Testosterone Treatment in a Patient With 17β-hydroxysteroid Dehydrogenase Type 3 Deficiency: an N-of-1 Study
Testosterone Treatment in a Patient With 17β-hydroxysteroid Dehydrogenase Type 3 Deficiency: an N-of-1 Study
A 38-year old women with a 46,XY disorder of sex development (DSD) based on a
 17β-hydroxysteroid dehydrogenase type 3 deficiency (17β-HSD3) was seen at the department of
 Internal Medicine-Endocrinology at the Erasmus MC, Rotterdam, the Netherlands.

 The patient presented with fatigue, concentration problems and feelings of restlessness. In
 the past, the patient had undergone a gonadectomy at 9 months of age. In a follow-up visit at
 the outpatient clinic, the patient mentioned that friends with DSD had successfully been
 treated with testosterone and the patient requested testosterone treatment for her
 complaints.

 In the literature, nothing is known about the usefulness of testosterone treatment for women
 with 17β-HSD3. For other forms of 46,XY DSD like complete androgen insensitivity syndrome
 (CAIS), limited data are available about testosterone treatment. Two studies have compared
 the effects of estrogen and testosterone replacement therapy on psychological wellbeing,
 quality of life (QoL) and sexual function in women with CAIS. The results were not
 conclusive, as one of them found a positive effect of testosterone replacement therapy on
 sexual function compared to estrogen, whereas the other study found no differences.

 In order to evaluate the effect of testosterone treatment independent of a possible placebo
 effect, the usefulness of testosterone treatment in this individual patient with 17β-HSD3
 will be investigated in an N-of-1 trial in order to improve the clinical care for this
 patient.

 The primary objective is to determine the efficacy of testosterone treatment for fatigue on
 an individual level in a patient with 17β-HSD3 as assessed with the Checklist Individual
 Strength (CIS-20).
A 38-year old women with a 46,XY disorder of sex development (DSD) based on a
 17β-hydroxysteroid dehydrogenase type 3 deficiency (17β-HSD3) was seen at the department of
 Internal Medicine-Endocrinology at the Erasmus MC, Rotterdam, the Netherlands.

 17β-HSD3 is a rare disorder characterized by a (despite the presence of a Y chromosome)
 female habitus in almost all newborns, with congenital agenesis of the uterus and ovaries.
 During puberty, patients with 17β-HSD3 often develop secondary male characteristics, such as
 deepening of the voice, male pattern body hair, and clitoromegaly.

 The patient presented with fatigue, concentration problems and feelings of restlessness. In
 the past, the patient had undergone a gonadectomy at 9 months of age. In a follow-up visit at
 the outpatient clinic, the patient mentioned that friends with DSD had successfully been
 treated with testosterone and the patient requested testosterone treatment for her
 complaints. The patient was aware of the fact that the positive effect noticed by the
 patients' friends could be (partly) explained by placebo effect.

 In the literature, nothing is known about the usefulness of testosterone treatment for women
 with 17β-HSD3. For other forms of 46,XY DSD like complete androgen insensitivity syndrome
 (CAIS), limited data are available about testosterone treatment. Two studies have compared
 the effects of estrogen and testosterone replacement therapy on psychological wellbeing,
 quality of life (QoL) and sexual function in women with CAIS. The results were not
 conclusive, as one of them found a positive effect of testosterone replacement therapy on
 sexual function compared to estrogen, whereas the other study found no differences.

 In order to evaluate the effect of testosterone treatment independent of a possible placebo
 effect, the usefulness of testosterone treatment in this individual patient with 17β-HSD3
 will be investigated in an N-of-1 trial in order to improve the clinical care for this
 patient.

 The primary objective is to determine the efficacy of testosterone treatment for fatigue on
 an individual level in a patient with 17β-HSD3 as assessed with the Checklist Individual
 Strength (CIS-20).

 Secondary objectives are to determine the effect of testosterone treatment on the QoL
 (5-level EQ-5D), testosterone, dehydroepiandorosterone (DHEA), and estradiol levels, on bone
 density, and on specific personalized goals that are important to the patient and her
 environment (Goal Attainment Scaling). To monitor the safety of testosterone treatment,
 hematocrit levels will be measured and the occurrence of adverse events will be evaluated.
Inclusion Criteria:

 - N/A

 Exclusion Criteria:

 - N/A

 The study is especially designed for a specific female patient. The patient is 38 years old
 at the moment. Since the study is especially designed for this patient, there are no formal
 inclusion and exclusion criteria.