hrp0095p1-382 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Accidental transdermal estradiol exposure leading to gynecomastia and bone age acceleration in a 7 year old boy: a case presentation

Winner Kay , Denzer Christian , Wabitsch Martin

Case presentation: A 7 year old boy was presented to us with height acceleration, symmetric breast development equivalent to Tanner stage B2 and sparse dark hair in the pubic region (PH2). Testicular volume equaled to 2ml, while external genitalia showed no clear signs of androgen effect. The patient’s biological father is a transgender woman who started a medical gender transition before the patient’s birth. She has been continuously receiving tra...

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 ...