hrp0095p2-276 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

The challenge of gender identity due to 5α-reductase deficiency- a case report

Herrmann Gloria , Bauer Agnes , Winner Kay , Kapapa Melanie , Stoll Elvira , Serra Alexandre , Wabitsch Martin

The 5α-reductase deficiency type 2 is a rare autosomal recessive 46,XY disorder of sexual development (DSD), presenting with a wide clinical spectrum ranging from a male phenotype with hypospadias to a female phenotype with wolffian structures. Here we report about the clinical, hormonal and molecular characterization of two siblings with a mutation in the SRD5A2 gene, as well as the challenge of gender identity and the importance of psychosocial care. The older sibling ...

hrp0097p1-368 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Results of Empower-DSD: a patient education programme for children, adolescents, and young adults with differences of sex development (DSD) and their parents

Neumann Uta , Wiegmann Sabine , Ernst Martina , Ihme Loretta , Wechsung Katja , Kalender Ute , Stöckigt Barbara , Richter-Unruh Annette , Holland Cindy , Hiort Olaf , Jürgensen Martina , Marshall Louise , Döhnert Ulla , Schneidewind Julia , Wagner Isabel , Rohayem Julia , Liesenkötter Klaus-Peter , Wabitsch Martin , Fuchs Malaika , Herrmann Gloria , Bauer Agnes , Haase Martina , Grau Anna , Klose Torben , Roll Stephanie , Schilling Ralph , Keil Thomas

Background: Within the government-funded project Empower-DSD, modular training programmes for children and young adults aged 6-24 years with the diagnoses CAH, Turner-syndrome, Klinefelter-syndrome or XX-/XY-DSD (including MRKH) and their relatives were developed to improve diagnosis-specific knowledge, skills and empowerment. Overall, 105 trainings were offered between August 2020 and September 2022 in 5 centres with DSD expertise in Germany.<p class="abs...