Background: 46, XY-disorders of sex development (DSD) are due to different causes like androgen insensitivity, gonadal dysgenesis, defects in testosterone metabolism and others. Exact diagnosis is mandatory prior to medical advice, therapeutic steps, or even surgical procedures. To show the difficulties of gender assignment before and also after a correct diagnosis we describe a patient who waited 35 years for the complete diagnosis, but was advised, treated and operated before.
Case presentation: A 46, XY-child was born with ambiguous genitalia with clitoris hypertrophy, short vagina and palpable gonads. Under the impression of partial androgen insensitivity or gonadal dysgenesis gonadectomy and shortening of the phallus was performed at the age of 5 and 6 years respectively. Estrogen substitution therapy was initiated at the age of 13 years resulting in good breast development giving her together with her long hair a female appearance. But she felt a deficit of libido and clitoral arousal. According to her chromosomal gender of 46, XY she started at the age of 34 years with additional testosterone gel by self-medication and got the impression of feeling stronger and more energetic. At the age of 35 years it was possible to establish his/her diagnosis of a homozygote 17ß-HSD type 3 splice site mutation. This is the cause of the congenital lack of virilization mimicking partial androgen insensitivity syndrome. After gonadectomy and phallus reduction there was no tissue for spontaneous male puberty. Currently the patient is unable to decide for a male or female social sex but prefers to live between the two standard genders.
Conclusion: In retrospect it would have been better to wait for the correct diagnosis, since in 17ß-HSD-patients a considerable number of individuals develop significant male testosterone levels and demonstrate spontaneous phallic enlargement during puberty.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology