ESPE Abstracts

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 (Pat.1) presented at the age of 1 year with labia synechia and mild clitoris enlargement. The younger sibling presented postnatal with gonads inguinal. The basal levels for gonadotropins and sex hormones were appropriate for age. A stimulation of the gonads by human chorionic gonadotropin showed a rise in plasma testosterone (Pat.1: 0.06 µg/l to 5.89 µg/l), corresponding to a normal Leydig-cell function, and a slight increase in DHT, resulting in a high testosterone/DHT ration (Pat.1: T/DHT-ratio 29.5). Karyotyping of DNAs extracted from peripheral blood lymphocytes showed 46,XY. A homozygous mutation in exon 1 of SRD5A2 (c.176C>G) was detected in both individuals. The non-consanguine parents were heterozygous genetic carriers. In both siblings, no uterus was visible on ultrasound and in laparoscopy. Relocation and fixation of the gonads into the labioscrotal region was performed to allow sonographic monitoring, which is so far without pathological findings. Psychosocial care occurred initially low-frequently and was intensified over time. The parents chose female sex of rearing for both siblings, though virilization is expected during puberty due to testosterone production of the gonads. By blocking puberty, GnRH-analogues open a time frame for further reflection about gender identity. We recently started Triptorelin 3.75 mg i.m./28 days in pat.1 at the age of 11 years due to slightly rising gonadotropins and testosterone. Further induction of puberty could be oestrogen-dominant or biologically androgen-dominant (+DHT transdermal). Deciding about partly irreversible and life-changing therapy strategies is a challenge as for a prepubertal child as for parents. Our experience points towards the importance of patient participation, peer counselling and exchange with self-help groups. Essentially integrated continuous psychosocial care should recognize the following aspects: diagnosis coping, body acceptance, dealing with identity, psychosocial health status, sexuality and fertility. To summarize, personalized care including the implementation of psychosocial support is essential for people with disorders of sex development, such as 5α-reductase deficiency.