ESPE Abstracts

17 alpha hydroxylase, 17–20 lyase deficiency is an autosomal recessive inherited congenital adrenal hyperplasia type which is due to mutation in CYP17A1 gene and characterized with adrenal and gonadal sex steroid deficiency, delayed puberty in girls, XY sex development disorder in boys and hypergonadotrophic hypogonadism in both gender.Case: 15 year old girl referred to our clinic with vomiting, fatigue and muscle spasms. In her physical examination...

The aim of this study was to evaluate the diagnosis at the first examination and last visit, etiology, prognosis, clinical properties of girls referred to the pediatric outpatient clinic with a presumptive diagnosis of early puberty for ten years and defining the effect of treatment on final height (FHt). In this single-center study, we included 1330 patients who were diagnosed during the years 2004–2014. History, anthropometric data, bone age (BA), hormones and pelvic ul...