ESPE Abstracts

Introduction: In cases of congenital and acquired hypothyroidism, there can be a development of resistance to Levothyroxine (LT4) over time. The cause of this clinical picture is unknown and often improves later in life. However, in some cases or receptor expression disorders, it may be necessary to add T3 to the treatment to overcome this condition.Aim: This study aims to determine the characteristics of cases where per...

Purpose: Peripheral precocious puberty is a variant of puberty in which gender characters emerge independent of the hypothalamo-pituitary axis. It may occur with ovarian-testicular-adrenal pathologies, hCG-secreting tumors, Mc. Cune Albright Syndrome, or an endocrine disruptor that may be a source of exogenous estrogen. In premature menarche, which is the other variant of early puberty, prepubertal uterine bleeding is observed independently of other findings o...

Introduction: Ellis-Van Creveld syndrome is a syndrome progressing with postaxial polydactyly, short extremities, short height, dystrophic and/or hypoplastic nails, dental and oral anomalies, congenital heart disease and radiological abnormalities. Variations in several genes like EVC, EVC2, DYNC2H1, DYNC2LI1, GLI, SMO, PRKACA and PRKACB are considered responsible for the etiology of the syndrome.Case: An 11 year and 5 m...