ESPE Abstracts

Background: Disorders of sex development (DSD) are a group of rare conditions characterized by variable discordance between chromosomal, gonadal and phenotypic sex. An association between smallness-for-gestational age (SGA) and DSD is already recognised, but few studies have investigated this in detail.Aim of study: To evaluate the prevalence of SGA, among patients with DSD and to establish a correlation with the different types and causes of DSD.<p ...

Background: Evidence based treatment of patients with Disorders of sex development (DSD) is challenged by a dearth of outcome studies.Objective and hypotheses: To study the quality of life and the psychological outcomes of children with DSD other than congenital adrenal hyperplasia (CAH) and to identify relevant risk factors.Method: Patients with DSD other than CAH aged between 6 and 18 years. Control subjects were matched for age ...

Disorders of sex development (DSD) are a group of congenital developmental disorders in which the chromosomal, gonadal, or anatomical sex is atypical. The clinical diagnosis and management of DSD are difficult and complex because of the various aetiology and diverse manifestation. The project ‘Genetics of Human Disorders of Sexual Development’ is funded by Swiss National Science Foundation and fulfilled by the University of Geneva Medical School (Switzerland), the Me...

Background: Among individuals with DSD, some conditions are more prone to develop distress about ones assigned gender (gender dysphoria; GD) than others. For instance, the percentage of gender change and GD in female-raised persons with testosterone synthesis deficiencies is around 50%, whereas GD hardly seems to occur in complete androgen deficiency syndrome. Unfortunately in many studies information on GD and gender role changes often cannot easily be determined and clinical...

Background: The atypical appearance of the external genitalia in a neonate, defined as the external masculinization score (EMS) less than 11, should incline the clinicians to perform diagnostic procedure ideally managed by a multidisciplinary team in a tertiary centre. Among the patients with disorders of sex development (DSD), the most challenging subgroup in terms of aetiology, is the subgroup with 46, XY karyotype.Objective and hypotheses: To study th...

Background: In Turner syndrome (TS), Shox haploinsufficiency accounts largely, but not entirely, for the short stature of patients, which has been estimated at a mean loss of 20 cm with respect to target height. GH treatment has been shown to improve adult height (AH), although individual outcomes vary markedly. Little is known about the relationship between the dosage effects of the X-linked gene and responsiveness to GH.Objective: To determine whether ...

Background: Steroidogenic Factor 1 (NR5A1/SF-1) is essential for the development and function of human sex and steroid organs. Variants of SF-1 lead to a broad spectrum of phenotypes including adrenal insufficiency and differences of sex development (DSD), but data on the whole picture of phenotypes in individuals with SF-1 variants are currently lacking. We aim to investigate the phenotype of individuals with SF-1 variants in a large interna...

In the past year, basic and genetic studies revealed again novel genes and mechanisms implicated in 46,XX and 46,XY DSD. The Fgf9-/- mouse model of human synostosis syndromes revealed an unexpected male-to-female sex reversal phenotype, so far not observed in humans. Specific heterozygous human WT1 gene variants located in the 4th zinc finger were found to cause 46,XX virilization due to (ovo-)testicular DSD, and the transcription factor...

Background: Collaborative project to review the phenotypic and genotypic data from children recruited to the UK wide deciphering developmental disorders (DDD) study.Objective and hypotheses: To report the frequency and range of disorders of sex development (DSD) phenotypes observed in DDD participants who have one or more associated ‘neurodevelopmental delay’ diagnostic human phenotype ontology (HPO) term.Method: Retrospe...

Background: We have proposed a simple and comprehensive scoring system to evaluate clinical features of differences/disorders of sexual development (DSD); however, its clinical evaluation has not been performed.Aim: To evaluate the association between this newly proposed DSD scoring system (DSD-SS) and assigned gender in patients with 45,X/46,XY mosaicism.Methods: DSD-SS involves e...