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Transition in the field of Disorders of Sex Development (DSD): A case of late diagnosed 5α-reductase deficiency illustrates complex requirements
There is a lack of standardization of medical consult and transition within the field of DSD. Adult patients are in need to find specialized care. Due to new recommendations from ethical stakeholders the decision of irreversible interventions shift to adult medicine.
We report on a case of 5α-reductase deficiency (5-ARD) to illustrate the development of a girl facing virilisation to a young male adult.
Our interdisciplinary team (IDT) accompanied the decision-making process.
What are the requirements for the process of transition to ensure support for a satisfying long-term outcome?
We report on a Kurdish 46, XY girl not being diagnosed with 5-ARD until the age of 13 1/2 years when virilisation had already emerged. We sketch the timeline and the developmental stages of the patient pointing out the interdisciplinary medical and psychosocial work.
All involved parties shared facts and treatment options. Progressive virilisation was stopped using GnRH-analogs to gain time. At the request of the 14 year old patient female pubertal development was inducted. Antisocial behaviour affected compliance. Virilisation proceeded when treatment was finished by the patient. Peer counselling by other affected family members encouraged the patient to adopt the male gender role. Now the patient poses questions about fertility, genital reconstruction and sexual life.
The case illustrates that the management of patients with DSD requires care through specialised interdisciplinary centres. Ethical stakeholders demand to postpone irreversible procedures until the patient has the ability to consent. At the age of 13 our patient was sure to follow the female line. The illustrated medical and social support revealed that gender identity turned out to be different. Now the patient needs access to adult medicine. The IDT has to recruit experts of fertility, urologists and adult psychologists to provide a patient-centered support.