ESPE Abstracts

Background: Despite advances in genetic diagnosis and surgical technique, and guidance from the Consensus Statement on Intersex Disorders, aspects of clinical management in disorders/differences of sex development (DSD) remain unsettled. Actively debated decision points include gender of rearing in specific syndromes, genital surgery prior to the patient developing the capacity to provide assent, and uncertainty over how and when to best educate young patients about diagnostic...

Background: 46,XY patients with 5α-reductase deficiency (5-ARD), reared from birth as girls, are reported to self-reassign as boys subsequent to a masculinizing puberty; whether this holds true in cases of early orchidectomy is less well documented.Objective and hypotheses: Prepubertal orchidectomy reduces the likelihood of gender self-reassignment.Method: Presentation, management and outcome of two siblings with 5-ARD with na...

Background: Reports suggest that youths with short stature (SS) exhibit academic under-achievement relative to cognitive aptitude and GH treatment diminishes the difference. However, interpretation of this achievement-aptitude discrepancy is confounded by the use of achievement and intelligence tests normed in different samples.Objective and hypotheses: To assess whether reports of academic underachievement in SS samples are partially attributable to cho...

Background: Disorders/differences of sex development (DSD) differ from other rare conditions which are often accompanied by significant morbidity and mortality. With limited exceptions, DSD are not life-threatening and do not predict a given level of physical health or health-related quality of life across the lifespan. The birth of a child with DSD is anxiety-provoking. Stressors include weathering drawn-out diagnostic testing, difficulty absorbing complex medical information...

Background: Disorders of sex development (DSD) may be associated with adverse psychosocial and psychosexual outcomes in adults. However, there is a paucity of information on health-related quality of life outcomes in parents and young children with DSD.Objective: To evaluate the use of parent-reported outcome (PRO) questionnaires that can be routinely used in the outpatient setting to assess the impact of DSD on parents ...

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...

Aims: Historical I-CAH data shows considerable variation in the management of 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) in infancy despite existence of several guidelines. Using the I-CAH registry we analysed contemporary early infancy natural history data, creating benchmarks as part of continuous quality improvement.Methods: Of 136 infants born in 2018-2023 and treated for 21-OHD CAH withi...