several studies have suggested that vitamin D supplementation in early childhood is successful in decreasing the risk of type 1 diabetes (T1D) through a complex immunomodulatory role. However, Intervening in disease once clinical symptoms have appeared and autoreactive immune responses are active might be more challenging. Controlled trials with vitamin D supplementation in recent-onset T1D have shown mixed results.Objective and hypotheses: T...

Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, a typical phenotype and feeding difficulties. It is related to 11p15 ICR1 hypomethylation in up to 50% of the cases. Some patients may exhibit signs of early puberty or premature adrenarche, including premature pubarche and/or an exaggerated adrenarche (high dehidroepyandrosterone sulfate (DHEAS) levels for chronological age). Despite early feeding difficulties, some ch...

Background: Hashimoto’s thyroiditis is a common autoimmune disease in pubertal and adolescent girls. In the past years the incidence of this autoimmune disease of the thyroid gland has increased.Objective and hypotheses: We present a 12.5 year old girl who had her first visit at our Pediatric Endocrinology Department at the age of 10 years due to short stature and clinical signs of hypothyroidism. Her height was – 3SD SDS and her BMI was 12.7. ...

Introduction: In 2009/2010 Hospital Virgen del Rocío, Seville, Spain changed the treatment of patients with GH deficiency (GHD) from various original recombinant human GH (rhGH) to a biosimilar rhGh (Omnitrope®, Sandoz).Objective: To evaluate the consequences on growth parameters of switching treatment, from original rhGHs to Omnitrope® in children with GHD, in a window period of 36 months.Metho...