ESPE Abstracts

Background: The incidence of paediatric papillary thyroid cancer (PTC) is increasing.Objective and hypotheses: To describe the clinical and histopathologic features at diagnosis, and follow-up of paediatric patients with PTC at Children’s Hospital of Mexico in a 10 years period.Method: Comparative longitudinal study. We included 22 paediatric patients with histopathologic diagnosis of PTC between 2004–2014, divided into r...

Background: Pycnodysostosis is a very rare autosomal recessive skeletal dysplasia caused by cathepsin K deficiency. It is characterized by extreme short stature resulting in an adult height in males typically <150 cm and in females <134 cm. Bone-fragility and frequent fractures are present. There are few case-reports on the effects of GH treatment.Objective: To evaluate the effect and safety of GH in 6 patients wit...

Background: DLK1 (PREF1) is a key inhibitor of adipogenesis and adipocyte differentiation. Adipose tissue expansion depends on adequate adipocyte differentiation. However, whether lower DLK1 expression facilitates adipose tissue expansion following fetal growth restriction is so far unknown.Objective and hypotheses: To study the expression of DLK1 in the adipose tissue of prenatally growth-restricted rats and its relat...

Background: NR5A1 mutations in 46,XY patients lead to various degrees of disorders of sex development (DSD). Familial cases have been described where the mother (heterozygous for the mutation) presented primary ovarian failure. Little is known about testicular function at puberty but most patients have biological markers of gonadal dysgenesis, raising fears of infertility.Objective and hypotheses: To describe a familial form of DSD due to NR5A1 mutation ...

Background: Sertoli-Leydig Cell Tumors (SLCT) account only for 1% of all ovarian neoplasia, occur more commonly in the second or third decade of life and seldom secrete tumor markers. The experience in adolescence is limited.Objective and hypothesis: To report the hormonal and biological profile of a SCLT in a young adolescent. Ovarian tumor markers as well as FDG-PET scanning might be helpful in diagnosing ovarian malignancy in case of normal ultrasound...

Background: NEUROD1 encoding neurogenic differentiation 1 is known to play an important role in the development of the pancreas and central nervous system. Heterozygous mutations have been rarely identified as a cause of maturity-onset diabetes of the young (MODY6). Biallelic NEUROD1 mutations have been reported to cause neonatal diabetes mellitus (NDM) as well. However, only 3 cases have been reported worldwide so far....

Objectives: To describe clinical, hormonal and genetic findings of an under-virilized infant male, 13 month old, of afghani origin, presented at the emergency department with salt-wasting adrenal crisis.Case report: The patient, a 13 month old male infant, presented at the emergency department with complaints of vomiting and fever. Physical examination was significant for severe dehydration along with perineal hypospadia...

Introduction: Although vitamin D deficit is the most common cause of rickets there are many rare genetically transmitted forms as hypophosphatemic rickets, a family of hereditary diseases characterized by low phosphorous plasma levels and resistance to 25OH-vitamin D replacement.Case report: This is the case of a 3.6 year-old Italian child sent from the General Pediatrician, for rickets suspicion. Silent personal history...

Obese children are at risk for increased DHEAS production, which is assumed to arise from hyperinsulinemia, hyperleptinemia, increased IGF-1 production or chronic low grade inflammation. Exaggerated adrenarche is suspected to be a forerunner of polycystic ovary syndrome in girls, but its consequences in obese boys are less well studied. In this study we evaluated the presence of exaggerated adrenarche in a cohort of obese boys and girls and investigated whether obese children ...

Introduction: Multiple endocrine neoplasia type 1 is an autosomal illness dominant caused by mutations in the gene menina (MEN1) with high penetrance, characterized by neoplasia parathyroid glands, anterior pituitary, endocrine pancreas and duodenum. Although it has been associated with other types of cancer like breast cancer.Methods and materials: Clinical analysis, mutational and sequencing report Sanger from gene MEN...