hrp0086p2-p873 | Syndromes: Mechanisms and Management P2 | ESPE2016

A XO/XX Girl with Lack of Morphological UTS-Features, Short Stature and Precocious Puberty

Vogel Birgit , Šimic-Schleicher Gunter

Background: Ullrich-Turner-Syndrome is usually characterized by typical morphological features. Short status, delayed bone age in childhood and gonadal dysgenesis with delayed or lacking pubertal development, amenorrhoea and infertility. Other symptoms like thyroid dysfunction, heart defects, diabetes, behavioural or learning problems vary. The genotype/phenotype correlation may be poor. Especially in UTS mosaicism, spontaneous puberty may occur.Objectiv...