ESPE Abstracts

Background: To aid assessment of parent-reported quality of life outcomes (PRO) in routine clinical setting in young children with a condition affecting sex development, a short questionnaire (PRO-CSD) that includes a parent-proxy report (PPR) and a parent-self-report measure (PSR) has been recently developed and requires further validation. Methods: Parents of 98 boys with a median age of 2.9 yrs (range, 0.2,6.5) and me...

Background: Polycystic ovary syndrome (PCOS) is the most common hyperandrogenic disorder in pubertal girls affecting between 3 and 11 % of them. Menstrual irregularities and hyperandrogenism are the main characteristics of the syndrome. PCOS is associated with obesity, cardiovascular complications, impaired fertility and increased cancer risk in adulthood. Some of these complications are potentially preventable with timely diagnosis, life-style change and phar...

Background and Aims: Infants born prematurely have increased risk of multi-organ dysfunction and death throughout their lives. Males are particularly higher risk and susceptible to the adverse effects of infection related inflammation with poorer clinical outcomes. Immune function, hormone exposure and genetic factors play contributory roles. Physiological concentrations of female hormones hypothesised to have a role in immune development, could affect the exp...

Introduction: The suspected diagnosis of an intersex condition in a child often causes great uncertainties in families. Since these are rare diagnoses, families often do not receive timely and comprehensive information. The Empower-DSD information management defines a structured multidisciplinary care and information exchange for children and their caretakers in the first 8-12 weeks after a suspected DSD diagnosis.Methods:</stron...

Background: Face processing is considered the most highly developed visual perception ability, with research indicating differences between genders. Gender incongruence (GI) refers to person’s experience of an incompatibility between gender identity and birth-assigned sex. Differences of sex development (DSD) encompass rare congenital conditions, in which chromosomal, gonadal or phenotypic development is atypical. The study aimed to investigate face proc...

Aim: Homozygous mutations in the HAX1 gene have been described in autosomal recessive severe congenital neutropenia (CN). In this rare disease, ovarian failure has been reported only in 9 female patients in the literature. There is insufficient data on childhood patients with HAX1 deficiency and the age of onset of ovarian failure is unknown. The aim of this cross-sectional study was to evaluate the gonadal functions and pubertal development in paedia...